Publications

Publications published since 2005 from OUS - Department of Medical Genetics

1161 publications found (only first 1000 shown)

Publications 2018

  1. Adams C, Richmond RC, Santos Ferreira DL, Spiller W, Tan VY, Zheng J, Wurtz P, Donovan JL, Hamdy FC, Neal DE, Lane JA, Davey Smith G, Relton CL, Eeles RA, Henderson BE, Haiman CA, Kote-Jarai Z, Schumacher FR, Amin Al Olama A, Benlloch S, Muir K, Berndt SI, Conti DV, Wiklund F, Chanock SJ et al. (2018)
    Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study
    Cancer Epidemiol Biomarkers Prev (in press)
    DOI 10.1158/1055-9965.EPI-18-0079, PubMed 30352818
  2. Akkouh IA, Ueland T, Andreassen OA, Brattbakk HR, Steen VM, Hughes T, Djurovic S (2018)
    Expression of TCN1 in Blood is Negatively Associated with Verbal Declarative Memory Performance
    Sci Rep, 8 (1), 12654
    DOI 10.1038/s41598-018-30898-5, PubMed 30139959
  3. Bakke KA, Howlin P, Retterstøl L, Kanavin ØJ, Heiberg A, Nærland T (2018)
    Effect of epilepsy on autism symptoms in Angelman syndrome
    Mol Autism, 9, 2
    DOI 10.1186/s13229-017-0185-1, PubMed 29340132
  4. Bakke MJ, Agusti C, Bruusgaard JC, Sundaram AYM, Horsberg TE (2018)
    Deltamethrin resistance in the salmon louse, Lepeophtheirus salmonis (Krøyer): Maternal inheritance and reduced apoptosis
    Sci Rep, 8 (1), 8450
    DOI 10.1038/s41598-018-26420-6, PubMed 29855496
  5. Berg AO, Jørgensen KN, Nerhus M, Athanasiu L, Popejoy AB, Bettella F, Norbom LCB, Gurholt TP, Dahl SR, Andreassen OA, Djurovic S, Agartz I, Melle I (2018)
    Vitamin D levels, brain volume, and genetic architecture in patients with psychosis
    PLoS One, 13 (8), e0200250
    DOI 10.1371/journal.pone.0200250, PubMed 30142216
  6. Bjune K, Sundvold H, Leren TP, Naderi S (2018)
    MK-2206, an allosteric inhibitor of AKT, stimulates LDLR expression and LDL uptake: A potential hypocholesterolemic agent
    Atherosclerosis, 276, 28-38
    DOI 10.1016/j.atherosclerosis.2018.07.009, PubMed 30025252
  7. Bjune K, Wierød L, Naderi S (2018)
    Triciribine increases LDLR expression and LDL uptake through stabilization of LDLR mRNA
    Sci Rep, 8 (1), 16174
    DOI 10.1038/s41598-018-34237-6, PubMed 30385871
  8. Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2018)
    Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study
    BMC Nephrol, 19 (1), 39
    DOI 10.1186/s12882-018-0835-3, PubMed 29439672
  9. Dadaev T, Saunders EJ, Newcombe PJ, Anokian E, Leongamornlert DA, Brook MN, Cieza-Borrella C, Mijuskovic M, Wakerell S, Olama AAA, Schumacher FR, Berndt SI, Benlloch S, Ahmed M, Goh C, Sheng X, Zhang Z, Muir K, Govindasami K, Lophatananon A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman P et al. (2018)
    Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
    Nat Commun, 9 (1), 2256
    DOI 10.1038/s41467-018-04109-8, PubMed 29892050
  10. Dahl JA, Gilfillan GD (2018)
    How low can you go? Pushing the limits of low-input ChIP-seq
    Brief Funct Genomics, 17 (2), 89-95
    DOI 10.1093/bfgp/elx037, PubMed 29087438
  11. Davies G, Lam M, Harris SE, Trampush JW, Luciano M, Hill WD, Hagenaars SP, Ritchie SJ, Marioni RE, Fawns-Ritchie C, Liewald DCM, Okely JA, Ahola-Olli AV, Barnes CLK, Bertram L, Bis JC, Burdick KE, Christoforou A, DeRosse P, Djurovic S, Espeseth T, Giakoumaki S, Giddaluru S, Gustavson DE, Hayward C et al. (2018)
    Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
    Nat Commun, 9 (1), 2098
    DOI 10.1038/s41467-018-04362-x, PubMed 29844566
  12. Dejgaard LA, Haland TF, Lie OH, Ribe M, Bjune T, Leren IS, Berge KE, Edvardsen T, Haugaa KH (2018)
    Vigorous exercise in patients with hypertrophic cardiomyopathy
    Int J Cardiol, 250, 157-163
    DOI 10.1016/j.ijcard.2017.07.015, PubMed 29169752
  13. Dieset I, Mørch RH, Hope S, Hoseth EZ, Reponen EJ, Gran JM, Aas M, Michelsen AE, Reichborn-Kjennerud T, Nesvåg R, Agartz I, Melle I, Aukrust P, Djurovic S, Ueland T, Andreassen OA (2018)
    An association between YKL-40 and type 2 diabetes in psychotic disorders
    Acta Psychiatr Scand (in press)
    DOI 10.1111/acps.12971, PubMed 30328100
  14. Dominguez-Valentin M, Evans DGR, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
    Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
    Hered Cancer Clin Pract, 16, 4
    DOI 10.1186/s13053-018-0086-0, PubMed 29371908
  15. Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
    Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families
    Fam Cancer, 17 (1), 141-153
    DOI 10.1007/s10689-017-0011-0, PubMed 28608266
  16. Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
    Identification of genetic variants for clinical management of familial colorectal tumors
    BMC Med Genet, 19 (1), 26
    DOI 10.1186/s12881-018-0533-9, PubMed 29458332
  17. Dusanov S, Ruzzin J, Kiviranta H, Klemsdal TO, Retterstøl L, Rantakokko P, Airaksinen R, Djurovic S, Tonstad S (2018)
    Associations between persistent organic pollutants and metabolic syndrome in morbidly obese individuals
    Nutr Metab Cardiovasc Dis, 28 (7), 735-742
    DOI 10.1016/j.numecd.2018.03.004, PubMed 29699815
  18. EAS Familial Hypercholesterolaemia Studies Collaboration, EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) Investigators (2018)
    Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
    Atherosclerosis, 277, 234-255
    DOI 10.1016/j.atherosclerosis.2018.08.051, PubMed 30270054
  19. Ebenesersdóttir SS, Sandoval-Velasco M, Gunnarsdóttir ED, Jagadeesan A, Guðmundsdóttir VB, Thordardóttir EL, Einarsdóttir MS, Moore KHS, Sigurðsson Á, Magnúsdóttir DN, Jónsson H, Snorradóttir S, Hovig E, Møller P, Kockum I, Olsson T, Alfredsson L, Hansen TF, Werge T, Cavalleri GL, Gilbert E, Lalueza-Fox C, Walser JW, Kristjánsdóttir S, Gopalakrishnan S et al. (2018)
    Ancient genomes from Iceland reveal the making of a human population
    Science, 360 (6392), 1028-1032
    DOI 10.1126/science.aar2625, PubMed 29853688
  20. Eguíluz-Gracia I, Malmstrom K, Dheyauldeen SA, Lohi J, Sajantila A, Aaløkken R, Sundaram AYM, Gilfillan GD, Makela M, Baekkevold ES, Jahnsen FL (2018)
    Monocytes accumulate in the airways of children with fatal asthma
    Clin Exp Allergy, 48 (12), 1631-1639
    DOI 10.1111/cea.13265, PubMed 30184280
  21. Falkenberg-Jensen B, Heimdal KR, Høgevold HE, Jablonski GE, Due-Tønnessen BJ, Hopp E (2018)
    Abnormally wide eustachian tubes involving the sphenoid bone: A collection
    Laryngoscope Investig Otolaryngol, 3 (3), 214-217
    DOI 10.1002/lio2.158, PubMed 30062137
  22. Fevang B, Fagerli UM, Sorte H, Aarset H, Hov H, Langmyr M, Keil TM, Bjørge E, Aukrust P, Stray-Pedersen A, Gedde-Dahl T (2018)
    Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas
    Case Reports Immunol, 2018, 2053716
    DOI 10.1155/2018/2053716, PubMed 29888014
  23. Fjermestad KW, Nyhus L, Kanavin ØJ, Heiberg A, Hoxmark LB (2018)
    Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls
    J Genet Couns, 27 (5), 1102-1110
    DOI 10.1007/s10897-018-0229-5, PubMed 29429039
  24. Gamage TH, Gunnes G, Lee RH, Louch WE, Holmgren A, Bruton JD, Lengle E, Kolstad TRS, Revold T, Amundsen SS, Dalen KT, Holme PA, Tjønnfjord GE, Christensen G, Westerblad H, Klungland A, Bergmeier W, Misceo D, Frengen E (2018)
    STIM1 R304W causes muscle degeneration and impaired platelet activation in mice
    Cell Calcium, 76, 87-100
    DOI 10.1016/j.ceca.2018.10.001, PubMed 30390422
  25. Hasselberg NE, Berge KE, Rasmussen M, Früh A, Ørstavik K, Haugaa KH (2018)
    [Not Available]
    Tidsskr Nor Laegeforen, 138 (1)
    DOI 10.4045/tidsskr.16.0683, PubMed 29313627
  26. Hasselberg NE, Haland TF, Saberniak J, Brekke PH, Berge KE, Leren TP, Edvardsen T, Haugaa KH (2018)
    Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation
    Eur Heart J, 39 (10), 853-860
    DOI 10.1093/eurheartj/ehx596, PubMed 29095976
  27. Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH, Brodtkorb E (2018)
    Epilepsy in classic Rett syndrome: Course and characteristics in adult age
    Epilepsy Res, 145, 134-139
    DOI 10.1016/j.eplepsyres.2018.06.012, PubMed 29966812
  28. Henriksen MW, Ravn K, Paus B, von Tetzchner S, Skjeldal OH (2018)
    De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
    BMC Med Genet, 19 (1), 184
    DOI 10.1186/s12881-018-0700-z, PubMed 30305042
  29. Heramb C, Wangensteen T, Grindedal EM, Ariansen SL, Lothe S, Heimdal KR, Mæhle L (2018)
    BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway
    Hered Cancer Clin Pract, 16, 3
    DOI 10.1186/s13053-017-0085-6, PubMed 29339979
  30. Hjorthaug HS, Gervin K, Mowinckel P, Munthe-Kaas MC (2018)
    Exploring the influence from whole blood DNA extraction methods on Infinium 450K DNA methylation
    PLoS One, 13 (12), e0208699
    DOI 10.1371/journal.pone.0208699, PubMed 30540848
  31. Hoseth EZ, Krull F, Dieset I, Mørch RH, Hope S, Gardsjord ES, Steen NE, Melle I, Brattbakk HR, Steen VM, Aukrust P, Djurovic S, Andreassen OA, Ueland T (2018)
    Exploring the Wnt signaling pathway in schizophrenia and bipolar disorder
    Transl Psychiatry, 8 (1), 55
    DOI 10.1038/s41398-018-0102-1, PubMed 29507296
  32. Hoseth EZ, Krull F, Dieset I, Mørch RH, Hope S, Gardsjord ES, Steen NE, Melle I, Brattbakk HR, Steen VM, Aukrust P, Djurovic S, Andreassen OA, Ueland T (2018)
    Attenuated Notch signaling in schizophrenia and bipolar disorder
    Sci Rep, 8 (1), 5349
    DOI 10.1038/s41598-018-23703-w, PubMed 29593239
  33. Hughes T, Sønderby IE, Polushina T, Hansson L, Holmgren A, Athanasiu L, Melbø-Jørgensen C, Hassani S, Hoeffding LK, Herms S, Bergen SE, Karlsson R, Song J, Rietschel M, Nöthen MM, Forstner AJ, Hoffmann P, Hultman CM, Landén M, Cichon S, Werge T, Andreassen OA, Le Hellard S, Djurovic S (2018)
    Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder
    Transl Psychiatry, 8 (1), 210
    DOI 10.1038/s41398-018-0175-x, PubMed 30297702
  34. Jiang X, Dong X, Li SH, Zhou YP, Rayner S, Xia HM, Gao GF, Yuan H, Tang YP, Luo MH (2018)
    Proteomic Analysis of Zika Virus Infected Primary Human Fetal Neural Progenitors Suggests a Role for Doublecortin in the Pathological Consequences of Infection in the Cortex
    Front Microbiol, 9, 1067
    DOI 10.3389/fmicb.2018.01067, PubMed 29922247
  35. Johnsen GM, Størvold GL, Drabbels JJM, Haasnoot GW, Eikmans M, Spruyt-Gerritse MJ, Alnæs-Katjavivi P, Scherjon SA, Redman CWG, Claas FHJ, Staff AC (2018)
    The combination of maternal KIR-B and fetal HLA-C2 is associated with decidua basalis acute atherosis in pregnancies with preeclampsia
    J Reprod Immunol, 129, 23-29
    DOI 10.1016/j.jri.2018.07.005, PubMed 30055414
  36. Jørstad ØK, Ødegaard EM, Heimdal KR, Kerty E, Heimdal KR, Kerty E (2018)
    Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment
    J Neuroophthalmol, 38 (1), 129-131
    DOI 10.1097/WNO.0000000000000598, PubMed 29210930
  37. Kaikkonen E, Rantapero T, Zhang Q, Taimen P, Laitinen V, Kallajoki M, Jambulingam D, Ettala O, Knaapila J, Boström PJ, Wahlström G, Sipeky C, Pursiheimo JP, Tammela T, Kellokumpu-Lehtinen PL, PRACTICAL Consortium, Fey V, Maehle L, Wiklund F, Wei GH, Schleutker J (2018)
    ANO7 is associated with aggressive prostate cancer
    Int J Cancer, 143 (10), 2479-2487
    DOI 10.1002/ijc.31746, PubMed 30157291
  38. Kaufmann T, Alnæs D, Brandt CL, Bettella F, Djurovic S, Andreassen OA, Westlye LT (2018)
    Stability of the Brain Functional Connectome Fingerprint in Individuals With Schizophrenia
    JAMA Psychiatry, 75 (7), 749-751
    DOI 10.1001/jamapsychiatry.2018.0844, PubMed 29799905
  39. Kaveh F, Baumbusch LO, Nebdal D, Børresen-Dale AL, Lingjærde OC, Edvardsen H, Kristensen VN, Solvang HK (2018)
    Correction to: A systematic comparison of copy number alterations in four types of female cancer
    BMC Cancer, 18 (1), 80
    DOI 10.1186/s12885-017-3766-7, PubMed 29338700
  40. Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E et al. (2018)
    KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
    Genet Med (in press)
    DOI 10.1038/s41436-018-0259-2, PubMed 30245513
  41. Kim SJ, Huzarski T, Gronwald J, Singer CF, Møller P, Lynch HT, Armel S, Karlan BY, Foulkes WD, Neuhausen SL, Senter L, Eisen A, Eng C, Panchal S, Pal T, Olopade O, Zakalik D, Lubinski J, Narod SA, Kotsopoulos J, Hereditary Breast Cancer Clinical Study Group (2018)
    Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers
    Int J Epidemiol, 47 (3), 987-997
    DOI 10.1093/ije/dyy039, PubMed 29547931
  42. Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C (2018)
    Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
    Nat Genet, 50 (3), 344-348
    DOI 10.1038/s41588-018-0063-6, PubMed 29483653
  43. Kotsopoulos J, Gronwald J, Karlan B, Rosen B, Huzarski T, Moller P, Lynch HT, Singer CF, Senter L, Neuhausen SL, Tung N, Eisen A, Foulkes WD, Ainsworth P, Sun P, Lubinski J, Narod SA, Hereditary Ovarian Cancer Clinical Study Group (2018)
    Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation
    Gynecol Oncol, 150 (1), 85-91
    DOI 10.1016/j.ygyno.2018.05.011, PubMed 29793803
  44. Kotsopoulos J, Gronwald J, Karlan BY, Huzarski T, Tung N, Moller P, Armel S, Lynch HT, Senter L, Eisen A, Singer CF, Foulkes WD, Jacobson MR, Sun P, Lubinski J, Narod SA, Hereditary Breast Cancer Clinical Study Group (2018)
    Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers
    JAMA Oncol, 4 (8), 1059-1065
    DOI 10.1001/jamaoncol.2018.0211, PubMed 29710224
  45. Kulkarni RU, Vandenberghe M, Thunemann M, James F, Andreassen OA, Djurovic S, Devor A, Miller EW (2018)
    In Vivo Two-Photon Voltage Imaging with Sulfonated Rhodamine Dyes
    ACS Cent Sci, 4 (10), 1371-1378
    DOI 10.1021/acscentsci.8b00422, PubMed 30410975
  46. Kverneland M, Molteberg E, Iversen PO, Veierød MB, Taubøll E, Selmer KK, Nakken KO (2018)
    Effect of modified Atkins diet in adults with drug-resistant focal epilepsy: A randomized clinical trial
    Epilepsia, 59 (8), 1567-1576
    DOI 10.1111/epi.14457, PubMed 29901816
  47. Lam M, Trampush JW, Yu J, Knowles E, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Chiba-Falek O et al. (2018)
    Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018)
    Twin Res Hum Genet, 21 (5), 394-397
    DOI 10.1017/thg.2018.46, PubMed 30001766
  48. Lande A, Andersen I, Egeland T, Lie BA, Viken MK (2018)
    HLA -A, -C, -B, -DRB1, -DQB1 and -DPB1 allele and haplotype frequencies in 4514 healthy Norwegians
    Hum Immunol, 79 (7), 527-529
    DOI 10.1016/j.humimm.2018.04.012, PubMed 29684411
  49. Langerud J, Jarhelle E, Van Ghelue M, Ariansen SL, Iversen N (2018)
    Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
    Hum Genomics, 12 (1), 51
    DOI 10.1186/s40246-018-0183-1, PubMed 30458859
  50. LeBlanc M, Nustad HE, Zucknick M, Page CM (2018)
    Quality control for Illumina 450K methylation data in the absence of iDat files using correlation structure in pedigrees and repeated measures
    BMC Genet, 19 (Suppl 1), 66
    DOI 10.1186/s12863-018-0636-5, PubMed 30255766
  51. Li W, Fan CC, Mäki-Marttunen T, Thompson WK, Schork AJ, Bettella F, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Djurovic S, Dale AM, Andreassen OA, Wang Y (2018)
    A molecule-based genetic association approach implicates a range of voltage-gated calcium channels associated with schizophrenia
    Am J Med Genet B Neuropsychiatr Genet, 177 (4), 454-467
    DOI 10.1002/ajmg.b.32634, PubMed 29704319
  52. Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH et al. (2018)
    Biallelic variants in KIF14 cause intellectual disability with microcephaly
    Eur J Hum Genet, 26 (3), 330-339
    DOI 10.1038/s41431-017-0088-9, PubMed 29343805
  53. Matejcic M, Saunders EJ, Dadaev T, Brook MN, Wang K, Sheng X, Olama AAA, Schumacher FR, Ingles SA, Govindasami K, Benlloch S, Berndt SI, Albanes D, Koutros S, Muir K, Stevens VL, Gapstur SM, Tangen CM, Batra J, Clements J, Gronberg H, Pashayan N, Schleutker J, Wolk A, West C et al. (2018)
    Germline variation at 8q24 and prostate cancer risk in men of European ancestry
    Nat Commun, 9 (1), 4616
    DOI 10.1038/s41467-018-06863-1, PubMed 30397198
  54. Menke LA, DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B et al. (2018)
    Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
    Am J Med Genet A, 176 (4), 862-876
    DOI 10.1002/ajmg.a.38626, PubMed 29460469
  55. Mikropoulos C, Hutten Selkirk CG, Saya S, Bancroft E, Vertosick E, Dadaev T, Brendler C, Page E, Dias A, Evans DG, Rothwell J, Maehle L, Axcrona K, Richardson K, Eccles D, Jensen T, Osther PJ, van Asperen CJ, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Hart R, Glover W et al. (2018)
    Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
    Br J Cancer, 118 (6), e17
    DOI 10.1038/bjc.2018.11, PubMed 29509747
  56. Mikropoulos C, Selkirk CGH, Saya S, Bancroft E, Vertosick E, Dadaev T, Brendler C, Page E, Dias A, Evans DG, Rothwell J, Maehle L, Axcrona K, Richardson K, Eccles D, Jensen T, Osther PJ, van Asperen CJ, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Hart R, Glover W et al. (2018)
    Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
    Br J Cancer, 118 (2), 266-276
    DOI 10.1038/bjc.2017.429, PubMed 29301143
  57. Mundal LJ, Igland J, Veierød MB, Holven KB, Ose L, Selmer RM, Wisloff T, Kristiansen IS, Tell GS, Leren TP, Retterstøl K (2018)
    Impact of age on excess risk of coronary heart disease in patients with familial hypercholesterolaemia
    Heart, 104 (19), 1600-1607
    DOI 10.1136/heartjnl-2017-312706, PubMed 29622598
  58. Mäki-Marttunen T, Krull F, Bettella F, Hagen E, Næss S, Ness TV, Moberget T, Elvsåshagen T, Metzner C, Devor A, Edwards AG, Fyhn M, Djurovic S, Dale AM, Andreassen OA, Einevoll GT (2018)
    Alterations in Schizophrenia-Associated Genes Can Lead to Increased Power in Delta Oscillations
    Cereb Cortex (in press)
    DOI 10.1093/cercor/bhy291, PubMed 30475994
  59. Møller P, Hovig E (2018)
    Our genes, our selves: hereditary breast cancer and biological citizenship in Norway
    Med Health Care Philos, 21 (2), 239-242
    DOI 10.1007/s11019-017-9803-0, PubMed 28939999
  60. Møller P, Hovig E (2018)
    Retraction Note to: The BRCA2 variant c.68-7 T > A is associated with breast cancer
    Hered Cancer Clin Pract, 16, 10
    DOI 10.1186/s13053-018-0093-1, PubMed 29745381
  61. Navarro-Fernández J, Eugenia de la Morena-Barrio M, Martínez-Alonso E, Dybedal I, Toderici M, Bohdan N, Miñano A, Heimdal K, Abildgaard U, Martínez-Menárguez JÁ, Corral J, Vicente V (2018)
    Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family
    Oncotarget, 9 (69), 33202-33214
    DOI 10.18632/oncotarget.26059, PubMed 30237862
  62. Norum J, Grindedal EM, Heramb C, Karsrud I, Ariansen SL, Undlien DE, Schlichting E, Mæhle L (2018)
    BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer
    ESMO Open, 3 (3), e000328
    DOI 10.1136/esmoopen-2018-000328, PubMed 29682331
  63. Nustad HE, Almeida M, Canty AJ, LeBlanc M, Page CM, Melton PE (2018)
    Epigenetics, heritability and longitudinal analysis
    BMC Genet, 19 (Suppl 1), 77
    DOI 10.1186/s12863-018-0648-1, PubMed 30255778
  64. Nustad HE, Page CM, Reiner AH, Zucknick M, LeBlanc M (2018)
    A Bayesian mixed modeling approach for estimating heritability
    BMC Proc, 12 (Suppl 9), 31
    DOI 10.1186/s12919-018-0131-z, PubMed 30275883
  65. Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, Carrera N, Legge SE, Bishop S, Cameron D, Hamshere ML, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, MacCabe JH, McCarroll SA, Baune BT, Breen G, Byrne EM, Dannlowski U, Eley TC, Hayward C, Martin NG, McIntosh AM et al. (2018)
    Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
    Nat Genet, 50 (3), 381-389
    DOI 10.1038/s41588-018-0059-2, PubMed 29483656
  66. Paus B (2018)
    The right to know amyotrophic lateral sclerosis Reply
    Tidsskr. Nor. Laegeforen., 138 (16), 1502-1503
  67. Paus B (2018)
    B. Paus responds
    Tidsskr Nor Laegeforen, 138 (16)
    DOI 10.4045/tidsskr.18.0735, PubMed 30344325
  68. Paus B (2018)
    Perhaps test, often explore, always counsel
    Tidsskr Nor Laegeforen, 138 (13)
    DOI 10.4045/tidsskr.18.0574, PubMed 30180484
  69. Pla A, Zhong X, Rayner S (2018)
    miRAW: A deep learning-based approach to predict microRNA targets by analyzing whole microRNA transcripts
    PLoS Comput Biol, 14 (7), e1006185
    DOI 10.1371/journal.pcbi.1006185, PubMed 30005074
  70. Rama M, Duflos C, Melki I, Bessis D, Bonhomme A, Martin H, Doummar D, Valence S, Rodriguez D, Carme E, Genevieve D, Heimdal K, Insalaco A, Franck N, Queyrel-Moranne V, Tieulie N, London J, Uettwiller F, Georgin-Lavialle S, Belot A, Koné-Paut I, Hentgen V, Boursier G, Touitou I, Sarrabay G (2018)
    A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
    Eur J Hum Genet, 26 (7), 960-971
    DOI 10.1038/s41431-018-0130-6, PubMed 29681619
  71. Ribarska T, Gilfillan GD (2018)
    Native Chromatin Immunoprecipitation-Sequencing (ChIP-Seq) from Low Cell Numbers
    Methods Mol Biol, 1689, 157-166
    DOI 10.1007/978-1-4939-7380-4_14, PubMed 29027173
  72. Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B (2018)
    Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report
    BMC Med Genet, 19 (1), 155
    DOI 10.1186/s12881-018-0671-0, PubMed 30170566
  73. Rounge TB, Umu SU, Keller A, Meese E, Ursin G, Tretli S, Lyle R, Langseth H (2018)
    Circulating small non-coding RNAs associated with age, sex, smoking, body mass and physical activity
    Sci Rep, 8 (1), 17650
    DOI 10.1038/s41598-018-35974-4, PubMed 30518766
  74. Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C (2018)
    A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
    Eur J Neurol, 25 (7), 943-e71
    DOI 10.1111/ene.13625, PubMed 29528531
  75. Santoro F, Pettini E, Kazmin D, Ciabattini A, Fiorino F, Gilfillan GD, Evenroed IM, Andersen P, Pozzi G, Medaglini D (2018)
    Transcriptomics of the Vaccine Immune Response: Priming With Adjuvant Modulates Recall Innate Responses After Boosting
    Front Immunol, 9, 1248
    DOI 10.3389/fimmu.2018.01248, PubMed 29922291
  76. Sanyal N, Lo MT, Kauppi K, Djurovic S, Andreassen OA, Johnson VE, Chen CH (2018)
    GWASinlps: Nonlocal prior based iterative SNP selection tool for genome-wide association studies
    Bioinformatics (in press)
    DOI 10.1093/bioinformatics/bty472, PubMed 29931045
  77. Savage JE, Jansen PR, Stringer S, Watanabe K, Bryois J, de Leeuw CA, Nagel M, Awasthi S, Barr PB, Coleman JRI, Grasby KL, Hammerschlag AR, Kaminski JA, Karlsson R, Krapohl E, Lam M, Nygaard M, Reynolds CA, Trampush JW, Young H, Zabaneh D, Hägg S, Hansell NK, Karlsson IK, Linnarsson S et al. (2018)
    Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence
    Nat Genet, 50 (7), 912-919
    DOI 10.1038/s41588-018-0152-6, PubMed 29942086
  78. Schumacher FR, Al Olama AA, Berndt SI, Benlloch S, Ahmed M, Saunders EJ, Dadaev T, Leongamornlert D, Anokian E, Cieza-Borrella C, Goh C, Brook MN, Sheng X, Fachal L, Dennis J, Tyrer J, Muir K, Lophatananon A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman PJ, Thompson IM, Batra J et al. (2018)
    Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
    Nat Genet, 50 (7), 928-936
    DOI 10.1038/s41588-018-0142-8, PubMed 29892016
  79. Segorbe D, Wilkinson D, Mizeranschi A, Hughes T, Aaløkken R, Váchová L, Palková Z, Gilfillan GD (2018)
    An optimized FAIRE procedure for low cell numbers in yeast
    Yeast, 35 (8), 507-512
    DOI 10.1002/yea.3316, PubMed 29577419
  80. Singer CF, Balmaña J, Bürki N, Delaloge S, Filieri ME, Gerdes AM, Grindedal EM, Han S, Johansson O, Kaufman B, Krajc M, Loman N, Olah E, Paluch-Shimon S, Plavetic ND, Pohlodek K, Rhiem K, Teixeira M, Evans DG (2018)
    Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations
    Eur J Cancer, 106, 54-60 (in press)
    DOI 10.1016/j.ejca.2018.10.007, PubMed 30471648
  81. Sitek JC, Kulseth MA, Rypdal KB, Skodje T, Sheng Y, Retterstøl L (2018)
    Whole-exome sequencing for diagnosis of hereditary ichthyosis
    J Eur Acad Dermatol Venereol, 32 (6), 1022-1027
    DOI 10.1111/jdv.14870, PubMed 29444371
  82. Sjaastad O, Blau N, Rydning SL, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J (2018)
    Homocarnosinosis: A historical update and findings in the SPG11 gene
    Acta Neurol Scand, 138 (3), 245-250
    DOI 10.1111/ane.12949, PubMed 29732542
  83. Skogseid IM, Røsby O, Konglund A, Connelly JP, Nedregaard B, Jablonski GE, Kvernmo N, Stray-Pedersen A, Glover JC (2018)
    Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation
    J Neurodev Disord, 10 (1), 17
    DOI 10.1186/s11689-018-9235-z, PubMed 29788902
  84. Smeland OB, Wang Y, Frei O, Li W, Hibar DP, Franke B, Bettella F, Witoelar A, Djurovic S, Chen CH, Thompson PM, Dale AM, Andreassen OA (2018)
    Genetic Overlap Between Schizophrenia and Volumes of Hippocampus, Putamen, and Intracranial Volume Indicates Shared Molecular Genetic Mechanisms
    Schizophr Bull, 44 (4), 854-864
    DOI 10.1093/schbul/sbx148, PubMed 29136250
  85. Srinivasan S, Bettella F, Frei O, Hill WD, Wang Y, Witoelar A, Schork AJ, Thompson WK, Davies G, Desikan RS, Deary IJ, Melle I, Ueland T, Dale AM, Djurovic S, Smeland OB, Andreassen OA (2018)
    Enrichment of genetic markers of recent human evolution in educational and cognitive traits
    Sci Rep, 8 (1), 12585
    DOI 10.1038/s41598-018-30387-9, PubMed 30135563
  86. Steineger J, Osnes T, Heimdal K, Dheyauldeen S (2018)
    Long-term experience with intranasal bevacizumab therapy
    Laryngoscope, 128 (10), 2237-2244
    DOI 10.1002/lary.27147, PubMed 29469958
  87. Steineger J, Ueland T, Aukrust P, Michelsen A, Osnes T, Heimdal K, Dheyauldeen S (2018)
    Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis
    Laryngoscope (in press)
    DOI 10.1002/lary.27548, PubMed 30329172
  88. Stokowy T, Polushina T, Sønderby IE, Karlsson R, Giddaluru S, Le Hellard S, Bergen SE, Sullivan PF, Andreassen OA, Djurovic S, Hultman CM, Steen VM (2018)
    Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes
    Sci Rep, 8 (1), 6915
    DOI 10.1038/s41598-018-25280-4, PubMed 29720671
  89. Stormorken AT, Berg T, Norum OJ, Hølmebakk T, Aaberg K, Steigen SE, Grindedal EM (2018)
    APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis
    Fam Cancer, 17 (4), 539-543
    DOI 10.1007/s10689-018-0072-8, PubMed 29368261
  90. Strømme P, Groeneweg S, Lima de Souza EC, Zevenbergen C, Torgersbråten A, Holmgren A, Gurcan E, Meima ME, Peeters RP, Visser WE, Høneren Johansson L, Babovic A, Zetterberg H, Heuer H, Frengen E, Misceo D, Visser TJ (2018)
    Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
    Thyroid, 28 (11), 1406-1415
    DOI 10.1089/thy.2018.0595, PubMed 30296914
  91. Stüken A, Haverkamp THA, Dirven HAAM, Gilfillan GD, Leithaug M, Lund V (2018)
    Microbial Community Composition of Tap Water and Biofilms Treated with or without Copper-Silver Ionization
    Environ Sci Technol, 52 (6), 3354-3364
    DOI 10.1021/acs.est.7b05963, PubMed 29461810
  92. Størdal K, McArdle HJ, Hayes H, Tapia G, Viken MK, Lund-Blix NA, Haugen M, Joner G, Skrivarhaug T, Mårild K, Njølstad PR, Eggesbø M, Mandal S, Page CM, London SJ, Lie BA, Stene LC (2018)
    Prenatal iron exposure and childhood type 1 diabetes
    Sci Rep, 8 (1), 9067
    DOI 10.1038/s41598-018-27391-4, PubMed 29899542
  93. Syvertsen M, Selmer K, Enger U, Nakken KO, Pal DK, Smith A, Koht J (2018)
    Psychosocial complications in juvenile myoclonic epilepsy
    Epilepsy Behav, 90, 122-128 (in press)
    DOI 10.1016/j.yebeh.2018.11.022, PubMed 30530133
  94. Szabo A, Gogolak P, Koncz G, Foldvari Z, Pazmandi K, Miltner N, Poliska S, Bacsi A, Djurovic S, Rajnavolgyi E (2018)
    Immunomodulatory capacity of the serotonin receptor 5-HT2B in a subset of human dendritic cells
    Sci Rep, 8 (1), 1765
    DOI 10.1038/s41598-018-20173-y, PubMed 29379077
  95. Søberg K, Skålhegg BS (2018)
    The Molecular Basis for Specificity at the Level of the Protein Kinase a Catalytic Subunit
    Front Endocrinol (Lausanne), 9, 538
    DOI 10.3389/fendo.2018.00538, PubMed 30258407
  96. Sønderby IE, Gústafsson Ó, Doan NT, Hibar DP, Martin-Brevet S, Westlye LT, Jacquemont S, Djurovic S, Stefánsson H, Stefánsson K, Thompson PM, Andreassen OA, 16p11.2 European Consortium; for the ENIGMA-CNV working group (2018)
    Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
    Mol Psychiatry (in press)
    DOI 10.1038/s41380-018-0118-1, PubMed 30283035
  97. Thunemann M, Lu Y, Liu X, Kılıç K, Desjardins M, Vandenberghe M, Sadegh S, Saisan PA, Cheng Q, Weldy KL, Lyu H, Djurovic S, Andreassen OA, Dale AM, Devor A, Kuzum D (2018)
    Deep 2-photon imaging and artifact-free optogenetics through transparent graphene microelectrode arrays
    Nat Commun, 9 (1), 2035
    DOI 10.1038/s41467-018-04457-5, PubMed 29789548
  98. Tinholt M, Garred Ø, Borgen E, Beraki E, Schlichting E, Kristensen V, Sahlberg KK, Iversen N (2018)
    Subtype-specific clinical and prognostic relevance of tumor-expressed F5 and regulatory F5 variants in breast cancer: the CoCaV study
    J Thromb Haemost, 16 (7), 1347-1356
    DOI 10.1111/jth.14151, PubMed 29766637
  99. Tuveng JM, Berling BM, Bunford G, Vanoye CG, Welch RC, Leren TP, George AL, Rognum TO (2018)
    Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death
    Forensic Sci Med Pathol, 14 (3), 367-371
    DOI 10.1007/s12024-018-9989-3, PubMed 29881912
  100. Vaccaro CA, López-Kostner F, Adriana DV, Palmero EI, Rossi BM, Antelo M, Solano A, Carraro DM, Forones NM, Bohorquez M, Lino-Silva LS, Buleje J, Spirandelli F, Abe-Sandes K, Nascimento I, Sullcahuaman Y, Sarroca C, Gonzalez ML, Herrando AI, Alvarez K, Neffa F, Galvão HC, Esperon P, Golubicki M, Cisterna D et al. (2018)
    From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America
    Int J Cancer (in press)
    DOI 10.1002/ijc.31920, PubMed 30303536
  101. van der Meer D, Rokicki J, Kaufmann T, Córdova-Palomera A, Moberget T, Alnæs D, Bettella F, Frei O, Doan NT, Sønderby IE, Smeland OB, Agartz I, Bertolino A, Bralten J, Brandt CL, Buitelaar JK, Djurovic S, van Donkelaar M, Dørum ES, Espeseth T, Faraone SV, Fernández G, Fisher SE, Franke B, Haatveit B et al. (2018)
    Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes
    Mol Psychiatry (in press)
    DOI 10.1038/s41380-018-0262-7, PubMed 30279459
  102. Vanem TT, Geiran OR, Krohg-Sørensen K, Røe C, Paus B, Rand-Hendriksen S (2018)
    Survival, causes of death, and cardiovascular events in patients with Marfan syndrome
    Mol Genet Genomic Med (in press)
    DOI 10.1002/mgg3.489, PubMed 30393980
  103. Wilkinson D, Maršíková J, Hlaváček O, Gilfillan GD, Ježková E, Aaløkken R, Váchová L, Palková Z (2018)
    Transcriptome Remodeling of Differentiated Cells during Chronological Ageing of Yeast Colonies: New Insights into Metabolic Differentiation
    Oxid Med Cell Longev, 2018, 4932905
    DOI 10.1155/2018/4932905, PubMed 29576850
  104. Wilkinson D, Váchová L, Hlaváček O, Maršíková J, Gilfillan GD, Palková Z (2018)
    Long Noncoding RNAs in Yeast Cells and Differentiated Subpopulations of Yeast Colonies and Biofilms
    Oxid Med Cell Longev, 2018, 4950591
    DOI 10.1155/2018/4950591, PubMed 29765496
  105. Yang B, Liu XJ, Yao Y, Jiang X, Wang XZ, Yang H, Sun JY, Miao Y, Wang W, Huang ZL, Wang Y, Tang Q, Rayner S, Britt WJ, McVoy MA, Luo MH, Zhao F (2018)
    WDR5 Facilitates Human Cytomegalovirus Replication by Promoting Capsid Nuclear Egress
    J Virol, 92 (9)
    DOI 10.1128/JVI.00207-18, PubMed 29437978
  106. Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L et al. (2018)
    Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
    Genet Med (in press)
    DOI 10.1038/s41436-018-0085-6, PubMed 30158690
  107. Zuber V, Jönsson EG, Frei O, Witoelar A, Thompson WK, Schork AJ, Bettella F, Wang Y, Djurovic S, Smeland OB, Dieset I, Fanous AH, Desikan RS, Küry S, Bézieau S, Dale AM, Mills IG, Andreassen OA (2018)
    Identification of shared genetic variants between schizophrenia and lung cancer
    Sci Rep, 8 (1), 674
    DOI 10.1038/s41598-017-16481-4, PubMed 29330379

Publications 2017

  1. Andresen MS, Ali HO, Myklebust CF, Sandset PM, Stavik B, Iversen N, Skretting G (2017)
    Estrogen induced expression of tissue factor pathway inhibitor-2 in MCF7 cells involves lysine-specific demethylase 1
    Mol Cell Endocrinol, 443, 80-88
    DOI 10.1016/j.mce.2017.01.016, PubMed 28088469
  2. Ansar M, Riazuddin S, Sarwar MT, Makrythanasis P, Paracha SA, Iqbal Z, Khan J, Assir MZ, Hussain M, Razzaq A, Polla DL, Taj AS, Holmgren A, Batool N, Misceo D, Iwaszkiewicz J, de Brouwer APM, Guipponi M, Hanquinet S, Zoete V, Santoni FA, Frengen E, Ahmed J, Riazuddin S, van Bokhoven H et al. (2017)
    Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
    Genet Med, 20 (7), 778-784
    DOI 10.1038/gim.2017.113, PubMed 28837161
  3. Bjørgo K, Fjær R, Mørk HH, Ferdinandusse S, Falkenberg KD, Waterham HR, Øye AM, Sikiric A, Amundsen SS, Kulseth MA, Selmer K (2017)
    Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
    Mol Genet Metab, 121 (4), 325-328
    DOI 10.1016/j.ymgme.2017.06.004, PubMed 28673549
  4. Caddeo A, Mancina RM, Pirazzi C, Russo C, Sasidharan K, Sandstedt J, Maurotti S, Montalcini T, Pujia A, Leren TP, Romeo S, Pingitore P (2017)
    Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia
    Nutr Metab Cardiovasc Dis, 28 (2), 158-164
    DOI 10.1016/j.numecd.2017.11.003, PubMed 29288010
  5. Chen CH, Wang Y, Lo MT, Schork A, Fan CC, Holland D, Kauppi K, Smeland OB, Djurovic S, Sanyal N, Hibar DP, Thompson PM, Thompson WK, Andreassen OA, Dale AM (2017)
    Leveraging genome characteristics to improve gene discovery for putamen subcortical brain structure
    Sci Rep, 7 (1), 15736
    DOI 10.1038/s41598-017-15705-x, PubMed 29147026
  6. Chen H, Ewing CM, Zheng S, Grindedaal EM, Cooney KA, Wiley K, Djurovic S, Andreassen OA, Axcrona K, Mills IG, Xu J, Maehle L, Fosså SD, Isaacs WB (2017)
    Genetic factors influencing prostate cancer risk in Norwegian men
    Prostate, 78 (3), 186-192
    DOI 10.1002/pros.23453, PubMed 29181843
  7. Cheng S, Jiang X, Yang B, Wen L, Zhao F, Zeng WB, Liu XJ, Dong X, Sun JY, Ming YZ, Zhu H, Rayner S, Tang Q, Fortunato E, Luo MH (2017)
    Infected T98G glioblastoma cells support human cytomegalovirus reactivation from latency
    Virology, 510, 205-215
    DOI 10.1016/j.virol.2017.07.023, PubMed 28750324
  8. Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2017)
    Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study
    Urology, 104, 70-76
    DOI 10.1016/j.urology.2017.02.023, PubMed 28232177
  9. Cui XY, Skretting G, Tinholt M, Stavik B, Dahm AEA, Sahlberg KK, Kanse S, Iversen N, Sandset PM (2017)
    A novel hypoxia response element regulates oxygen-related repression of tissue factor pathway inhibitor in the breast cancer cell line MCF-7
    Thromb Res, 157, 111-116
    DOI 10.1016/j.thromres.2017.07.013, PubMed 28734156
  10. de Muinck EJ, Trosvik P, Gilfillan GD, Hov JR, Sundaram AYM (2017)
    A novel ultra high-throughput 16S rRNA gene amplicon sequencing library preparation method for the Illumina HiSeq platform
    Microbiome, 5 (1), 68
    DOI 10.1186/s40168-017-0279-1, PubMed 28683838
  11. Dejgaard LA, Haland TF, Lie OH, Ribe M, Bjune T, Leren IS, Berge KE, Edvardsen T, Haugaa KH (2017)
    Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy
    Data Brief, 15, 30-39
    DOI 10.1016/j.dib.2017.08.018, PubMed 28971120
  12. Devor A, Andreassen OA, Wang Y, Mäki-Marttunen T, Smeland OB, Fan CC, Schork AJ, Holland D, Thompson WK, Witoelar A, Chen CH, Desikan RS, McEvoy LK, Djurovic S, Greengard P, Svenningsson P, Einevoll GT, Dale AM (2017)
    Genetic evidence for role of integration of fast and slow neurotransmission in schizophrenia
    Mol Psychiatry, 22 (6), 792-801
    DOI 10.1038/mp.2017.33, PubMed 28348379
  13. Doan NT, Kaufmann T, Bettella F, Jørgensen KN, Brandt CL, Moberget T, Alnæs D, Douaud G, Duff E, Djurovic S, Melle I, Ueland T, Agartz I, Andreassen OA, Westlye LT (2017)
    Distinct multivariate brain morphological patterns and their added predictive value with cognitive and polygenic risk scores in mental disorders
    Neuroimage Clin, 15, 719-731
    DOI 10.1016/j.nicl.2017.06.014, PubMed 28702349
  14. Epi4K Consortium, EuroEPINOMICS-RES Consortium, Epilepsy Phenome Genome Project (2017)
    Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
    Eur J Hum Genet, 25 (7), 894-899
    DOI 10.1038/ejhg.2017.61, PubMed 28513609
  15. Falch CM, Sundaram AYM, Øystese KA, Normann KR, Lekva T, Silamikelis I, Eieland AK, Andersen M, Bollerslev J, Olarescu NC (2017)
    Gene expression profiling of fast- and slow-growing non-functioning gonadotroph pituitary adenomas
    Eur J Endocrinol, 178 (3), 295-307
    DOI 10.1530/EJE-17-0702, PubMed 29259037
  16. Fuglerud BM, Lemma RB, Wanichawan P, Sundaram AYM, Eskeland R, Gabrielsen OS (2017)
    A c-Myb mutant causes deregulated differentiation due to impaired histone binding and abrogated pioneer factor function
    Nucleic Acids Res, 45 (13), 7681-7696
    DOI 10.1093/nar/gkx364, PubMed 28472346
  17. Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM et al. (2017)
    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
    Am J Hum Genet, 100 (6), 907-925
    DOI 10.1016/j.ajhg.2017.05.006, PubMed 28575647
  18. Gervin K, Nordeng H, Ystrom E, Reichborn-Kjennerud T, Lyle R (2017)
    Long-term prenatal exposure to paracetamol is associated with DNA methylation differences in children diagnosed with ADHD
    Clin Epigenetics, 9, 77
    DOI 10.1186/s13148-017-0376-9, PubMed 28785368
  19. Grindedal EM, Heramb C, Karsrud I, Ariansen SL, Mæhle L, Undlien DE, Norum J, Schlichting E (2017)
    Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers
    BMC Cancer, 17 (1), 438
    DOI 10.1186/s12885-017-3422-2, PubMed 28637432
  20. Haland TF, Hasselberg NE, Almaas VM, Dejgaard LA, Saberniak J, Leren IS, Berge KE, Haugaa KH, Edvardsen T (2017)
    The systolic paradox in hypertrophic cardiomyopathy
    Open Heart, 4 (1), e000571
    DOI 10.1136/openhrt-2016-000571, PubMed 28674623
  21. Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M (2017)
    Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
    J Med Genet, 55 (1), 28-38
    DOI 10.1136/jmedgenet-2017-104620, PubMed 29021403
  22. Hanssen EN, Lyle R, Egeland T, Gill P (2017)
    Degradation in forensic trace DNA samples explored by massively parallel sequencing
    Forensic Sci Int Genet, 27, 160-166
    DOI 10.1016/j.fsigen.2017.01.002, PubMed 28088090
  23. Henriksen EKK, Viken MK, Wittig M, Holm K, Folseraas T, Mucha S, Melum E, Hov JR, Lazaridis KN, Juran BD, Chazouillères O, Färkkilä M, Gotthardt DN, Invernizzi P, Carbone M, Hirschfield GM, Rushbrook SM, Goode E, UK-PSC Consortium, Ponsioen CY, Weersma RK, Eksteen B, Yimam KK, Gordon SC, Goldberg D et al. (2017)
    HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry
    HLA, 90 (4), 228-233
    DOI 10.1111/tan.13076, PubMed 28695657
  24. Hibar DP, Adams HHH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC, Arias-Vasquez A, Ikram MK, Desrivières S, Vernooij MW, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beecham AH, Beiser A, Bernard M, Blanton SH et al. (2017)
    Novel genetic loci associated with hippocampal volume
    Nat Commun, 8, 13624
    DOI 10.1038/ncomms13624, PubMed 28098162
  25. Holm I, Spildrejorde M, Stadheim B, Eiklid KL, Samarakoon PS (2017)
    Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios
    Gene, 624, 50-55
    DOI 10.1016/j.gene.2017.04.030, PubMed 28456592
  26. Hoseth EZ, Ueland T, Dieset I, Birnbaum R, Shin JH, Kleinman JE, Hyde TM, Mørch RH, Hope S, Lekva T, Abraityte AJ, Michelsen AE, Melle I, Westlye LT, Ueland T, Djurovic S, Aukrust P, Weinberger DR, Andreassen OA (2017)
    A Study of TNF Pathway Activation in Schizophrenia and Bipolar Disorder in Plasma and Brain Tissue
    Schizophr Bull, 43 (4), 881-890
    DOI 10.1093/schbul/sbw183, PubMed 28049760
  27. Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (2017)
    Increased risk of heart failure and atrial fibrillation in heterozygous familial hypercholesterolemia
    Atherosclerosis, 266, 69-73
    DOI 10.1016/j.atherosclerosis.2017.09.027, PubMed 28992466
  28. Jarhelle E, Riise Stensland HM, Mæhle L, Van Ghelue M (2017)
    Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort
    Fam Cancer, 16 (1), 1-16
    DOI 10.1007/s10689-016-9916-2, PubMed 27495310
  29. Jiang HF, Wang W, Jiang X, Zeng WB, Shen ZZ, Song YG, Yang H, Liu XJ, Dong X, Zhou J, Sun JY, Yu FL, Guo L, Cheng T, Rayner S, Zhao F, Zhu H, Luo MH (2017)
    ORF7 of Varicella-Zoster Virus Is Required for Viral Cytoplasmic Envelopment in Differentiated Neuronal Cells
    J Virol, 91 (12)
    DOI 10.1128/JVI.00127-17, PubMed 28356523
  30. Johannessen J, Nærland T, Hope S, Torske T, Høyland AL, Strohmaier J, Heiberg A, Rietschel M, Djurovic S, Andreassen OA (2017)
    Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample
    Int J Mol Sci, 18 (5)
    DOI 10.3390/ijms18051078, PubMed 28524073
  31. Kling D, Egeland T, Piñero MH, Vigeland MD (2017)
    Evaluating the statistical power of DNA-based identification, exemplified by 'The missing grandchildren of Argentina'
    Forensic Sci Int Genet, 31, 57-66
    DOI 10.1016/j.fsigen.2017.08.006, PubMed 28858673
  32. Krohg-Sørensen K, Lingaas PS, Lundblad R, Seem E, Paus B, Geiran OR (2017)
    Cardiovascular surgery in Loeys-Dietz syndrome types 1-4
    Eur J Cardiothorac Surg, 52 (6), 1125-1131
    DOI 10.1093/ejcts/ezx147, PubMed 28541520
  33. Lam M, Trampush JW, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE et al. (2017)
    Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets
    Cell Rep, 21 (9), 2597-2613
    DOI 10.1016/j.celrep.2017.11.028, PubMed 29186694
  34. Lande A, Kroken M, Rabben K, Retterstøl L (2017)
    Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients
    Am J Med Genet A, 176 (1), 175-180
    DOI 10.1002/ajmg.a.38533, PubMed 29159982
  35. Le Hellard S, Wang Y, Witoelar A, Zuber V, Bettella F, Hugdahl K, Espeseth T, Steen VM, Melle I, Desikan R, Schork AJ, Thompson WK, Dale AM, Djurovic S, Andreassen OA, Schizophrenia Working Group of the Psychiatric Genomics Consortium (2017)
    Identification of Gene Loci That Overlap Between Schizophrenia and Educational Attainment
    Schizophr Bull, 43 (3), 654-664
    DOI 10.1093/schbul/sbw085, PubMed 27338279
  36. Lee S, Norheim F, Gulseth HL, Langleite TM, Kolnes KJ, Tangen DS, Stadheim HK, Gilfillan GD, Holen T, Birkeland KI, Jensen J, Drevon CA (2017)
    Interaction between plasma fetuin-A and free fatty acids predicts changes in insulin sensitivity in response to long-term exercise
    Physiol Rep, 5 (5)
    DOI 10.14814/phy2.13183, PubMed 28270597
  37. Levin T, Mæhle L (2017)
    Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway
    Fam Cancer, 16 (2), 257-265
    DOI 10.1007/s10689-016-9939-8, PubMed 27804060
  38. Liu XJ, Yang B, Huang SN, Wu CC, Li XJ, Cheng S, Jiang X, Hu F, Ming YZ, Nevels M, Britt WJ, Rayner S, Tang Q, Zeng WB, Zhao F, Luo MH (2017)
    Human cytomegalovirus IE1 downregulates Hes1 in neural progenitor cells as a potential E3 ubiquitin ligase
    PLoS Pathog, 13 (7), e1006542
    DOI 10.1371/journal.ppat.1006542, PubMed 28750047
  39. Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF (2017)
    PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
    Eur J Hum Genet, 25 (5), 552-559
    DOI 10.1038/ejhg.2017.27, PubMed 28327570
  40. Lu Y, Pouget JG, Andreassen OA, Djurovic S, Esko T, Hultman CM, Metspalu A, Milani L, Werge T, Sullivan PF (2017)
    Genetic risk scores and family history as predictors of schizophrenia in Nordic registers
    Psychol Med, 48 (7), 1201-1208
    DOI 10.1017/S0033291717002665, PubMed 28942743
  41. Maršíková J, Wilkinson D, Hlaváček O, Gilfillan GD, Mizeranschi A, Hughes T, Begany M, Rešetárová S, Váchová L, Palková Z (2017)
    Metabolic differentiation of surface and invasive cells of yeast colony biofilms revealed by gene expression profiling
    BMC Genomics, 18 (1), 814
    DOI 10.1186/s12864-017-4214-4, PubMed 29061122
  42. Mellerup E, Andreassen OA, Bennike B, Dam H, Djurovic S, Jorgensen MB, Kessing LV, Koefoed P, Melle I, Mors O, Moeller GL (2017)
    Combinations of genetic variants associated with bipolar disorder
    PLoS One, 12 (12), e0189739
    DOI 10.1371/journal.pone.0189739, PubMed 29267373
  43. Mero IL, Mørk HH, Sheng Y, Blomhoff A, Opheim GL, Erichsen A, Vigeland MD, Selmer KK (2017)
    Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
    Hum Mol Genet, 26 (19), 3792-3796
    DOI 10.1093/hmg/ddx263, PubMed 28934391
  44. Møller P, Hovig E (2017)
    The BRCA2 variant c.68-7 T>A is associated with breast cancer
    Hered Cancer Clin Pract, 15, 20 (Retracted)
    DOI 10.1186/s13053-017-0080-y, PubMed 29158857
  45. Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M et al. (2017)
    Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
    Gut, 67 (7), 1306-1316
    DOI 10.1136/gutjnl-2017-314057, PubMed 28754778
  46. Mørch RH, Dieset I, Faerden A, Hope S, Aas M, Nerhus M, Gardsjord ES, Haram M, Falk RS, Joa I, Morken G, Agartz I, Aukrust P, Djurovic S, Melle I, Ueland T, Andreassen OA (2017)
    Persistent increase in TNF and IL-1 markers in severe mental disorders suggests trait-related inflammation: a one year follow-up study
    Acta Psychiatr Scand, 136 (4), 400-408
    DOI 10.1111/acps.12783, PubMed 28815548
  47. Mårild K, Tapia G, Haugen M, Dahl SR, Cohen AS, Lundqvist M, Lie BA, Stene LC, Størdal K (2017)
    Maternal and neonatal vitamin D status, genotype and childhood celiac disease
    PLoS One, 12 (7), e0179080
    DOI 10.1371/journal.pone.0179080, PubMed 28686601
  48. Olafsson S, Stridh P, Bos SD, Ingason A, Euesden J, Sulem P, Thorleifsson G, Gustafsson O, Johannesson A, Geirsson AJ, Thorsson AV, Sigurgeirsson B, Ludviksson BR, Olafsson E, Kristjansdottir H, Jonasson JG, Olafsson JH, Orvar KB, Benediktsson R, Bjarnason R, Kristjansdottir S, Gislason T, Valdimarsson T, Mikaelsdottir E, Sigurdsson S et al. (2017)
    Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations
    NPJ Genom Med, 2, 24
    DOI 10.1038/s41525-017-0027-2, PubMed 29263835
  49. Orstavik K, Garfelt B, Leren TP, Saberniak J, Haugaa K, Jonsrud C (2017)
    A 50 year old man with proximal power failure and heart disease
    Tidsskr. Nor. Laegeforen., 137 (16), 1206-1209
  50. Pakdaman Y, Sanchez-Guixé M, Kleppe R, Erdal S, Bustad HJ, Bjørkhaug L, Haugarvoll K, Tzoulis C, Heimdal K, Knappskog PM, Johansson S, Aukrust I (2017)
    In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
    Biosci Rep, 37 (2)
    DOI 10.1042/BSR20170251, PubMed 28396517
  51. Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A et al. (2017)
    GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
    J Med Genet, 54 (7), 460-470
    DOI 10.1136/jmedgenet-2016-104509, PubMed 28377535
  52. Popperud TH, Viken MK, Kerty E, Lie BA (2017)
    Juvenile myasthenia gravis in Norway: HLA-DRB1*04:04 is positively associated with prepubertal onset
    PLoS One, 12 (10), e0186383
    DOI 10.1371/journal.pone.0186383, PubMed 29036181
  53. Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK (2017)
    GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype
    Epilepsy Behav, 70 (Pt A), 1-4
    DOI 10.1016/j.yebeh.2017.02.016, PubMed 28407523
  54. Rayner S, Bruhn S, Vallhov H, Andersson A, Billmyre RB, Scheynius A (2017)
    Identification of small RNAs in extracellular vesicles from the commensal yeast Malassezia sympodialis
    Sci Rep, 7, 39742
    DOI 10.1038/srep39742, PubMed 28051166
  55. Reppe S, Lien TG, Hsu YH, Gautvik VT, Olstad OK, Yu R, Bakke HG, Lyle R, Kringen MK, Glad IK, Gautvik KM (2017)
    Distinct DNA methylation profiles in bone and blood of osteoporotic and healthy postmenopausal women
    Epigenetics, 12 (8), 674-687
    DOI 10.1080/15592294.2017.1345832, PubMed 28650214
  56. Retterstøl K, Narverud I, Selmer R, Berge KE, Osnes IV, Ulven SM, Halvorsen B, Aukrust P, Holven KB, Iversen PO (2017)
    Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics
    Lipids Health Dis, 16 (1), 115
    DOI 10.1186/s12944-017-0511-9, PubMed 28606150
  57. Rossi BM, Palmero EI, López-Kostner F, Sarroca C, Vaccaro CA, Spirandelli F, Ashton-Prolla P, Rodriguez Y, de Campos Reis Galvão H, Reis RM, Escremim de Paula A, Capochin Romagnolo LG, Alvarez K, Della Valle A, Neffa F, Kalfayan PG, Spirandelli E, Chialina S, Gutiérrez Angulo M, Castro-Mujica MDC, Sanchez de Monte J, Quispe R, da Silva SD, Rossi NT, Barletta-Carrillo C et al. (2017)
    A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
    BMC Cancer, 17 (1), 623
    DOI 10.1186/s12885-017-3599-4, PubMed 28874130
  58. Rustad CF, Dahl HM, Bowers NL, Sitek JC, Heiberg A, Huson S, Prescott T, Evans DGR (2017)
    Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
    Am J Med Genet A, 173 (5), 1447-1449
    DOI 10.1002/ajmg.a.38177, PubMed 28371307
  59. Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK (2017)
    Novel UCHL1 mutations reveal new insights into ubiquitin processing
    Hum Mol Genet, 26 (6), 1031-1040
    DOI 10.1093/hmg/ddw391, PubMed 28007905
  60. Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK (2017)
    Novel UCHL1 mutations reveal new insights into ubiquitin processing
    Hum Mol Genet, 26 (6), 1217-1218
    DOI 10.1093/hmg/ddx072, PubMed 28334853
  61. Sarropoulou E, Sundaram AYM, Kaitetzidou E, Kotoulas G, Gilfillan GD, Papandroulakis N, Mylonas CC, Magoulas A (2017)
    Full genome survey and dynamics of gene expression in the greater amberjack Seriola dumerili
    Gigascience, 6 (12), 1-13
    DOI 10.1093/gigascience/gix108, PubMed 29126158
  62. Schinagl C, Melum GR, Rødningen OK, Bjørgo K, Andresen JH (2017)
    Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report
    J Med Case Rep, 11 (1), 226
    DOI 10.1186/s13256-017-1402-4, PubMed 28814329
  63. Seppälä T, Pylvänäinen K, Evans DG, Järvinen H, Renkonen-Sinisalo L, Bernstein I, Holinski-Feder E, Sala P, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Genuardi M, Green K et al. (2017)
    Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report
    Hered Cancer Clin Pract, 15, 18
    DOI 10.1186/s13053-017-0078-5, PubMed 29046738
  64. Sigstad E, Grøholt KK, Jørgensen K, Stormorken A, Li HS (2017)
    A woman in her thirties with breast cancer and bilateral goitre
    Tidsskr Nor Laegeforen, 137 (11), 806-809
    DOI 10.4045/tidsskr.16.0577, PubMed 28597636
  65. Smeland OB, Frei O, Kauppi K, Hill WD, Li W, Wang Y, Krull F, Bettella F, Eriksen JA, Witoelar A, Davies G, Fan CC, Thompson WK, Lam M, Lencz T, Chen CH, Ueland T, Jönsson EG, Djurovic S, Deary IJ, Dale AM, Andreassen OA, NeuroCHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) Cognitive Working Group (2017)
    Identification of Genetic Loci Jointly Influencing Schizophrenia Risk and the Cognitive Traits of Verbal-Numerical Reasoning, Reaction Time, and General Cognitive Function
    JAMA Psychiatry, 74 (10), 1065-1075
    DOI 10.1001/jamapsychiatry.2017.1986, PubMed 28746715
  66. Smeland OB, Wang Y, Lo MT, Li W, Frei O, Witoelar A, Tesli M, Hinds DA, Tung JY, Djurovic S, Chen CH, Dale AM, Andreassen OA (2017)
    Identification of genetic loci shared between schizophrenia and the Big Five personality traits
    Sci Rep, 7 (1), 2222
    DOI 10.1038/s41598-017-02346-3, PubMed 28533504
  67. Srinivasan S, Bettella F, Hassani S, Wang Y, Witoelar A, Schork AJ, Thompson WK, Collier DA, Desikan RS, Melle I, Dale AM, Djurovic S, Andreassen OA (2017)
    Probing the Association between Early Evolutionary Markers and Schizophrenia
    PLoS One, 12 (1), e0169227
    DOI 10.1371/journal.pone.0169227, PubMed 28081145
  68. Stavik B, Holm S, Espada S, Iversen N, Sporsheim B, Bjerkeli V, Dahl TB, Sandset PM, Skjelland M, Espevik T, Skretting G, Halvorsen B (2017)
    Increased expression of TFPI in human carotid stenosis
    Thromb Res, 155, 31-37
    DOI 10.1016/j.thromres.2017.04.024, PubMed 28482260
  69. Strøm TB, Laerdahl JK, Leren TP (2017)
    Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion
    Hum Mol Genet, 26 (9), 1634-1642
    DOI 10.1093/hmg/ddx068, PubMed 28334946
  70. Størdal K, Mårild K, Tapia G, Haugen M, Cohen AS, Lie BA, Stene LC (2017)
    Fetal and Maternal Genetic Variants Influencing Neonatal Vitamin D Status
    J Clin Endocrinol Metab, 102 (11), 4072-4079
    DOI 10.1210/jc.2017-00827, PubMed 28938476
  71. Subasinghe CJ, Sirisena ND, Herath C, Berge KE, Leren TP, Bulugahapitiya U, Dissanayake VHW (2017)
    Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report
    BMC Nephrol, 18 (1), 140
    DOI 10.1186/s12882-017-0563-0, PubMed 28446151
  72. Sundaram A, Tengs T, Grimholt U (2017)
    Issues with RNA-seq analysis in non-model organisms: A salmonid example
    Dev Comp Immunol, 75, 38-47
    DOI 10.1016/j.dci.2017.02.006, PubMed 28223254
  73. Trampush JW, Yang ML, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE et al. (2017)
    GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium
    Mol Psychiatry, 22 (3), 336-345
    DOI 10.1038/mp.2016.244, PubMed 28093568
  74. Trampush JW, Yang MLZ, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE et al. (2017)
    GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium
    Mol Psychiatry, 22 (11), 1651-1652
    DOI 10.1038/mp.2017.197, PubMed 29068436
  75. Umu SU, Langseth H, Bucher-Johannessen C, Fromm B, Keller A, Meese E, Lauritzen M, Leithaug M, Lyle R, Rounge TB (2017)
    A comprehensive profile of circulating RNAs in human serum
    RNA Biol, 15 (2), 242-250
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  76. Viken MK, Flåm ST, Skrivarhaug T, Amundsen SS, Sollid LM, Drivvoll AK, Joner G, Dahl-Jørgensen K, Lie BA (2017)
    HLA class II alleles in Norwegian patients with coexisting type 1 diabetes and celiac disease
    HLA, 89 (5), 278-284
    DOI 10.1111/tan.12986, PubMed 28247576
  77. Vinje T, Wierød L, Leren TP, Strøm TB (2017)
    Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene
    Mol Genet Metab, 123 (2), 169-176
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    Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
    Eur J Hum Genet, 25 (8), 946-951
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  79. Witoelar A, Jansen IE, Wang Y, Desikan RS, Gibbs JR, Blauwendraat C, Thompson WK, Hernandez DG, Djurovic S, Schork AJ, Bettella F, Ellinghaus D, Franke A, Lie BA, McEvoy LK, Karlsen TH, Lesage S, Morris HR, Brice A, Wood NW, Heutink P, Hardy J, Singleton AB, Dale AM, Gasser T et al. (2017)
    Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases
    JAMA Neurol, 74 (7), 780-792
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    Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia
    Transl Psychiatry, 7 (6), e1155
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    Psychotic patients who used cannabis frequently before illness onset have higher genetic predisposition to schizophrenia than those who did not
    Psychol Med, 48 (1), 43-49
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Publications 2016

  1. Adams HH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Rentería ME, Trompet S, Arias-Vasquez A, Seshadri S, Desrivières S, Beecham AH, Jahanshad N, Wittfeld K, Van der Lee SJ, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beiser A, Bernard M et al. (2016)
    Novel genetic loci underlying human intracranial volume identified through genome-wide association
    Nat Neurosci, 19 (12), 1569-1582
    DOI 10.1038/nn.4398, PubMed 27694991
  2. Ali HO, Arroyo AB, González-Conejero R, Stavik B, Iversen N, Sandset PM, Martínez C, Skretting G (2016)
    The role of microRNA-27a/b and microRNA-494 in estrogen-mediated downregulation of tissue factor pathway inhibitor α
    J Thromb Haemost, 14 (6), 1226-37
    DOI 10.1111/jth.13321, PubMed 26999003
  3. Ali HO, Stavik B, Myklebust CF, Andersen E, Dahm AE, Iversen N, Sandset PM, Skretting G (2016)
    Oestrogens Downregulate Tissue Factor Pathway Inhibitor through Oestrogen Response Elements in the 5'-Flanking Region
    PLoS One, 11 (3), e0152114
    DOI 10.1371/journal.pone.0152114, PubMed 26999742
  4. Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED et al. (2016)
    Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
    PLoS One, 11 (4), e0153757
    DOI 10.1371/journal.pone.0153757, PubMed 27124303
  5. Athanasiu L, Giddaluru S, Fernandes C, Christoforou A, Reinvang I, Lundervold AJ, Nilsson LG, Kauppi K, Adolfsson R, Eriksson E, Sundet K, Djurovic S, Espeseth T, Nyberg L, Steen VM, Andreassen OA, Le Hellard S (2016)
    A genetic association study of CSMD1 and CSMD2 with cognitive function
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    A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
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    DOI 10.1002/mgg3.237, PubMed 27896283
  68. Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ et al. (2016)
    STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
    Neurology, 86 (10), 954-62
    DOI 10.1212/WNL.0000000000002457, PubMed 26865513
  69. Stavik B, Espada S, Cui XY, Iversen N, Holm S, Mowinkel MC, Halvorsen B, Skretting G, Sandset PM (2016)
    EPAS1/HIF-2 alpha-mediated downregulation of tissue factor pathway inhibitor leads to a pro-thrombotic potential in endothelial cells
    Biochim Biophys Acta, 1862 (4), 670-678
    DOI 10.1016/j.bbadis.2016.01.017, PubMed 26826018
  70. Sundaram AY, Hughes T, Biondi S, Bolduc N, Bowman SK, Camilli A, Chew YC, Couture C, Farmer A, Jerome JP, Lazinski DW, McUsic A, Peng X, Shazand K, Xu F, Lyle R, Gilfillan GD (2016)
    A comparative study of ChIP-seq sequencing library preparation methods
    BMC Genomics, 17 (1), 816
    DOI 10.1186/s12864-016-3135-y, PubMed 27769162
  71. Sundvold H, Sundvold-Gjerstad V, Malerød-Fjeld H, Haglund K, Stenmark H, Malerød L (2016)
    Arv1 promotes cell division by recruiting IQGAP1 and myosin to the cleavage furrow
    Cell Cycle, 15 (5), 628-43
    DOI 10.1080/15384101.2016.1146834, PubMed 27104745
  72. Svendsen AJ, Gervin K, Lyle R, Christiansen L, Kyvik K, Junker P, Nielsen C, Houen G, Tan Q (2016)
    Differentially Methylated DNA Regions in Monozygotic Twin Pairs Discordant for Rheumatoid Arthritis: An Epigenome-Wide Study
    Front Immunol, 7, 510
    DOI 10.3389/fimmu.2016.00510, PubMed 27909437
  73. Syvertsen M, Hellum MK, Hansen G, Edland A, Nakken KO, Selmer KK, Koht J (2016)
    Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway
    Epilepsia, 58 (1), 105-112
    DOI 10.1111/epi.13613, PubMed 27861775
  74. Szabo A, Kovacs A, Riba J, Djurovic S, Rajnavolgyi E, Frecska E (2016)
    The Endogenous Hallucinogen and Trace Amine N,N-Dimethyltryptamine (DMT) Displays Potent Protective Effects against Hypoxia via Sigma-1 Receptor Activation in Human Primary iPSC-Derived Cortical Neurons and Microglia-Like Immune Cells
    Front Neurosci, 10, 423
    DOI 10.3389/fnins.2016.00423, PubMed 27683542
  75. Tekpli X, Urbanucci A, Hashim A, Vågbø CB, Lyle R, Kringen MK, Staff AC, Dybedal I, Mills IG, Klungland A, Staerk J (2016)
    Changes of 5-hydroxymethylcytosine distribution during myeloid and lymphoid differentiation of CD34+ cells
    Epigenetics Chromatin, 9, 21
    DOI 10.1186/s13072-016-0070-8, PubMed 27252783
  76. Tesli M, Wirgenes KV, Hughes T, Bettella F, Athanasiu L, Hoseth ES, Nerhus M, Lagerberg TV, Steen NE, Agartz I, Melle I, Dieset I, Djurovic S, Andreassen OA (2016)
    VRK2 gene expression in schizophrenia, bipolar disorder and healthy controls
    Br J Psychiatry, 209 (2), 114-20
    DOI 10.1192/bjp.bp.115.161950, PubMed 26941264
  77. Tinholt M, Sandset PM, Iversen N (2016)
    Polymorphisms of the coagulation system and risk of cancer
    Thromb Res, 140 Suppl 1, S49-54
    DOI 10.1016/S0049-3848(16)30098-6, PubMed 27067978
  78. Tinholt M, Sandset PM, Mowinckel MC, Garred Ø, Sahlberg KK, Kristensen VN, Børresen-Dale AL, Jacobsen AF, Skretting G, Iversen N (2016)
    Determinants of acquired activated protein C resistance and D-dimer in breast cancer
    Thromb Res, 145, 78-83
    DOI 10.1016/j.thromres.2016.08.003, PubMed 27505249
  79. Trucchi E, Mazzarella AB, Gilfillan GD, Lorenzo MT, Schönswetter P, Paun O (2016)
    BsRADseq: screening DNA methylation in natural populations of non-model species
    Mol Ecol, 25 (8), 1697-713
    DOI 10.1111/mec.13550, PubMed 26818626
  80. Uhlirova H, Kılıç K, Tian P, Sakadžić S, Gagnon L, Thunemann M, Desjardins M, Saisan PA, Nizar K, Yaseen MA, Hagler DJ, Vandenberghe M, Djurovic S, Andreassen OA, Silva GA, Masliah E, Kleinfeld D, Vinogradov S, Buxton RB, Einevoll GT, Boas DA, Dale AM, Devor A (2016)
    The roadmap for estimation of cell-type-specific neuronal activity from non-invasive measurements
    Philos Trans R Soc Lond B Biol Sci, 371 (1705)
    DOI 10.1098/rstb.2015.0356, PubMed 27574309
  81. Uhlirova H, Kılıç K, Tian P, Thunemann M, Desjardins M, Saisan PA, Sakadžić S, Ness TV, Mateo C, Cheng Q, Weldy KL, Razoux F, Vandenberghe M, Cremonesi JA, Ferri CG, Nizar K, Sridhar VB, Steed TC, Abashin M, Fainman Y, Masliah E, Djurovic S, Andreassen OA, Silva GA, Boas DA et al. (2016)
    Cell type specificity of neurovascular coupling in cerebral cortex
    Elife, 5
    DOI 10.7554/eLife.14315, PubMed 27244241
  82. Vigeland MD, Gjøtterud KS, Selmer KK (2016)
    FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector
    Bioinformatics, 32 (10), 1592-4
    DOI 10.1093/bioinformatics/btw046, PubMed 26819469
  83. Wang Y, Bos SD, Harbo HF, Thompson WK, Schork AJ, Bettella F, Witoelar A, Lie BA, Li W, McEvoy LK, Djurovic S, Desikan RS, Dale AM, Andreassen OA (2016)
    Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors
    Mult Scler, 22 (14), 1783-1793
    DOI 10.1177/1352458516635873, PubMed 26920376
  84. Wang Y, Thompson WK, Schork AJ, Holland D, Chen CH, Bettella F, Desikan RS, Li W, Witoelar A, Zuber V, Devor A, Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium, Enhancing Neuro Imaging Genetics through Meta Analysis Consortium, Nöthen MM, Rietschel M, Chen Q, Werge T, Cichon S, Weinberger DR, Djurovic S, O'Donovan M, Visscher PM, Andreassen OA, Dale AM (2016)
    Leveraging Genomic Annotations and Pleiotropic Enrichment for Improved Replication Rates in Schizophrenia GWAS
    PLoS Genet, 12 (1), e1005803
    DOI 10.1371/journal.pgen.1005803, PubMed 26808560
  85. Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S (2016)
    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
    PLoS One, 11 (3), e0150555
    DOI 10.1371/journal.pone.0150555, PubMed 26974433
  86. Wierød L, Cameron J, Strøm TB, Leren TP (2016)
    Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations
    Mol Genet Metab Rep, 9, 86-93
    DOI 10.1016/j.ymgmr.2016.11.003, PubMed 27896130
  87. Wikenius E, Moe V, Kjellevold M, Smith L, Lyle R, Waagbø R, Page CM, Myhre AM (2016)
    The Association between Hair Cortisol and Self-Reported Symptoms of Depression in Pregnant Women
    PLoS One, 11 (9), e0161804
    DOI 10.1371/journal.pone.0161804, PubMed 27584584
  88. Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ (2016)
    Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
    J Allergy Clin Immunol, 138 (4), 1142-1151.e2
    DOI 10.1016/j.jaci.2016.05.035, PubMed 27484032
  89. Zook JM, Catoe D, McDaniel J, Vang L, Spies N, Sidow A, Weng Z, Liu Y, Mason CE, Alexander N, Henaff E, McIntyre AB, Chandramohan D, Chen F, Jaeger E, Moshrefi A, Pham K, Stedman W, Liang T, Saghbini M, Dzakula Z, Hastie A, Cao H, Deikus G, Schadt E et al. (2016)
    Extensive sequencing of seven human genomes to characterize benchmark reference materials
    Sci Data, 3, 160025
    DOI 10.1038/sdata.2016.25, PubMed 27271295

Publications 2015

  1. Abrahamsen BJ, Kulseth MA, Paus B (2015)
    A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular Ehlers-Danlos syndrome and a novel missense mutation in COL3A1
    Chest, 147 (5), e166-e170
    DOI 10.1378/chest.13-3002, PubMed 25940258
  2. Andreassen OA, Desikan RS, Wang Y, Thompson WK, Schork AJ, Zuber V, Doncheva NT, Ellinghaus E, Albrecht M, Mattingsdal M, Franke A, Lie BA, Mills IG, Aukrust P, McEvoy LK, Djurovic S, Karlsen TH, Dale AM (2015)
    Correction: Abundant Genetic Overlap between Blood Lipids and Immune-Mediated Diseases Indicates Shared Molecular Genetic Mechanisms
    PLoS One, 10 (5), e0128048
    DOI 10.1371/journal.pone.0128048, PubMed 25978331
  3. Andreassen OA, Thompson WK, Schork AJ, Ripke S, Mattingsdal M, Kelsoe JR, Kendler KS, O'Donovan MC, Rujescu D, Werge T, Sklar P, Psychiatric Genomics Consortium (PGC), Bipolar Disorder and Schizophrenia Working Groups, Roddey JC, Chen CH, McEvoy L, Desikan RS, Djurovic S, Dale AM (2015)
    Correction: Improved Detection of Common Variants Associated with Schizophrenia and Bipolar Disorder Using Pleiotropy-Informed Conditional False Discovery Rate
    PLoS Genet, 11 (11), e1005544
    DOI 10.1371/journal.pgen.1005544, PubMed 26540268
  4. Athanasiu L, Smorr LL, Tesli M, Røssberg JI, Sønderby IE, Spigset O, Djurovic S, Andreassen OA (2015)
    Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs
    J Psychopharmacol, 29 (8), 884-91
    DOI 10.1177/0269881115584469, PubMed 25944848
  5. Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL (2015)
    Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
    Am J Med Genet A, 167A (9), 2052-64
    DOI 10.1002/ajmg.a.37120, PubMed 26097203
  6. Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E (2015)
    A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
    Hum Mol Genet, 24 (20), 5845-54
    DOI 10.1093/hmg/ddv305, PubMed 26220973
  7. Borsting J, Culen AL, Eike MC (2015)
    DESIGN OF A REFERENCE HANDLING SYSTEM FOR CLINICAL DNA SEQUENCING ANALYSIS
    PROCEEDINGS OF THE INTERNATIONAL CONFERENCES ON E-HEALTH 2015 E-COMMERCE AND DIGITAL MARKETING 2015 AND INFORMATION SYSTEMS POST-IMPLEMENTATION AND CHANGE MANAGEMENT 2015, 79-87
  8. Broch K, Andreassen AK, Hopp E, Leren TP, Scott H, Müller F, Aakhus S, Gullestad L (2015)
    Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy
    Open Heart, 2 (1), e000271
    DOI 10.1136/openhrt-2015-000271, PubMed 26468400
  9. Carlsen EØ, Frengen E, Fannemel M, Misceo D (2015)
    Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay
    Am J Med Genet A, 167A (8), 1890-6
    DOI 10.1002/ajmg.a.37079, PubMed 25846056
  10. Chen CH, Peng Q, Schork AJ, Lo MT, Fan CC, Wang Y, Desikan RS, Bettella F, Hagler DJ, Pediatric Imaging, Neurocognition and Genetics Study, Alzheimer’s Disease Neuroimaging Initiative, Westlye LT, Kremen WS, Jernigan TL, Le Hellard S, Steen VM, Espeseth T, Huentelman M, Håberg AK, Agartz I, Djurovic S, Andreassen OA, Schork N, Dale AM, Pediatric Imaging Neurocognition and Genetics Study et al. (2015)
    Large-scale genomics unveil polygenic architecture of human cortical surface area
    Nat Commun, 6, 7549
    DOI 10.1038/ncomms8549, PubMed 26189703
  11. Chiaroni-Clarke RC, Li YR, Munro JE, Chavez RA, Scurrah KJ, Pezic A, Akikusa JD, Allen RC, Piper SE, Becker ML, Thompson SD, Lie BA, Flato B, Forre O, Punaro M, Wise C, Saffery R, Finkel TH, Hakonarson H, Ponsonby AL, Ellis JA (2015)
    The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females
    Genes Immun, 16 (7), 495-8
    DOI 10.1038/gene.2015.32, PubMed 26291515
  12. Chollet ME, Skarpen E, Iversen N, Sandset PM, Skretting G (2015)
    The chemical chaperone sodium 4-phenylbutyrate improves the secretion of the protein CA267T mutant in CHO-K1 cells trough the GRASP55 pathway
    Cell Biosci, 5, 57
    DOI 10.1186/s13578-015-0048-4, PubMed 26457178
  13. Cortes A, Pulit SL, Leo PJ, Pointon JJ, Robinson PC, Weisman MH, Ward M, Gensler LS, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Haroon N, Mulero J et al. (2015)
    Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1
    Nat Commun, 6, 7146
    DOI 10.1038/ncomms8146, PubMed 25994336
  14. Dahm AE, Tiscia G, Holmgren A, Jacobsen AF, Skretting G, Grandone E, Sandset PM (2015)
    Genetic variations in the annexin A5 gene and the risk of pregnancy-related venous thrombosis
    J Thromb Haemost, 13 (3), 409-13
    DOI 10.1111/jth.12817, PubMed 25495894
  15. Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CM, Carneiro-Sampaio M, Devlin LA, Edgar JD, Henderson P, Russell RK et al. (2015)
    The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
    J Clin Immunol, 36 (1), 73-84
    DOI 10.1007/s10875-015-0214-9, PubMed 26604104
  16. Desikan RS, Schork AJ, Wang Y, Thompson WK, Dehghan A, Ridker PM, Chasman DI, McEvoy LK, Holland D, Chen CH, Karow DS, Brewer JB, Hess CP, Williams J, Sims R, O'Donovan MC, Choi SH, Bis JC, Ikram MA, Gudnason V, DeStefano AL, van der Lee SJ, Psaty BM, van Duijn CM, Launer L et al. (2015)
    Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease
    Circulation, 131 (23), 2061-2069
    DOI 10.1161/CIRCULATIONAHA.115.015489, PubMed 25862742
  17. Dørum G, Kling D, Tillmar A, Vigeland MD, Egeland T (2015)
    Mixtures with relatives and linked markers
    Int J Legal Med, 130 (3), 621-34
    DOI 10.1007/s00414-015-1288-x, PubMed 26614310
  18. Fjaer R, Brodtkorb E, Øye AM, Sheng Y, Vigeland MD, Kvistad KA, Backe PH, Selmer KK (2015)
    Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2
    Eur J Med Genet, 58 (11), 624-8
    DOI 10.1016/j.ejmg.2015.10.005, PubMed 26475232
  19. Goulart LF, Bettella F, Sønderby IE, Schork AJ, Thompson WK, Mattingsdal M, Steen VM, Zuber V, Wang Y, Dale AM, PRACTICAL/ELLIPSE consortium, Andreassen OA, Djurovic S (2015)
    MicroRNAs enrichment in GWAS of complex human phenotypes
    BMC Genomics, 16, 304
    DOI 10.1186/s12864-015-1513-5, PubMed 25884492
  20. Gronwald J, Glass K, Rosen B, Karlan B, Tung N, Neuhausen SL, Moller P, Ainsworth P, Sun P, Narod SA, Lubinski J, Kotsopoulos J, Hereditary Breast Cancer Clinical Study Group (2015)
    Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation
    Fertil Steril, 105 (3), 781-785
    DOI 10.1016/j.fertnstert.2015.11.034, PubMed 26698676
  21. Han N, Adams J, Fang W, Liu SQ, Rayner S (2015)
    Investigation of the genotype III to genotype I shift in Japanese encephalitis virus and the impact on human cases
    Virol Sin, 30 (4), 277-89
    DOI 10.1007/s12250-015-3621-4, PubMed 26311492
  22. Haram M, Tesli M, Bettella F, Djurovic S, Andreassen OA, Melle I (2015)
    Association between Genetic Variation in the Oxytocin Receptor Gene and Emotional Withdrawal, but not between Oxytocin Pathway Genes and Diagnosis in Psychotic Disorders
    Front Hum Neurosci, 9, 9
    DOI 10.3389/fnhum.2015.00009, PubMed 25667571
  23. Hassani S, Lindman AS, Kristoffersen DT, Tomic O, Helgeland J (2015)
    30-Day Survival Probabilities as a Quality Indicator for Norwegian Hospitals: Data Management and Analysis
    PLoS One, 10 (9), e0136547
    DOI 10.1371/journal.pone.0136547, PubMed 26352600
  24. Heimdal K, Dalhus B, Rødningen OK, Kroken M, Eiklid K, Dheyauldeen S, Røysland T, Andersen R, Kulseth MA (2015)
    Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1
    Clin Genet, 89 (2), 182-6
    DOI 10.1111/cge.12612, PubMed 25970827
  25. Heramb C, Ekstrøm PO, Tharmaratnam K, Hovig E, Møller P, Mæhle L (2015)
    Ten modifiers of BRCA1 penetrance validated in a Norwegian series
    Hered Cancer Clin Pract, 13 (1), 14
    DOI 10.1186/s13053-015-0035-0, PubMed 26052370
  26. Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, Bralten J, Brown AA, Chakravarty MM, Chen Q, Ching CR, Cuellar-Partida G, den Braber A, Giddaluru S, Goldman AL, Grimm O et al. (2015)
    Common genetic variants influence human subcortical brain structures
    Nature, 520 (7546), 224-9
    DOI 10.1038/nature14101, PubMed 25607358
  27. Hoeffding LK, Duong LT, Ingason A, Rosengren A, Sorbanski E, Witt SH, Djurovic S, Andreassen OA, Hansen T, Werge T, Rasmussen HB (2015)
    Identification of rare high-risk copy number variants affecting the dopamine transporter gene in mental disorders
    Nord J Psychiatry, 70 (4), 276-9
    DOI 10.3109/08039488.2015.1095944, PubMed 26559242
  28. Hopkins PN, Defesche J, Fouchier SW, Bruckert E, Luc G, Cariou B, Sjouke B, Leren TP, Harada-Shiba M, Mabuchi H, Rabès JP, Carrié A, van Heyningen C, Carreau V, Farnier M, Teoh YP, Bourbon M, Kawashiri MA, Nohara A, Soran H, Marais AD, Tada H, Abifadel M, Boileau C, Chanu B et al. (2015)
    Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
    Circ Cardiovasc Genet, 8 (6), 823-31
    DOI 10.1161/CIRCGENETICS.115.001129, PubMed 26374825
  29. Horn D, Prescott T, Houge G, Brække K, Rosendahl K, Nishimura G, FitzPatrick DR, Spranger J (2015)
    A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
    Eur J Med Genet, 58 (8), 387-91
    DOI 10.1016/j.ejmg.2015.06.003, PubMed 26116559
  30. Horn MA, Mikaelsen KB, Ferdinandusse S, Jørum E, Mellgren SI, Retterstøl L, Wanders RJ, Tallaksen CM (2015)
    Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report
    Clin Case Rep, 4 (2), 177-81
    DOI 10.1002/ccr3.434, PubMed 26862418
  31. Hov JR, Zhong H, Qin B, Anmarkrud JA, Holm K, Franke A, Lie BA, Karlsen TH (2015)
    The Influence of the Autoimmunity-Associated Ancestral HLA Haplotype AH8.1 on the Human Gut Microbiota: A Cross-Sectional Study
    PLoS One, 10 (7), e0133804
    DOI 10.1371/journal.pone.0133804, PubMed 26207384
  32. Howrigan DP, Simonson MA, Davies G, Harris SE, Tenesa A, Starr JM, Liewald DC, Deary IJ, McRae A, Wright MJ, Montgomery GW, Hansell N, Martin NG, Payton A, Horan M, Ollier WE, Abdellaoui A, Boomsma DI, DeRosse P, Knowles EE, Glahn DC, Djurovic S, Melle I, Andreassen OA, Christoforou A et al. (2015)
    Genome-wide autozygosity is associated with lower general cognitive ability
    Mol Psychiatry, 21 (6), 837-43
    DOI 10.1038/mp.2015.120, PubMed 26390830
  33. Hughes T, Hansson L, Sønderby IE, Athanasiu L, Zuber V, Tesli M, Song J, Hultman CM, Bergen SE, Landén M, Melle I, Andreassen OA, Djurovic S (2015)
    A Loss-of-Function Variant in a Minor Isoform of ANK3 Protects Against Bipolar Disorder and Schizophrenia
    Biol Psychiatry, 80 (4), 323-330
    DOI 10.1016/j.biopsych.2015.09.021, PubMed 26682468
  34. Johansson MM, Van Geystelen A, Larmuseau MH, Djurovic S, Andreassen OA, Agartz I, Jazin E (2015)
    Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific Haplogroups
    PLoS One, 10 (8), e0137223
    DOI 10.1371/journal.pone.0137223, PubMed 26322892
  35. Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K (2015)
    Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
    PLoS One, 10 (8), e0136011
    DOI 10.1371/journal.pone.0136011, PubMed 26270546
  36. Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K (2015)
    A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
    PLoS One, 10 (7), e0131637
    DOI 10.1371/journal.pone.0131637, PubMed 26154504
  37. Lee SH, Byrne EM, Hultman CM, Kähler A, Vinkhuyzen AA, Ripke S, Andreassen OA, Frisell T, Gusev A, Hu X, Karlsson R, Mantzioris VX, McGrath JJ, Mehta D, Stahl EA, Zhao Q, Kendler KS, Sullivan PF, Price AL, O'Donovan M, Okada Y, Mowry BJ, Raychaudhuri S, Wray NR, Schizophrenia Working Group of the Psychiatric Genomics Consortium and Rheumatoid Arthritis Consortium International et al. (2015)
    New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis
    Int J Epidemiol, 44 (5), 1706-21
    DOI 10.1093/ije/dyv136, PubMed 26286434
  38. Lekva T, Berg JP, Lyle R, Heck A, Bollerslev J, Ueland T (2015)
    Alternative splicing of placental lactogen (CSH2) in somatotroph pituitary adenomas
    Neuro Endocrinol Lett, 36 (2), 136-42
    PubMed 26071582
  39. Liaskou E, Klemsdal Henriksen EK, Holm K, Kaveh F, Hamm D, Fear J, Viken MK, Hov JR, Melum E, Robins H, Olweus J, Karlsen TH, Hirschfield GM (2015)
    High-throughput T-cell receptor sequencing across chronic liver diseases reveals distinct disease-associated repertoires
    Hepatology, 63 (5), 1608-19
    DOI 10.1002/hep.28116, PubMed 26257205
  40. Magnussen GI, Emilsen E, Giller Fleten K, Engesæter B, Nähse-Kumpf V, Fjær R, Slipicevic A, Flørenes VA (2015)
    Combined inhibition of the cell cycle related proteins Wee1 and Chk1/2 induces synergistic anti-cancer effect in melanoma
    BMC Cancer, 15, 462
    DOI 10.1186/s12885-015-1474-8, PubMed 26054341
  41. McMaster ML, Heimdal KR, Loud JT, Bracci JS, Rosenberg PS, Greene MH (2015)
    Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families
    Cancer Med, 4 (7), 1069-78
    DOI 10.1002/cam4.450, PubMed 25882629
  42. Mellerup E, Andreassen OA, Bennike B, Dam H, Djurovic S, Hansen T, Jorgensen MB, Kessing LV, Koefoed P, Melle I, Mors O, Werge T, Moeller GL (2015)
    Combinations of Genetic Data Present in Bipolar Patients, but Absent in Control Persons
    PLoS One, 10 (11), e0143432
    DOI 10.1371/journal.pone.0143432, PubMed 26587987
  43. Møller P, Seppälä T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Green K, Lalloo F, Sunde L, Mints M, Bertario L et al. (2015)
    Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
    Gut, 66 (3), 464-472
    DOI 10.1136/gutjnl-2015-309675, PubMed 26657901
  44. Møller P, Tharmaratnam K, Howell A, Stavrinos P, Sampson S, Wallace A, Maxwell AJ, Hagen AI, Evans DG (2015)
    Tumour characteristics and survival in familial breast cancer prospectively diagnosed by annual mammography
    Breast Cancer Res Treat, 152 (1), 87-94
    DOI 10.1007/s10549-015-3448-6, PubMed 26037256
  45. Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium (2015)
    Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
    Nat Neurosci, 18 (2), 199-209
    DOI 10.1038/nn.3922, PubMed 25599223
  46. Nordstrøm M, Paus B, Andersen LF, Kolset SO (2015)
    Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader-Willi syndrome
    Food Nutr Res, 59, 25487
    DOI 10.3402/fnr.v59.25487, PubMed 25653019
  47. Ollikainen M, Ismail K, Gervin K, Kyllönen A, Hakkarainen A, Lundbom J, Järvinen EA, Harris JR, Lundbom N, Rissanen A, Lyle R, Pietiläinen KH, Kaprio J (2015)
    Genome-wide blood DNA methylation alterations at regulatory elements and heterochromatic regions in monozygotic twins discordant for obesity and liver fat
    Clin Epigenetics, 7, 39
    DOI 10.1186/s13148-015-0073-5, PubMed 25866590
  48. Omair A, Mannion AF, Holden M, Fairbank J, Lie BA, Hägg O, Fritzell P, Brox JI (2015)
    Catechol-O-methyltransferase (COMT) gene polymorphisms are associated with baseline disability but not long-term treatment outcome in patients with chronic low back pain
    Eur Spine J, 24 (11), 2425-31
    DOI 10.1007/s00586-015-3866-5, PubMed 25772090
  49. Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D (2015)
    Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
    Am J Med Genet A, 167A (3), 657-63
    DOI 10.1002/ajmg.a.36944, PubMed 25691420
  50. Pietiläinen KH, Ismail K, Järvinen E, Heinonen S, Tummers M, Bollepalli S, Lyle R, Muniandy M, Moilanen E, Hakkarainen A, Lundbom J, Lundbom N, Rissanen A, Kaprio J, Ollikainen M (2015)
    DNA methylation and gene expression patterns in adipose tissue differ significantly within young adult monozygotic BMI-discordant twin pairs
    Int J Obes (Lond), 40 (4), 654-61
    DOI 10.1038/ijo.2015.221, PubMed 26499446
  51. Rasmussen HB, Bjerre D, Linnet K, Jürgens G, Dalhoff K, Stefansson H, Hankemeier T, Kaddurah-Daouk R, Taboureau O, Brunak S, Houmann T, Jeppesen P, Pagsberg AK, Plessen K, Dyrborg J, Hansen PR, Hansen PE, Hughes T, Werge T, INDICES Consortium (2015)
    Individualization of treatments with drugs metabolized by CES1: combining genetics and metabolomics
    Pharmacogenomics, 16 (6), 649-65
    DOI 10.2217/pgs.15.7, PubMed 25896426
  52. Reppe S, Noer A, Grimholt RM, Halldórsson BV, Medina-Gomez C, Gautvik VT, Olstad OK, Berg JP, Datta H, Estrada K, Hofman A, Uitterlinden AG, Rivadeneira F, Lyle R, Collas P, Gautvik KM (2015)
    Methylation of bone SOST, its mRNA, and serum sclerostin levels correlate strongly with fracture risk in postmenopausal women
    J Bone Miner Res, 30 (2), 249-56
    DOI 10.1002/jbmr.2342, PubMed 25155887
  53. Robinson PC, Costello ME, Leo P, Bradbury LA, Hollis K, Cortes A, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Elewaut D, Burgos-Vargas R, Gensler LS et al. (2015)
    ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients
    Ann Rheum Dis, 74 (8), 1627-9
    DOI 10.1136/annrheumdis-2015-207416, PubMed 25917849
  54. Rohlin A, Eiengård F, Lundstam U, Zagoras T, Nilsson S, Edsjö A, Pedersen J, Svensson J, Skullman S, Karlsson BG, Björk J, Nordling M (2015)
    GREM1 and POLE variants in hereditary colorectal cancer syndromes
    Genes Chromosomes Cancer, 55 (1), 95-106
    DOI 10.1002/gcc.22314, PubMed 26493165
  55. Rounge TB, Lauritzen M, Langseth H, Enerly E, Lyle R, Gislefoss RE (2015)
    microRNA Biomarker Discovery and High-Throughput DNA Sequencing Are Possible Using Long-term Archived Serum Samples
    Cancer Epidemiol Biomarkers Prev, 24 (9), 1381-7
    DOI 10.1158/1055-9965.EPI-15-0289, PubMed 26108462
  56. Segev Y, Rosen B, Lubinski J, Gronwald J, Lynch HT, Moller P, Kim-Sing C, Ghadirian P, Karlan B, Eng C, Gilchrist D, Neuhausen SL, Eisen A, Friedman E, Euhus D, Ping S, Narod SA, Hereditary Breast Cancer Study Group (2015)
    Risk factors for endometrial cancer among women with a BRCA1 or BRCA2 mutation: a case control study
    Fam Cancer, 14 (3), 383-91
    DOI 10.1007/s10689-015-9798-8, PubMed 25838159
  57. Seldin MF, Alkhairy OK, Lee AT, Lamb JA, Sussman J, Pirskanen-Matell R, Piehl F, Verschuuren JJGM, Kostera-Pruszczyk A, Szczudlik P, McKee D, Maniaol AH, Harbo HF, Lie BA, Melms A, Garchon HJ, Willcox N, Gregersen PK, Hammarstrom L (2015)
    Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations
    Mol Med, 21 (1), 769-781
    DOI 10.2119/molmed.2015.00232, PubMed 26562150
  58. Srinivasan S, Bettella F, Mattingsdal M, Wang Y, Witoelar A, Schork AJ, Thompson WK, Zuber V, Schizophrenia Working Group of the Psychiatric Genomics Consortium, The International Headache Genetics Consortium, Winsvold BS, Zwart JA, Collier DA, Desikan RS, Melle I, Werge T, Dale AM, Djurovic S, Andreassen OA (2015)
    Genetic Markers of Human Evolution Are Enriched in Schizophrenia
    Biol Psychiatry, 80 (4), 284-292
    DOI 10.1016/j.biopsych.2015.10.009, PubMed 26681495
  59. Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H, Sulem P, Magnusson OT, Gudjonsson SA, Unnsteinsdottir U, Kong A, Helisalmi S, Soininen H, Lah JJ, DemGene, Aarsland D, Fladby T, Ulstein ID, Djurovic S, Sando SB, White LR, Knudsen GP, Westlye LT, Selbæk G, Giegling I et al. (2015)
    Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease
    Nat Genet, 47 (5), 445-7
    DOI 10.1038/ng.3246, PubMed 25807283
  60. Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD, Care4Rare Canada Consortium, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Ren D, Yoon G (2015)
    Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
    Am J Hum Genet, 98 (1), 202-9
    DOI 10.1016/j.ajhg.2015.11.004, PubMed 26708751
  61. Suerink M, van der Klift HM, Ten Broeke SW, Dekkers OM, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp A, Moller P, van Os TA, Rahner N, Redeker BJ, Olderode-Berends MJ, Spruijt L, Vos YJ, Wagner A, Morreau H, Hes FJ, Vasen HF, Tops CM, Wijnen JT et al. (2015)
    The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
    Genet Med, 18 (4), 405-9
    DOI 10.1038/gim.2015.83, PubMed 26110232
  62. Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Bramswig NC, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M (2015)
    DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies
    Hum Mutat, 36 (11), 1112
    DOI 10.1002/humu.22830, PubMed 26457590
  63. Tesli M, Kauppi K, Bettella F, Brandt CL, Kaufmann T, Espeseth T, Mattingsdal M, Agartz I, Melle I, Djurovic S, Westlye LT, Andreassen OA (2015)
    Altered Brain Activation during Emotional Face Processing in Relation to Both Diagnosis and Polygenic Risk of Bipolar Disorder
    PLoS One, 10 (7), e0134202
    DOI 10.1371/journal.pone.0134202, PubMed 26222050
  64. Tinholt M, Stavik B, Louch W, Carlson CR, Sletten M, Ruf W, Skretting G, Sandset PM, Iversen N (2015)
    Syndecan-3 and TFPI colocalize on the surface of endothelial-, smooth muscle-, and cancer cells
    PLoS One, 10 (1), e0117404
    DOI 10.1371/journal.pone.0117404, PubMed 25617766
  65. Tinholt M, Vollan HK, Sahlberg KK, Jernström S, Kaveh F, Lingjærde OC, Kåresen R, Sauer T, Kristensen V, Børresen-Dale AL, Sandset PM, Iversen N (2015)
    Tumor expression, plasma levels and genetic polymorphisms of the coagulation inhibitor TFPI are associated with clinicopathological parameters and survival in breast cancer, in contrast to the coagulation initiator TF
    Breast Cancer Res, 17, 44
    DOI 10.1186/s13058-015-0548-5, PubMed 25882602
  66. Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B (2015)
    Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
    BMC Med Genet, 16, 113
    DOI 10.1186/s12881-015-0260-4, PubMed 26684006
  67. Trampush JW, Lencz T, Knowles E, Davies G, Guha S, Pe'er I, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, Mukherjee S, DeRosse P, Lundervold A, Steen VM, John M, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B et al. (2015)
    Independent evidence for an association between general cognitive ability and a genetic locus for educational attainment
    Am J Med Genet B Neuropsychiatr Genet, 168B (5), 363-73
    DOI 10.1002/ajmg.b.32319, PubMed 25951819
  68. Tricarico R, Cortellino S, Riccio A, Jagmohan-Changur S, Van der Klift H, Wijnen J, Turner D, Ventura A, Rovella V, Percesepe A, Lucci-Cordisco E, Radice P, Bertario L, Pedroni M, Ponz de Leon M, Mancuso P, Devarajan K, Cai KQ, Klein-Szanto AJ, Neri G, Møller P, Viel A, Genuardi M, Fodde R, Bellacosa A (2015)
    Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis
    Oncotarget, 6 (40), 42892-904
    DOI 10.18632/oncotarget.5740, PubMed 26503472
  69. Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T (2015)
    Syndromic X-linked intellectual disability segregating with a missense variant in RLIM
    Eur J Hum Genet, 23 (12), 1652-6
    DOI 10.1038/ejhg.2015.30, PubMed 25735484
  70. Undlien D, Lunde C (2015)
    [In Process Citation]
    Tidsskr Nor Laegeforen, 135 (19), 1728-30
    DOI 10.4045/tidsskr.15.0968, PubMed 26486666
  71. Wedding IM, Kroken M, Henriksen SP, Selmer KK, Fiskerstrand T, Knappskog PM, Berge T, Tallaksen CM (2015)
    Friedreich ataxia in Norway - an epidemiological, molecular and clinical study
    Orphanet J Rare Dis, 10, 108
    DOI 10.1186/s13023-015-0328-4, PubMed 26338206
  72. Willemsen G, Ward KJ, Bell CG, Christensen K, Bowden J, Dalgård C, Harris JR, Kaprio J, Lyle R, Magnusson PK, Mather KA, Ordoňana JR, Perez-Riquelme F, Pedersen NL, Pietiläinen KH, Sachdev PS, Boomsma DI, Spector T (2015)
    The Concordance and Heritability of Type 2 Diabetes in 34,166 Twin Pairs From International Twin Registers: The Discordant Twin (DISCOTWIN) Consortium
    Twin Res Hum Genet, 18 (6), 762-71
    DOI 10.1017/thg.2015.83, PubMed 26678054
  73. Wolff AS, Mitchell AL, Cordell HJ, Short A, Skinningsrud B, Ollier W, Badenhoop K, Meyer G, Falorni A, Kampe O, Undlien D, Pearce SH, Husebye ES (2015)
    CTLA-4 as a genetic determinant in autoimmune Addison's disease
    Genes Immun, 16 (6), 430-6
    DOI 10.1038/gene.2015.27, PubMed 26204230
  74. Zayats T, Athanasiu L, Sonderby I, Djurovic S, Westlye LT, Tamnes CK, Fladby T, Aase H, Zeiner P, Reichborn-Kjennerud T, Knappskog PM, Knudsen GP, Andreassen OA, Johansson S, Haavik J (2015)
    Genome-wide analysis of attention deficit hyperactivity disorder in Norway
    PLoS One, 10 (4), e0122501
    DOI 10.1371/journal.pone.0122501, PubMed 25875332
  75. Ørstavik KH (2015)
    [Mary Lyon and the hypothesis on X-chromosome inactivation]
    Tidsskr Nor Laegeforen, 135 (12-13), 1150-1
    DOI 10.4045/tidsskr.15.0512, PubMed 26130551

Publications 2014

  1. Ali HO, Stavik B, Dørum E, Iversen N, Sandset PM, Skretting G (2014)
    Oestrogen induced downregulation of TFPI expression is mediated by ERα
    Thromb Res, 134 (1), 138-43
    DOI 10.1016/j.thromres.2014.04.004, PubMed 24785473
  2. Amundsen SS, Viken MK, Sollid LM, Lie BA (2014)
    Coeliac disease-associated polymorphisms influence thymic gene expression
    Genes Immun, 15 (6), 355-60
    DOI 10.1038/gene.2014.26, PubMed 24871462
  3. Andreassen OA, Harbo HF, Wang Y, Thompson WK, Schork AJ, Mattingsdal M, Zuber V, Bettella F, Ripke S, Kelsoe JR, Kendler KS, O'Donovan MC, Sklar P, Psychiatric Genomics Consortium (PGC) Bipolar Disorder and Schizophrenia Work Groups, International Multiple Sclerosis Genetics Consortium (IMSGC), McEvoy LK, Desikan RS, Lie BA, Djurovic S, Dale AM (2014)
    Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci
    Mol Psychiatry, 20 (2), 207-14
    DOI 10.1038/mp.2013.195, PubMed 24468824
  4. Andreassen OA, Zuber V, Thompson WK, Schork AJ, Bettella F, PRACTICAL Consortium, CRUK GWAS, Djurovic S, Desikan RS, Mills IG, Dale AM (2014)
    Shared common variants in prostate cancer and blood lipids
    Int J Epidemiol, 43 (4), 1205-14
    DOI 10.1093/ije/dyu090, PubMed 24786909
  5. Apelland T, Gude E, Strøm EH, Gullestad L, Eiklid KL, Månsson JE, Reinholt FP, Houge G, Dahl CP, Almaas VM, Heiberg A (2014)
    Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease
    Heart, 100 (22), 1793-8
    DOI 10.1136/heartjnl-2014-305616, PubMed 25031264
  6. Askautrud HA, Gjernes E, Gunnes G, Sletten M, Ross DT, Børresen-Dale AL, Iversen N, Tranulis MA, Frengen E (2014)
    Global gene expression analysis reveals a link between NDRG1 and vesicle transport
    PLoS One, 9 (1), e87268
    DOI 10.1371/journal.pone.0087268, PubMed 24498060
  7. Avidan N, Le Panse R, Harbo HF, Bernasconi P, Poulas K, Ginzburg E, Cavalcante P, Colleoni L, Baggi F, Antozzi C, Truffault F, Horn-Saban S, Pöschel S, Zagoriti Z, Maniaol A, Lie BA, Bernard I, Saoudi A, Illes Z, Casasnovas Pons C, Melms A, Tzartos S, Willcox N, Kostera-Pruszczyk A, Tallaksen C et al. (2014)
    VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis
    Ann Clin Transl Neurol, 1 (5), 329-39
    DOI 10.1002/acn3.51, PubMed 25356403
  8. Bancroft EK, Page EC, Castro E, Lilja H, Vickers A, Sjoberg D, Assel M, Foster CS, Mitchell G, Drew K, Mæhle L, Axcrona K, Evans DG, Bulman B, Eccles D, McBride D, van Asperen C, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Selkirk C, Hulick PJ, Bojesen A et al. (2014)
    Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study
    Eur Urol, 66 (3), 489-99
    DOI 10.1016/j.eururo.2014.01.003, PubMed 24484606
  9. Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S (2014)
    A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
    Am J Med Genet A, 164A (5), 1277-83
    DOI 10.1002/ajmg.a.36439, PubMed 24664804
  10. Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A (2014)
    Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray
    Clin Exp Immunol, 178 (3), 459-69
    DOI 10.1111/cei.12421, PubMed 25046553
  11. Belengeanu V, Gamage TH, Farcas S, Stoian M, Andreescu N, Belengeanu A, Frengen E, Misceo D (2014)
    A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl
    Gene, 539 (1), 168-72
    DOI 10.1016/j.gene.2014.01.060, PubMed 24508274
  12. Berge KE, Retterstøl K, Romeo S, Pirazzi C, Leren TP (2014)
    Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene
    Atherosclerosis, 234 (1), 30-3
    DOI 10.1016/j.atherosclerosis.2014.02.005, PubMed 24589565
  13. Brønstad I, Skinningsrud B, Bratland E, Løvås K, Undlien D, Sverre Husebye E, Wolff AS (2014)
    CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles
    Eur J Endocrinol, 171 (6), 743-50
    DOI 10.1530/EJE-14-0432, PubMed 25249698
  14. Cameron J (2014)
    New dentist spotlight: Dr. Jamie Cameron
    J Okla Dent Assoc, 105 (1), 27
    PubMed 24624747
  15. Christiansen M, Hedley PL, Theilade J, Stoevring B, Leren TP, Eschen O, Sørensen KM, Tybjærg-Hansen A, Ousager LB, Pedersen LN, Frikke-Schmidt R, Aidt FH, Hansen MG, Hansen J, Bloch Thomsen PE, Toft E, Henriksen FL, Bundgaard H, Jensen HK, Kanters JK (2014)
    Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2
    BMC Med Genet, 15, 31
    DOI 10.1186/1471-2350-15-31, PubMed 24606995
  16. Dieset I, Haukvik UK, Melle I, Røssberg JI, Ueland T, Hope S, Dale AM, Djurovic S, Aukrust P, Agartz I, Andreassen OA (2014)
    Association between altered brain morphology and elevated peripheral endothelial markers--implications for psychotic disorders
    Schizophr Res, 161 (2-3), 222-8
    DOI 10.1016/j.schres.2014.11.006, PubMed 25433965
  17. Drolsum L, Rand-Hendriksen S, Paus B, Geiran OR, Semb SO (2014)
    Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome
    Acta Ophthalmol, 93 (1), 46-53
    DOI 10.1111/aos.12448, PubMed 24853997
  18. Egeland T, Dørum G, Vigeland MD, Sheehan NA (2014)
    Mixtures with relatives: a pedigree perspective
    Forensic Sci Int Genet, 10, 49-54
    DOI 10.1016/j.fsigen.2014.01.007, PubMed 24572837
  19. Fagerlund A, Myrset AH, Kulseth MA (2014)
    Construction of a filamentous phage display peptide library
    Methods Mol Biol, 1088, 19-33
    DOI 10.1007/978-1-62703-673-3_2, PubMed 24146394
  20. Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D (2014)
    Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms
    Eur J Med Genet, 57 (9), 513-9
    DOI 10.1016/j.ejmg.2014.05.008, PubMed 24911659
  21. Flåm ST, Gunnarsson R, Garen T, Norwegian MCTD Study Group, Lie BA, Molberg Ø (2014)
    The HLA profiles of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases
    Rheumatology (Oxford), 54 (3), 528-35
    DOI 10.1093/rheumatology/keu310, PubMed 25187641
  22. Geirdal AØ, Lund-Petersen I, Heiberg A (2014)
    Understanding the experience of myotonic dystrophy. Mixed method study
    J Genet Couns, 24 (1), 169-78
    DOI 10.1007/s10897-014-9752-1, PubMed 25123360
  23. Giannakeas V, Lubinski J, Gronwald J, Moller P, Armel S, Lynch HT, Foulkes WD, Kim-Sing C, Singer C, Neuhausen SL, Friedman E, Tung N, Senter L, Sun P, Narod SA (2014)
    Mammography screening and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a prospective study
    Breast Cancer Res Treat, 147 (1), 113-8
    DOI 10.1007/s10549-014-3063-y, PubMed 25082516
  24. Grindedal EM, Aarset H, Bjørnevoll I, Røyset E, Mæhle L, Stormorken A, Heramb C, Medvik H, Møller P, Sjursen W (2014)
    The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry
    Hered Cancer Clin Pract, 12 (1), 12
    DOI 10.1186/1897-4287-12-12, PubMed 24790682
  25. Gronwald J, Robidoux A, Kim-Sing C, Tung N, Lynch HT, Foulkes WD, Manoukian S, Ainsworth P, Neuhausen SL, Demsky R, Eisen A, Singer CF, Saal H, Senter L, Eng C, Weitzel J, Moller P, Gilchrist DM, Olopade O, Ginsburg O, Sun P, Huzarski T, Lubinski J, Narod SA, Hereditary Breast Cancer Clinical Study Group (2014)
    Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers
    Breast Cancer Res Treat, 146 (2), 421-7
    DOI 10.1007/s10549-014-3026-3, PubMed 24951267
  26. Gustavsen MW, Celius EG, Moen SM, Bjølgerud A, Berg-Hansen P, Nygaard GO, Sandvik L, Lie BA, Harbo HF (2014)
    No association between multiple sclerosis and periodontitis after adjusting for smoking habits
    Eur J Neurol, 22 (3), 588-90
    DOI 10.1111/ene.12520, PubMed 25041906
  27. Gustavsen MW, Page CM, Moen SM, Bjølgerud A, Berg-Hansen P, Nygaard GO, Sandvik L, Lie BA, Celius EG, Harbo HF (2014)
    Environmental exposures and the risk of multiple sclerosis investigated in a Norwegian case-control study
    BMC Neurol, 14, 196
    DOI 10.1186/s12883-014-0196-x, PubMed 25274070
  28. Gustavsen MW, Viken MK, Celius EG, Berge T, Mero IL, Berg-Hansen P, Aarseth JH, Myhr KM, Søndergaard HB, Sellebjerg F, Oturai AB, Hillert J, Alfredsson L, Olsson T, Kockum I, Lie BA, Harbo HF (2014)
    Oligoclonal band phenotypes in MS differ in their HLA class II association, while specific KIR ligands at HLA class I show association to MS in general
    J Neuroimmunol, 274 (1-2), 174-9
    DOI 10.1016/j.jneuroim.2014.06.024, PubMed 25037176
  29. Haram M, Tesli M, Dieset I, Steen NE, Røssberg JI, Djurovic S, Andreassen OA, Melle I (2014)
    An attempt to identify single nucleotide polymorphisms contributing to possible relationships between personality traits and oxytocin-related genes
    Neuropsychobiology, 69 (1), 25-30
    DOI 10.1159/000356965, PubMed 24458227
  30. Heiberg A, Frich J, Røttingen JA (2014)
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    Tidsskr Nor Laegeforen, 134 (8), 809-10
    DOI 10.4045/tidsskr.14.0451, PubMed 24780961
  31. Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S (2014)
    STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
    Orphanet J Rare Dis, 9, 146
    DOI 10.1186/s13023-014-0146-0, PubMed 25258038
  32. Horn MA, Retterstøl L, Abdelnoor M, Skjeldal OH, Tallaksen CM (2014)
    Age-dependent penetrance among females with X-linked adrenoleukodystrophy
    Brain, 138 (Pt 2), e325
    DOI 10.1093/brain/awu232, PubMed 25149409
  33. Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G (2014)
    Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability
    Am J Med Genet A, 164A (7), 1622-6
    DOI 10.1002/ajmg.a.36498, PubMed 24678003
  34. Kauppi K, Westlye LT, Tesli M, Bettella F, Brandt CL, Mattingsdal M, Ueland T, Espeseth T, Agartz I, Melle I, Djurovic S, Andreassen OA (2014)
    Polygenic risk for schizophrenia associated with working memory-related prefrontal brain activation in patients with schizophrenia and healthy controls
    Schizophr Bull, 41 (3), 736-43
    DOI 10.1093/schbul/sbu152, PubMed 25392519
  35. Kotsopoulos J, Lubinski J, Gronwald J, Cybulski C, Demsky R, Neuhausen SL, Kim-Sing C, Tung N, Friedman S, Senter L, Weitzel J, Karlan B, Moller P, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study Group (2014)
    Factors influencing ovulation and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
    Int J Cancer, 137 (5), 1136-46
    DOI 10.1002/ijc.29386, PubMed 25482078
  36. Kotsopoulos J, Lubinski J, Moller P, Lynch HT, Singer CF, Eng C, Neuhausen SL, Karlan B, Kim-Sing C, Huzarski T, Gronwald J, McCuaig J, Senter L, Tung N, Ghadirian P, Eisen A, Gilchrist D, Blum JL, Zakalik D, Pal T, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study Group (2014)
    Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers
    Breast Cancer Res Treat, 143 (3), 579-86
    DOI 10.1007/s10549-013-2823-4, PubMed 24458845
  37. Krogvold L, Edwin B, Buanes T, Frisk G, Skog O, Anagandula M, Korsgren O, Undlien D, Eike MC, Richardson SJ, Leete P, Morgan NG, Oikarinen S, Oikarinen M, Laiho JE, Hyöty H, Ludvigsson J, Hanssen KF, Dahl-Jørgensen K (2014)
    Detection of a low-grade enteroviral infection in the islets of langerhans of living patients newly diagnosed with type 1 diabetes
    Diabetes, 64 (5), 1682-7
    DOI 10.2337/db14-1370, PubMed 25422108
  38. Kulseth MA, Fagerlund A, Myrset AH (2014)
    Affinity selection using filamentous phage display
    Methods Mol Biol, 1088, 67-80
    DOI 10.1007/978-1-62703-673-3_5, PubMed 24146397
  39. Kverneland M, Taubøll E, Selmer KK, Iversen PO, Nakken KO (2014)
    Modified Atkins diet may reduce serum concentrations of antiepileptic drugs
    Acta Neurol Scand, 131 (3), 187-90
    DOI 10.1111/ane.12330, PubMed 25312999
  40. Leren TP (2014)
    Sorting an LDL receptor with bound PCSK9 to intracellular degradation
    Atherosclerosis, 237 (1), 76-81
    DOI 10.1016/j.atherosclerosis.2014.08.038, PubMed 25222343
  41. Liu H, Han N, Fang W, Adams J, Zheng K, Li T, Hu Z, Rayner S (2014)
    The limited number of available nucleotide and protein sequence data from the recent H7N9 cases in China impeded investigation and characterization of the outbreak
    Virol Sin, 29 (2), 126-7
    DOI 10.1007/s12250-014-3394-1, PubMed 24664817
  42. Lund C, Bjørnvold M, Tuft M, Kostov H, Røsby O, Selmer KK (2014)
    Aicardi syndrome: an epidemiologic and clinical study in Norway
    Pediatr Neurol, 52 (2), 182-6.e3
    DOI 10.1016/j.pediatrneurol.2014.10.022, PubMed 25443581
  43. Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (2014)
    CHD2 mutations in Lennox-Gastaut syndrome
    Epilepsy Behav, 33, 18-21
    DOI 10.1016/j.yebeh.2014.02.005, PubMed 24614520
  44. Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP et al. (2014)
    The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients
    J Clin Endocrinol Metab, 99 (10), E2138-43
    DOI 10.1210/jc.2014-2110, PubMed 25077900
  45. Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP et al. (2014)
    Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
    Blood, 125 (4), 591-9
    DOI 10.1182/blood-2014-09-602763, PubMed 25359994
  46. Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjønnfjord GE, Frengen E (2014)
    A dominant STIM1 mutation causes Stormorken syndrome
    Hum Mutat, 35 (5), 556-64
    DOI 10.1002/humu.22544, PubMed 24619930
  47. Mitchell AL, Macarthur KD, Gan EH, Baggott LE, Wolff AS, Skinningsrud B, Platt H, Short A, Lobell A, Kämpe O, Bensing S, Betterle C, Kasperlik-Zaluska A, Zurawek M, Fichna M, Kockum I, Nordling Eriksson G, Ekwall O, Wahlberg J, Dahlqvist P, Hulting AL, Penna-Martinez M, Meyer G, Kahles H, Badenhoop K et al. (2014)
    Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European cohorts
    PLoS One, 9 (3), e88991
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  48. Moreno-Mayar JV, Rasmussen S, Seguin-Orlando A, Rasmussen M, Liang M, Flåm ST, Lie BA, Gilfillan GD, Nielsen R, Thorsby E, Willerslev E, Malaspinas AS (2014)
    Genome-wide ancestry patterns in Rapanui suggest pre-European admixture with Native Americans
    Curr Biol, 24 (21), 2518-25
    DOI 10.1016/j.cub.2014.09.057, PubMed 25447991
  49. Mundal L, Sarancic M, Ose L, Iversen PO, Borgan JK, Veierød MB, Leren TP, Retterstøl K (2014)
    Mortality among patients with familial hypercholesterolemia: a registry-based study in Norway, 1992-2010
    J Am Heart Assoc, 3 (6), e001236
    DOI 10.1161/JAHA.114.001236, PubMed 25468658
  50. Møller P, Stormorken A, Holmen MM, Hagen AI, Vabø A, Mæhle L (2014)
    The clinical utility of genetic testing in breast cancer kindreds: a prospective study in families without a demonstrable BRCA mutation
    Breast Cancer Res Treat, 144 (3), 607-14
    DOI 10.1007/s10549-014-2902-1, PubMed 24619173
  51. Naess S, Björnsson E, Anmarkrud JA, Al Mamari S, Juran BD, Lazaridis KN, Chapman R, Bergquist A, Melum E, Marsh SG, Schrumpf E, Lie BA, Boberg KM, Karlsen TH, Hov JR (2014)
    Small duct primary sclerosing cholangitis without inflammatory bowel disease is genetically different from large duct disease
    Liver Int, 34 (10), 1488-95
    DOI 10.1111/liv.12492, PubMed 24517468
  52. Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Møller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gómez García EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF (2014)
    Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome
    Fam Cancer, 13 (1), 57-63
    DOI 10.1007/s10689-013-9674-3, PubMed 23934601
  53. Næss S, Lie BA, Melum E, Olsson M, Hov JR, Croucher PJ, Hampe J, Thorsby E, Bergquist A, Traherne JA, Schrumpf E, Boberg KM, Schreiber S, Franke A, Karlsen TH (2014)
    Refinement of the MHC risk map in a scandinavian primary sclerosing cholangitis population
    PLoS One, 9 (12), e114486
    DOI 10.1371/journal.pone.0114486, PubMed 25521205
  54. Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A et al. (2014)
    Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations
    Am J Hum Genet, 94 (6), 915-23
    DOI 10.1016/j.ajhg.2014.05.005, PubMed 24906020
  55. Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK (2014)
    Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet
    Epilepsy Behav, 32, 76-8
    DOI 10.1016/j.yebeh.2014.01.003, PubMed 24508593
  56. Ramm-Pettersen A, Stabell KE, Nakken KO, Selmer KK (2014)
    Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study
    Epilepsy Behav, 39, 111-5
    DOI 10.1016/j.yebeh.2014.08.015, PubMed 25240122
  57. Rasmussen T, Yap SE, Stray-Pedersen B, Akselsen HE, McKinney PA, Rønningen KS (2014)
    HLA associated type 1 diabetes risk in children of Pakistani migrants to Norway
    Med Hypotheses, 83 (6), 664-7
    DOI 10.1016/j.mehy.2014.09.013, PubMed 25441839
  58. Rezwan FI, Poole RL, Prescott T, Walker JM, Karen Temple I, Mackay DJ (2014)
    Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b
    Eur J Hum Genet, 23 (4), 494-9
    DOI 10.1038/ejhg.2014.133, PubMed 25005734
  59. Samarakoon PS, Sorte HS, Kristiansen BE, Skodje T, Sheng Y, Tjønnfjord GE, Stadheim B, Stray-Pedersen A, Rødningen OK, Lyle R (2014)
    Identification of copy number variants from exome sequence data
    BMC Genomics, 15, 661
    DOI 10.1186/1471-2164-15-661, PubMed 25102989
  60. Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M (2014)
    Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome
    Hum Mutat, 35 (9), 1092-100
    DOI 10.1002/humu.22603, PubMed 24924640
  61. Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014)
    Biological insights from 108 schizophrenia-associated genetic loci
    Nature, 511 (7510), 421-7
    DOI 10.1038/nature13595, PubMed 25056061
  62. Siddiqui H, Lagesen K, Nederbragt AJ, Eri LM, Jeansson SL, Jakobsen KS (2014)
    Pathogens in Urine from a Female Patient with Overactive Bladder Syndrome Detected by Culture-independent High Throughput Sequencing: A Case Report
    Open Microbiol J, 8, 148-53
    DOI 10.2174/1874285801408010148, PubMed 25685246
  63. Smith MJ, Isidor B, Beetz C, Williams SG, Bhaskar SS, Richer W, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Fryer A, Rustad CF, Mills SJ, Samii A, du Plessis D, Halliday D, Barbarot S, Bourdeaut F, Newman WG, Evans DG (2014)
    Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
    Neurology, 84 (2), 141-7
    DOI 10.1212/WNL.0000000000001129, PubMed 25480913
  64. Song M, Tang Q, Rayner S, Tao XY, Li H, Guo ZY, Shen XX, Jiao WT, Fang W, Wang J, Liang GD (2014)
    Human rabies surveillance and control in China, 2005-2012
    BMC Infect Dis, 14, 212
    DOI 10.1186/1471-2334-14-212, PubMed 24742224
  65. Squadrito ML, Baer C, Burdet F, Maderna C, Gilfillan GD, Lyle R, Ibberson M, De Palma M (2014)
    Endogenous RNAs modulate microRNA sorting to exosomes and transfer to acceptor cells
    Cell Rep, 8 (5), 1432-46
    DOI 10.1016/j.celrep.2014.07.035, PubMed 25159140
  66. Star B, Nederbragt AJ, Hansen MH, Skage M, Gilfillan GD, Bradbury IR, Pampoulie C, Stenseth NC, Jakobsen KS, Jentoft S (2014)
    Palindromic sequence artifacts generated during next generation sequencing library preparation from historic and ancient DNA
    PLoS One, 9 (3), e89676
    DOI 10.1371/journal.pone.0089676, PubMed 24608104
  67. Stormo C, Kringen MK, Lyle R, Olstad OK, Sachse D, Berg JP, Piehler AP (2014)
    RNA-sequencing analysis of HepG2 cells treated with atorvastatin
    PLoS One, 9 (8), e105836
    DOI 10.1371/journal.pone.0105836, PubMed 25153832
  68. Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J et al. (2014)
    PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
    Am J Hum Genet, 95 (1), 96-107
    DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394
  69. Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM (2014)
    Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy
    J Clin Immunol, 34 (7), 871-90
    DOI 10.1007/s10875-014-0074-8, PubMed 25073507
  70. Strøm TB, Tveten K, Laerdahl JK, Leren TP (2014)
    Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum
    FEBS Open Bio, 4, 321-7
    DOI 10.1016/j.fob.2014.03.007, PubMed 24918045
  71. Strøm TB, Tveten K, Leren TP (2014)
    PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum
    Biochem J, 457 (1), 99-105
    DOI 10.1042/BJ20130930, PubMed 24144304
  72. Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Landais P, Posada M, Stefanov R, Steinmueller C, Swinnen E, Van Oyen H (2014)
    National registries of rare diseases in Europe: an overview of the current situation and experiences
    Public Health Genomics, 18 (1), 20-5
    DOI 10.1159/000365897, PubMed 25228300
  73. Tesli M, Espeseth T, Bettella F, Mattingsdal M, Aas M, Melle I, Djurovic S, Andreassen OA (2014)
    Polygenic risk score and the psychosis continuum model
    Acta Psychiatr Scand, 130 (4), 311-7
    DOI 10.1111/acps.12307, PubMed 24961959
  74. Tharmaratnam K, Hagen AI, Møller P (2014)
    MRI screening of women with hereditary predisposition to breast cancer: diagnostic performance and survival analysis
    Breast Cancer Res Treat, 148 (3), 687-8
    DOI 10.1007/s10549-014-3178-1, PubMed 25398653
  75. Thompson PM, Stein JL, Medland SE, Hibar DP, Vasquez AA, Renteria ME, Toro R, Jahanshad N, Schumann G, Franke B, Wright MJ, Martin NG, Agartz I, Alda M, Alhusaini S, Almasy L, Almeida J, Alpert K, Andreasen NC, Andreassen OA, Apostolova LG, Appel K, Armstrong NJ, Aribisala B, Bastin ME et al. (2014)
    The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data
    Brain Imaging Behav, 8 (2), 153-82
    DOI 10.1007/s11682-013-9269-5, PubMed 24399358
  76. Tinholt M, Viken MK, Dahm AE, Vollan HK, Sahlberg KK, Garred O, Børresen-Dale AL, Jacobsen AF, Kristensen V, Bukholm I, Kåresen R, Schlichting E, Skretting G, Lie BA, Sandset PM, Iversen N (2014)
    Increased coagulation activity and genetic polymorphisms in the F5, F10 and EPCR genes are associated with breast cancer: a case-control study
    BMC Cancer, 14, 845
    DOI 10.1186/1471-2407-14-845, PubMed 25407022
  77. Vetvik KK, Sonerud T, Lindeberg M, Lüders T, Størkson RH, Jonsdottir K, Frengen E, Pietiläinen KH, Bukholm I (2014)
    Globular adiponectin and its downstream target genes are up-regulated locally in human colorectal tumors: ex vivo and in vitro studies
    Metabolism, 63 (5), 672-81
    DOI 10.1016/j.metabol.2014.02.001, PubMed 24636346
  78. von der Lippe C, Roscher I, Nordgarden H, Rustad C, Larsen SM, Mjøen E, Bratland Å (2014)
    Man with macrocephaly, learning disability and multiple basal cell carcinomas
    Tidsskr Nor Laegeforen, 134 (11), 1151-4
    DOI 10.4045/tidsskr.13.0894, PubMed 24939783
  79. Walz K, Cohen D, Neilsen PM, Foster J, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M (2014)
    Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
    Hum Genet, 134 (2), 181-90
    DOI 10.1007/s00439-014-1509-2, PubMed 25413698
  80. Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C (2014)
    Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
    PLoS One, 9 (1), e86340
    DOI 10.1371/journal.pone.0086340, PubMed 24466038
  81. Weedon-Fekjær MS, Sheng Y, Sugulle M, Johnsen GM, Herse F, Redman CW, Lyle R, Dechend R, Staff AC (2014)
    Placental miR-1301 is dysregulated in early-onset preeclampsia and inversely correlated with maternal circulating leptin
    Placenta, 35 (9), 709-17
    DOI 10.1016/j.placenta.2014.07.002, PubMed 25064070
  82. Wirgenes KV, Tesli M, Inderhaug E, Athanasiu L, Agartz I, Melle I, Hughes T, Andreassen OA, Djurovic S (2014)
    ANK3 gene expression in bipolar disorder and schizophrenia
    Br J Psychiatry, 205 (3), 244-5
    DOI 10.1192/bjp.bp.114.145433, PubMed 24809399
  83. Xiao X, Sogge H, Lagesen K, Tooming-Klunderud A, Jakobsen KS, Rohrlack T (2014)
    Use of high throughput sequencing and light microscopy show contrasting results in a study of phytoplankton occurrence in a freshwater environment
    PLoS One, 9 (8), e106510
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  84. Yu F, Zhang G, Zhong X, Han N, Song Y, Zhao L, Cui M, Rayner S, Fu ZF (2014)
    Comparison of complete genome sequences of dog rabies viruses isolated from China and Mexico reveals key amino acid changes that may be associated with virus replication and virulence
    Arch Virol, 159 (7), 1593-601
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    Investigation of the genetic interaction between BDNF and DRD3 genes in suicidical behaviour in psychiatric disorders
    World J Biol Psychiatry, 16 (3), 171-9
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    Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies
    Mol Syndromol, 5 (2), 65-75
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    Interplay between childhood trauma and BDNF val66met variants on blood BDNF mRNA levels and on hippocampus subfields volumes in schizophrenia spectrum and bipolar disorders
    J Psychiatr Res, 59, 14-21
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Publications 2013

  1. Almaas VM, Haugaa KH, Strøm EH, Scott H, Dahl CP, Leren TP, Geiran OR, Endresen K, Edvardsen T, Aakhus S, Amlie JP (2013)
    Increased amount of interstitial fibrosis predicts ventricular arrhythmias, and is associated with reduced myocardial septal function in patients with obstructive hypertrophic cardiomyopathy
    Europace, 15 (9), 1319-27
    DOI 10.1093/europace/eut028, PubMed 23426552
  2. Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E (2013)
    Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
    Orphanet J Rare Dis, 8, 3
    DOI 10.1186/1750-1172-8-3, PubMed 23294540
  3. Berge KE, Leren TP (2013)
    Genetics of hypertrophic cardiomyopathy in Norway
    Clin Genet, 86 (4), 355-60
    DOI 10.1111/cge.12286, PubMed 24111713
  4. Bergmann O, Haukvik UK, Brown AA, Rimol LM, Hartberg CB, Athanasiu L, Melle I, Djurovic S, Andreassen OA, Dale AM, Agartz I (2013)
    ZNF804A and cortical thickness in schizophrenia and bipolar disorder
    Psychiatry Res, 212 (2), 154-7
    DOI 10.1016/j.pscychresns.2013.01.007, PubMed 23562677
  5. Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM et al. (2013)
    'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
    Brain, 136 (Pt 4), 1146-54
    DOI 10.1093/brain/awt021, PubMed 23449775
  6. Chen P, Gan Y, Han N, Fang W, Li J, Zhao F, Hu K, Rayner S (2013)
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  74. Yang CQ, Miao LF, Pan X, Wu CC, Rayner S, Mocarski ES, Ye HQ, Luo MH (2013)
    Natural antisense transcripts of UL123 packaged in human cytomegalovirus virions
    Arch Virol, 159 (1), 147-51
    DOI 10.1007/s00705-013-1793-5, PubMed 23884634
  75. Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB (2013)
    Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
    Eur J Hum Genet, 22 (4), 517-21
    DOI 10.1038/ejhg.2013.191, PubMed 24002164
  76. Ye Y, Wei B, Wen L, Rayner S (2013)
    BlastGraph: a comparative genomics tool based on BLAST and graph algorithms
    Bioinformatics, 29 (24), 3222-4
    DOI 10.1093/bioinformatics/btt553, PubMed 24068035
  77. Zhou Z, Deng F, Han N, Wang H, Sun S, Zhang Y, Hu Z, Rayner S (2013)
    Reassortment and migration analysis of Crimean-Congo haemorrhagic fever virus
    J Gen Virol, 94 (Pt 11), 2536-48
    DOI 10.1099/vir.0.056374-0, PubMed 23939975
  78. Ørstavik KH (2013)
    [Gene therapy--an eagerly awaited breakthrough]
    Tidsskr Nor Laegeforen, 133 (8), 823
    DOI 10.4045/tidsskr.13.0315, PubMed 23612087
  79. Ørstavik KH (2013)
    [Genetic self-tests]
    Tidsskr Nor Laegeforen, 133 (14), 1427
    DOI 10.4045/tidsskr.13.0812, PubMed 23929282
  80. Østertun Geirdal A, Øverland B, Heimdal K, Storhaug K, Asten P, Akre H (2013)
    Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome
    Eur Arch Otorhinolaryngol, 270 (11), 2879-84
    DOI 10.1007/s00405-013-2409-0, PubMed 23455582
  81. Aas M, Haukvik UK, Djurovic S, Bergmann Ø, Athanasiu L, Tesli MS, Hellvin T, Steen NE, Agartz I, Lorentzen S, Sundet K, Andreassen OA, Melle I (2013)
    BDNF val66met modulates the association between childhood trauma, cognitive and brain abnormalities in psychoses
    Prog Neuropsychopharmacol Biol Psychiatry, 46, 181-8
    DOI 10.1016/j.pnpbp.2013.07.008, PubMed 23876786

Publications 2012

  1. Abildgaard U, Heimdal K (2012)
    Pathogenesis of the syndrome of hemolysis, elevated liver enzymes, and low platelet count (HELLP): a review
    Eur J Obstet Gynecol Reprod Biol, 166 (2), 117-23
    DOI 10.1016/j.ejogrb.2012.09.026, PubMed 23107053
  2. Adams JT, Gray DJ, Rayner S (2012)
    Observation of non-principal plane neutral points in the upwelling polarized light field above a water surface
    Appl Opt, 51 (22), 5387-91
    DOI 10.1364/AO.51.005387, PubMed 22859026
  3. Bailey-Wilson JE, Childs EJ, Cropp CD, Schaid DJ, Xu J, Camp NJ, Cannon-Albright LA, Farnham JM, George A, Powell I, Carpten JD, Giles GG, Hopper JL, Severi G, English DR, Foulkes WD, Mæhle L, Møller P, Eeles R, Easton D, Guy M, Edwards S, Badzioch MD, Whittemore AS, Oakley-Girvan I et al. (2012)
    Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
    BMC Med Genet, 13, 46
    DOI 10.1186/1471-2350-13-46, PubMed 22712434
  4. Bakken TE, Roddey JC, Djurovic S, Akshoomoff N, Amaral DG, Bloss CS, Casey BJ, Chang L, Ernst TM, Gruen JR, Jernigan TL, Kaufmann WE, Kenet T, Kennedy DN, Kuperman JM, Murray SS, Sowell ER, Rimol LM, Mattingsdal M, Melle I, Agartz I, Andreassen OA, Schork NJ, Dale AM, Alzheimer's Disease Neuroimaging Initiative et al. (2012)
    Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans
    Proc Natl Acad Sci U S A, 109 (10), 3985-90
    DOI 10.1073/pnas.1105829109, PubMed 22343285
  5. Belengeanu D, Bratu C, Stoian M, Motoc A, Ormerod E, Podariu AC, Farcaş S, Andreescu N (2012)
    The heterogeneity of craniofacial morphology in Prader-Willi patients
    Rom J Morphol Embryol, 53 (3), 527-32
    PubMed 22990543
  6. Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U et al. (2012)
    Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability
    Hum Mutat, 34 (1), 237-47
    DOI 10.1002/humu.22224, PubMed 23033313
  7. Bjørnslett M, Knappskog S, Lønning PE, Dørum A (2012)
    Effect of the MDM2 promoter polymorphisms SNP309T>G and SNP285G>C on the risk of ovarian cancer in BRCA1 mutation carriers
    BMC Cancer, 12, 454
    DOI 10.1186/1471-2407-12-454, PubMed 23039163
  8. Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP (2012)
    Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
    Am J Med Genet A, 158A (11), 2719-25
    DOI 10.1002/ajmg.a.35447, PubMed 22821869
  9. Brown AA, Jensen J, Nikolova YS, Djurovic S, Agartz I, Server A, Ferrell RE, Manuck SB, Mattingsdal M, Melle I, Hariri AR, Frigessi A, Andreassen OA (2012)
    Genetic variants affecting the neural processing of human facial expressions: evidence using a genome-wide functional imaging approach
    Transl Psychiatry, 2, e143
    DOI 10.1038/tp.2012.67, PubMed 22828495
  10. Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ et al. (2012)
    Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
    Hum Mutat, 34 (1), 111-21
    DOI 10.1002/humu.22165, PubMed 22829427
  11. Cameron J, Bogsrud MP, Tveten K, Strøm TB, Holven K, Berge KE, Leren TP (2012)
    Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways
    Transl Res, 160 (2), 125-30
    DOI 10.1016/j.trsl.2012.01.010, PubMed 22683370
  12. Christoforou A, Dondrup M, Mattingsdal M, Mattheisen M, Giddaluru S, Nöthen MM, Rietschel M, Cichon S, Djurovic S, Andreassen OA, Jonassen I, Steen VM, Puntervoll P, Le Hellard S (2012)
    Linkage-disequilibrium-based binning affects the interpretation of GWASs
    Am J Hum Genet, 90 (4), 727-33
    DOI 10.1016/j.ajhg.2012.02.025, PubMed 22444669
  13. Colman JE, Lilleeng MS, Tsegaye D, Vigeland MD, Reimers E (2012)
    Responses of wild reindeer (Rangifer tarandus tarandus) when provoked by a snow-kiter or skier: A model approach
    Appl. Anim. Behav. Sci., 142 (1-2), 82-89
  14. Cortes J, Goldman JM, Hughes T (2012)
    Current issues in chronic myeloid leukemia: monitoring, resistance, and functional cure
    J Natl Compr Canc Netw, 10 Suppl 3, S1-S13
    PubMed 23055247
  15. Daha NA, Lie BA, Trouw LA, Stoeken G, Schonkeren JJ, Ding B, Kvien TK, Schilham MW, Padyukov L, Huizinga TW, Toes R (2012)
    Novel genetic association of the VTCN1 region with rheumatoid arthritis
    Ann Rheum Dis, 71 (4), 567-71
    DOI 10.1136/annrheumdis-2011-200574, PubMed 22323440
  16. Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y, Skovby F, Tsutsumi S et al. (2012)
    Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
    Hum Mutat, 33 (4), 665-73
    DOI 10.1002/humu.22012, PubMed 22190451
  17. Dheyauldeen S, Østertun Geirdal A, Osnes T, Vartdal LS, Dollner R (2012)
    Bevacizumab in hereditary hemorrhagic telangiectasia-associated epistaxis: effectiveness of an injection protocol based on the vascular anatomy of the nose
    Laryngoscope, 122 (6), 1210-4
    DOI 10.1002/lary.23303, PubMed 22565282
  18. Dieset I, Djurovic S, Tesli M, Hope S, Mattingsdal M, Michelsen A, Joa I, Larsen TK, Agartz I, Melle I, Røssberg JI, Aukrust P, Andreassen OA, Ueland T (2012)
    Up-regulation of NOTCH4 gene expression in bipolar disorder
    Am J Psychiatry, 169 (12), 1292-300
    DOI 10.1176/appi.ajp.2012.11091431, PubMed 23212060
  19. Duan Y, Miao L, Ye H, Yang C, Fu B, Schwartz PH, Rayner S, Fortunato EA, Luo MH (2012)
    A faster immunofluorescence assay for tracking infection progress of human cytomegalovirus
    Acta Biochim Biophys Sin (Shanghai), 44 (7), 597-605
    DOI 10.1093/abbs/gms041, PubMed 22659494
  20. Eike MC, Skinningsrud B, Ronninger M, Stormyr A, Kvien TK, Joner G, Njølstad PR, Førre O, Flatø B, Alfredsson L, Padyukov L, Undlien DE, Lie BA (2012)
    CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations
    Genes Immun, 13 (5), 431-6
    DOI 10.1038/gene.2012.11, PubMed 22513452
  21. Ersland KM, Christoforou A, Stansberg C, Espeseth T, Mattheisen M, Mattingsdal M, Hardarson GA, Hansen T, Fernandes CP, Giddaluru S, Breuer R, Strohmaier J, Djurovic S, Nöthen MM, Rietschel M, Lundervold AJ, Werge T, Cichon S, Andreassen OA, Reinvang I, Steen VM, Le Hellard S (2012)
    Gene-based analysis of regionally enriched cortical genes in GWAS data sets of cognitive traits and psychiatric disorders
    PLoS One, 7 (2), e31687
    DOI 10.1371/journal.pone.0031687, PubMed 22384057
  22. Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E (2012)
    A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
    Eur J Med Genet, 55 (12), 695-9
    DOI 10.1016/j.ejmg.2012.08.002, PubMed 22986108
  23. Forsberg LA, Rasi C, Razzaghian HR, Pakalapati G, Waite L, Thilbeault KS, Ronowicz A, Wineinger NE, Tiwari HK, Boomsma D, Westerman MP, Harris JR, Lyle R, Essand M, Eriksson F, Assimes TL, Iribarren C, Strachan E, O'Hanlon TP, Rider LG, Miller FW, Giedraitis V, Lannfelt L, Ingelsson M, Piotrowski A et al. (2012)
    Age-related somatic structural changes in the nuclear genome of human blood cells
    Am J Hum Genet, 90 (2), 217-28
    DOI 10.1016/j.ajhg.2011.12.009, PubMed 22305530
  24. Geirdal AØ, Dheyauldeen S, Bachmann-Harildstad G, Heimdal K (2012)
    Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study
    Am J Med Genet A, 158A (6), 1269-78
    DOI 10.1002/ajmg.a.35309, PubMed 22529055
  25. Geirdal AØ, Dheyauldeen S, Bachmann-Harildstad G, Heimdal K (2012)
    Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study
    Disabil Rehabil, 35 (3), 206-13
    DOI 10.3109/09638288.2012.690500, PubMed 22671535
  26. Gervin K, Vigeland MD, Mattingsdal M, Hammerø M, Nygård H, Olsen AO, Brandt I, Harris JR, Undlien DE, Lyle R (2012)
    DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes
    PLoS Genet, 8 (1), e1002454
    DOI 10.1371/journal.pgen.1002454, PubMed 22291603
  27. Gilfillan GD, Hughes T, Sheng Y, Hjorthaug HS, Straub T, Gervin K, Harris JR, Undlien DE, Lyle R (2012)
    Limitations and possibilities of low cell number ChIP-seq
    BMC Genomics, 13, 645
    DOI 10.1186/1471-2164-13-645, PubMed 23171294
  28. Hamfjord J, Stangeland AM, Hughes T, Skrede ML, Tveit KM, Ikdahl T, Kure EH (2012)
    Differential expression of miRNAs in colorectal cancer: comparison of paired tumor tissue and adjacent normal mucosa using high-throughput sequencing
    PLoS One, 7 (4), e34150
    DOI 10.1371/journal.pone.0034150, PubMed 22529906
  29. Hansen JS, Nygaard UC, Lyle R, Lovik M (2012)
    Early life interventions to prevent allergy in the offspring: the role of maternal immunization and postnatal mucosal allergen exposure
    Int Arch Allergy Immunol, 158 (3), 261-75
    DOI 10.1159/000332963, PubMed 22398405
  30. Harbo HF, Mero IL (2012)
    From genes to characteristics of multiple sclerosis
    Acta Neurol Scand Suppl (195), 76-83
    DOI 10.1111/ane.12027, PubMed 23278661
  31. Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM (2012)
    A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
    Hum Mol Genet, 21 (26), 5472-83
    DOI 10.1093/hmg/dds392, PubMed 23001565
  32. Hercus TR, Broughton SE, Ekert PG, Ramshaw HS, Perugini M, Grimbaldeston M, Woodcock JM, Thomas D, Pitson S, Hughes T, D'Andrea RJ, Parker MW, Lopez AF (2012)
    The GM-CSF receptor family: mechanism of activation and implications for disease
    Growth Factors, 30 (2), 63-75
    DOI 10.3109/08977194.2011.649919, PubMed 22257375
  33. Hou D, Zhang L, Deng F, Fang W, Wang R, Liu X, Guo L, Rayner S, Chen X, Wang H, Hu Z (2012)
    Comparative proteomics reveal fundamental structural and functional differences between the two progeny phenotypes of a baculovirus
    J Virol, 87 (2), 829-39
    DOI 10.1128/JVI.02329-12, PubMed 23115289
  34. Hu C, Xiong N, Zhang Y, Rayner S, Chen S (2012)
    Functional characterization of lipase in the pathogenesis of Staphylococcus aureus
    Biochem Biophys Res Commun, 419 (4), 617-20
    DOI 10.1016/j.bbrc.2012.02.057, PubMed 22369949
  35. Hu Y, Feng L, Li Y, Zhang Y, Lu P, Rayner S, Chen S (2012)
    Ribosomal binding site switching: an effective strategy for high-throughput cloning constructions
    PLoS One, 7 (11), e50142
    DOI 10.1371/journal.pone.0050142, PubMed 23185557
  36. Huanyu W, Haiyan W, Shihong F, Guifang L, Hong L, Xiaoyan G, Lizhi S, Rayner S, Aiqiang X, Guodong L (2012)
    Isolation and identification of a distinct strain of Culex Flavivirus from mosquitoes collected in Mainland China
    Virol J, 9, 73
    DOI 10.1186/1743-422X-9-73, PubMed 22452813
  37. Isaksen J, Bryn V, Diseth TH, Heiberg A, Schjølberg S, Skjeldal OH (2012)
    Children with autism spectrum disorders - the importance of medical investigations
    Eur J Paediatr Neurol, 17 (1), 68-76
    DOI 10.1016/j.ejpn.2012.08.004, PubMed 22954514
  38. Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H (2012)
    Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
    Am J Hum Genet, 91 (1), 73-82
    DOI 10.1016/j.ajhg.2012.05.003, PubMed 22726846
  39. Knappskog S, Gansmo LB, Romundstad P, Bjørnslett M, Trovik J, Sommerfelt-Pettersen J, Løkkevik E, Norwegian Breast Cancer Group trial NBCG VI, Tollenaar RA, Seynaeve C, Devilee P, Salvesen HB, Dørum A, Hveem K, Vatten L, Lønning PE (2012)
    MDM2 promoter SNP344T>A (rs1196333) status does not affect cancer risk
    PLoS One, 7 (4), e36263
    DOI 10.1371/journal.pone.0036263, PubMed 22558411
  40. Kähler AK, Rimol LM, Brown AA, Djurovic S, Hartberg CB, Melle I, Dale AM, Andreassen OA, Agartz I (2012)
    Effect of DISC1 SNPs on brain structure in healthy controls and patients with a history of psychosis
    Am J Med Genet B Neuropsychiatr Genet, 159B (6), 722-30
    DOI 10.1002/ajmg.b.32076, PubMed 22815203
  41. Larsen MK, Berge KE, Leren TP, Nissen PH, Hansen J, Kristensen IB, Banner J, Jensen HK (2012)
    Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases
    Int J Legal Med, 127 (1), 139-44
    DOI 10.1007/s00414-011-0658-2, PubMed 22222782
  42. Leidenroth A, Sorte HS, Gilfillan G, Ehrlich M, Lyle R, Hewitt JE (2012)
    Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis
    Eur J Hum Genet, 20 (9), 999-1003
    DOI 10.1038/ejhg.2012.42, PubMed 22378277
  43. Lu P, Zhang Y, Li L, Hu Y, Huang L, Li Y, Rayner S, Chen S (2012)
    Small non-coding RNA SraG regulates the operon YPK_1206-1205 in Yersinia pseudotuberculosis
    FEMS Microbiol Lett, 331 (1), 37-43
    DOI 10.1111/j.1574-6968.2012.02548.x, PubMed 22428705
  44. Lund C, Bremer A, Lossius MI, Selmer KK, Brodtkorb E, Nakken KO (2012)
    [Dravet syndrome as a cause of epilepsy and learning disability]
    Tidsskr Nor Laegeforen, 132 (1), 44-7
    DOI 10.4045/tidsskr.11.0539, PubMed 22240828
  45. Maniaol AH, Elsais A, Lorentzen ÅR, Owe JF, Viken MK, Sæther H, Flåm ST, Bråthen G, Kampman MT, Midgard R, Christensen M, Rognerud A, Kerty E, Gilhus NE, Tallaksen CM, Lie BA, Harbo HF (2012)
    Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population
    PLoS One, 7 (5), e36603
    DOI 10.1371/journal.pone.0036603, PubMed 22590574
  46. Marduel M, Ouguerram K, Serre V, Bonnefont-Rousselot D, Marques-Pinheiro A, Erik Berge K, Devillers M, Luc G, Lecerf JM, Tosolini L, Erlich D, Peloso GM, Stitziel N, Nitchké P, Jaïs JP, French Research Network on ADH, Abifadel M, Kathiresan S, Leren TP, Rabès JP, Boileau C, Varret M (2012)
    Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation
    Hum Mutat, 34 (1), 83-7
    DOI 10.1002/humu.22215, PubMed 22949395
  47. Mattingsdal M, Brown AA, Djurovic S, Sønderby IE, Server A, Melle I, Agartz I, Hovig E, Jensen J, Andreassen OA (2012)
    Pathway analysis of genetic markers associated with a functional MRI faces paradigm implicates polymorphisms in calcium responsive pathways
    Neuroimage, 70, 143-9
    DOI 10.1016/j.neuroimage.2012.12.035, PubMed 23274185
  48. Mellerup E, Andreassen O, Bennike B, Dam H, Djurovic S, Hansen T, Melle I, Møller GL, Mors O, Koefoed P (2012)
    Connection between genetic and clinical data in bipolar disorder
    PLoS One, 7 (9), e44623
    DOI 10.1371/journal.pone.0044623, PubMed 23028568
  49. Misceo D, Barøy T, Helle JR, Braaten O, Fannemel M, Frengen E (2012)
    1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development
    Gene, 507 (1), 85-91
    DOI 10.1016/j.gene.2012.07.021, PubMed 22842548
  50. Munthe-Kaas MC, Bertelsen RJ, Torjussen TM, Hjorthaug HS, Undlien DE, Lyle R, Gervin K, Granum B, Mowinckel P, Carlsen KH, Carlsen KC (2012)
    Pet keeping and tobacco exposure influence CD14 methylation in childhood
    Pediatr Allergy Immunol, 23 (8), 747-54
    DOI 10.1111/pai.12021, PubMed 23194293
  51. Møller P, Maehle L, Vabø A, Clark N, Sun P, Narod SA (2012)
    Age-specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway
    Clin Genet, 83 (1), 88-91
    DOI 10.1111/j.1399-0004.2012.01855.x, PubMed 22320316
  52. Nakasone ES, Askautrud HA, Kees T, Park JH, Plaks V, Ewald AJ, Fein M, Rasch MG, Tan YX, Qiu J, Park J, Sinha P, Bissell MJ, Frengen E, Werb Z, Egeblad M (2012)
    Imaging tumor-stroma interactions during chemotherapy reveals contributions of the microenvironment to resistance
    Cancer Cell, 21 (4), 488-503
    DOI 10.1016/j.ccr.2012.02.017, PubMed 22516258
  53. Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Colas C, Möller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gomez Garcia EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF (2012)
    Is colorectal surveillance indicated in patients with PTEN mutations?
    Colorectal Dis, 14 (9), e562-6
    DOI 10.1111/j.1463-1318.2012.03121.x, PubMed 22672595
  54. Nilsen TS, Knudsen GP, Gervin K, Brandt I, Røysamb E, Tambs K, Orstavik R, Lyle R, Reichborn-Kjennerud T, Magnus P, Harris JR (2012)
    The Norwegian Twin Registry from a public health perspective: a research update
    Twin Res Hum Genet, 16 (1), 285-95
    DOI 10.1017/thg.2012.117, PubMed 23186607
  55. Nordang GB, Carpenter D, Viken MK, Kvien TK, Armour JA, Lie BA (2012)
    Association analysis of the CCL3L1 copy number locus by paralogue ratio test in Norwegian rheumatoid arthritis patients and healthy controls
    Genes Immun, 13 (7), 579-82
    DOI 10.1038/gene.2012.30, PubMed 22785612
  56. Omair A, Lie BA, Reikeras O, Brox JI (2012)
    An Association Study of Interleukin 18 Receptor Genes (IL18R1 and IL18RAP) in Lumbar Disc Degeneration
    Open Orthop J, 6, 164-71
    DOI 10.2174/1874325001206010164, PubMed 22550553
  57. Omair A, Lie BA, Reikeras O, Holden M, Brox JI (2012)
    Genetic contribution of catechol-O-methyltransferase variants in treatment outcome of low back pain: a prospective genetic association study
    BMC Musculoskelet Disord, 13, 76
    DOI 10.1186/1471-2474-13-76, PubMed 22612913
  58. Qin B, Budeus B, Cao L, Wu C, Wang Y, Zhang X, Rayner S, Hoffmann D, Lu M, Chen X (2012)
    The amino acid substitutions rtP177G and rtF249A in the reverse transcriptase domain of hepatitis B virus polymerase reduce the susceptibility to tenofovir
    Antiviral Res, 97 (2), 93-100
    DOI 10.1016/j.antiviral.2012.12.007, PubMed 23261845
  59. Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M et al. (2012)
    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
    Nat Genet, 44 (11), 1243-8
    DOI 10.1038/ng.2414, PubMed 23001123
  60. Ronninger M, Seddighzadeh M, Eike MC, Plant D, Daha NA, Skinningsrud B, Worthington J, Kvien TK, Toes RE, Lie BA, Alfredsson L, Padyukov L (2012)
    Interaction analysis between HLA-DRB1 shared epitope alleles and MHC class II transactivator CIITA gene with regard to risk of rheumatoid arthritis
    PLoS One, 7 (3), e32861
    DOI 10.1371/journal.pone.0032861, PubMed 22461888
  61. Rønningen KS, Yap SE, Brandal K, Stormyr A, Lie BA, Rasmussen T, Stray-Pedersen B, Akselsen HE (2012)
    HLA-DRB1, -DQA1 and -DQB1 alleles and haplotypes in first-generation Pakistani immigrants in Norway
    Scand J Immunol, 75 (4), 426-30
    DOI 10.1111/j.1365-3083.2011.02669.x, PubMed 22171671
  62. Selmer KK, Bryne E, Rødningen OK, Fannemel M (2012)
    A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures
    Eur J Med Genet, 55 (12), 715-8
    DOI 10.1016/j.ejmg.2012.08.005, PubMed 22975012
  63. Skretting G, Iversen N, Myklebust CF, Dahm AE, Sandset PM (2012)
    Overexpression of tissue factor pathway inhibitor in CHO-K1 cells results in increased activation of NF-κB and apoptosis mediated by a caspase-3 independent pathway
    Mol Biol Rep, 39 (12), 10089-96
    DOI 10.1007/s11033-012-1882-7, PubMed 22932941
  64. Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ (2012)
    Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
    Hum Mol Genet, 22 (4), 696-703
    DOI 10.1093/hmg/dds477, PubMed 23161670
  65. Smith MJ, Wallace AJ, Bowers NL, Rustad CF, Woods CG, Leschziner GD, Ferner RE, Evans DG (2012)
    Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
    Neurogenetics, 13 (2), 141-5
    DOI 10.1007/s10048-012-0319-8, PubMed 22434358
  66. Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T (2012)
    Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
    Eur J Med Genet, 55 (3), 196-202
    DOI 10.1016/j.ejmg.2012.01.003, PubMed 22306853
  67. Squadrito ML, Pucci F, Magri L, Moi D, Gilfillan GD, Ranghetti A, Casazza A, Mazzone M, Lyle R, Naldini L, De Palma M (2012)
    miR-511-3p modulates genetic programs of tumor-associated macrophages
    Cell Rep, 1 (2), 141-54
    DOI 10.1016/j.celrep.2011.12.005, PubMed 22832163
  68. Stavik B, Skretting G, Olstad OK, Sletten M, Dehli Vigeland M, Sandset PM, Iversen N (2012)
    TFPI alpha and beta regulate mRNAs and microRNAs involved in cancer biology and in the immune system in breast cancer cells
    PLoS One, 7 (10), e47184
    DOI 10.1371/journal.pone.0047184, PubMed 23071754
  69. Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann Ø, Bernard M, Brown AA, Cannon DM, Chakravarty MM, Christoforou A, Domin M, Grimm O, Hollinshead M, Holmes AJ, Homuth G, Hottenga JJ, Langan C, Lopez LM, Hansell NK, Hwang KS et al. (2012)
    Identification of common variants associated with human hippocampal and intracranial volumes
    Nat Genet, 44 (5), 552-61
    DOI 10.1038/ng.2250, PubMed 22504417
  70. Straub T, Zabel A, Gilfillan GD, Feller C, Becker PB (2012)
    Different chromatin interfaces of the Drosophila dosage compensation complex revealed by high-shear ChIP-seq
    Genome Res, 23 (3), 473-85
    DOI 10.1101/gr.146407.112, PubMed 23233545
  71. Syvertsen MR, Markhus R, Selmer KK, Nakken KO (2012)
    [Juvenile myoclonic epilepsy]
    Tidsskr Nor Laegeforen, 132 (14), 1610-3
    DOI 10.4045/tidsskr.11.1518, PubMed 22875125
  72. Talseth-Palmer BA, Wijnen JT, Brenne IS, Jagmohan-Changur S, Barker D, Ashton KA, Tops CM, Evans TJ, McPhillips M, Groombridge C, Suchy J, Kurzawski G, Dutch Cancer Genetics Group, Spigelman A, Møller P, Morreau HM, Van Wezel T, Lubinski J, Vasen HF, Scott RJ (2012)
    Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers
    Int J Cancer, 132 (7), 1556-64
    DOI 10.1002/ijc.27843, PubMed 22987364
  73. Tveten K, Strøm TB, Cameron J, Berge KE, Leren TP (2012)
    Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia
    Atherosclerosis, 225 (2), 370-5
    DOI 10.1016/j.atherosclerosis.2012.10.026, PubMed 23102784
  74. Undlien DE (2012)
    [Individual genome sequencing]
    Tidsskr Nor Laegeforen, 132 (3), 264
    DOI 10.4045/tidsskr.11.1490, PubMed 22314723
  75. Vang T, Liu WH, Delacroix L, Wu S, Vasile S, Dahl R, Yang L, Musumeci L, Francis D, Landskron J, Tasken K, Tremblay ML, Lie BA, Page R, Mustelin T, Rahmouni S, Rickert RC, Tautz L (2012)
    LYP inhibits T-cell activation when dissociated from CSK
    Nat Chem Biol, 8 (5), 437-46
    DOI 10.1038/nchembio.916, PubMed 22426112
  76. Vassos E, Steinberg S, Cichon S, Breen G, Sigurdsson E, Andreassen OA, Djurovic S, Morken G, Grigoroiu-Serbanescu M, Diaconu CC, Czerski PM, Hauser J, Babadjanova G, Abramova LI, Mühleisen TW, Nöthen MM, Rietschel M, McGuffin P, St Clair D, Gustafsson O, Melle I, Pietiläinen OP, Ruggeri M, Tosato S, Werge T et al. (2012)
    Replication study and meta-analysis in European samples supports association of the 3p21.1 locus with bipolar disorder
    Biol Psychiatry, 72 (8), 645-50
    DOI 10.1016/j.biopsych.2012.02.040, PubMed 22560537
  77. Wang L, Lv X, Zhai Y, Fu S, Wang D, Rayner S, Tang Q, Liang G (2012)
    Genomic characterization of a novel virus of the family Tymoviridae isolated from mosquitoes
    PLoS One, 7 (7), e39845
    DOI 10.1371/journal.pone.0039845, PubMed 22848363
  78. Winkel BG, Larsen MK, Berge KE, Leren TP, Nissen PH, Olesen MS, Hollegaard MV, Jespersen T, Yuan L, Nielsen N, Haunsø S, Svendsen JH, Wang Y, Kristensen IB, Jensen HK, Tfelt-Hansen J, Banner J (2012)
    The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases
    J Cardiovasc Electrophysiol, 23 (10), 1092-8
    DOI 10.1111/j.1540-8167.2012.02371.x, PubMed 22882672
  79. Wirgenes KV, Sønderby IE, Haukvik UK, Mattingsdal M, Tesli M, Athanasiu L, Sundet K, Røssberg JI, Dale AM, Brown AA, Agartz I, Melle I, Djurovic S, Andreassen OA (2012)
    TCF4 sequence variants and mRNA levels are associated with neurodevelopmental characteristics in psychotic disorders
    Transl Psychiatry, 2, e112
    DOI 10.1038/tp.2012.39, PubMed 22832956
  80. Xu J, Lange EM, Lu L, Zheng SL, Wang Z, Thibodeau SN, Cannon-Albright LA, Teerlink CC, Camp NJ, Johnson AM, Zuhlke KA, Stanford JL, Ostrander EA, Wiley KE, Isaacs SD, Walsh PC, Maier C, Luedeke M, Vogel W, Schleutker J, Wahlfors T, Tammela T, Schaid D, McDonnell SK, DeRycke MS et al. (2012)
    HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG)
    Hum Genet, 132 (1), 5-14
    DOI 10.1007/s00439-012-1229-4, PubMed 23064873
  81. Yin CP, Zhou H, Wu H, Tao XY, Rayner S, Wang SM, Tang Q, Liang GD (2012)
    Analysis on factors related to rabies epidemic in China from 2007-2011
    Virol Sin, 27 (2), 132-43
    DOI 10.1007/s12250-012-3244-y, PubMed 22492004
  82. Yu J, Li H, Tang Q, Rayner S, Han N, Guo Z, Liu H, Adams J, Fang W, Tao X, Wang S, Liang G (2012)
    The spatial and temporal dynamics of rabies in China
    PLoS Negl Trop Dis, 6 (5), e1640
    DOI 10.1371/journal.pntd.0001640, PubMed 22563518
  83. Yu PC, Noguchi A, Inoue S, Tang Q, Rayner S, Liang GD (2012)
    Comparison of RFFIT tests with different standard sera and testing procedures
    Virol Sin, 27 (3), 187-93
    DOI 10.1007/s12250-012-3247-8, PubMed 22684473
  84. Østern R, Fagerheim T, Ørstavik K, Holmøy T, Heiberg A, Lund-Petersen I, Strom TM, Nilssen Ø, Dahl A (2012)
    Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene
    Neuromuscul Disord, 22 (6), 511-21
    DOI 10.1016/j.nmd.2012.01.011, PubMed 22475618

Publications 2011

  1. Agartz I, Brown AA, Rimol LM, Hartberg CB, Dale AM, Melle I, Djurovic S, Andreassen OA (2011)
    Common sequence variants in the major histocompatibility complex region associate with cerebral ventricular size in schizophrenia
    Biol Psychiatry, 70 (7), 696-8
    DOI 10.1016/j.biopsych.2011.02.034, PubMed 21514568
  2. Akre H, Øverland B, Åsten P, Skogedal N, Heimdal K (2011)
    Obstructive sleep apnea in Treacher Collins syndrome
    Eur Arch Otorhinolaryngol, 269 (1), 331-7
    DOI 10.1007/s00405-011-1649-0, PubMed 21626120
  3. Bakken TE, Bloss CS, Roddey JC, Joyner AH, Rimol LM, Djurovic S, Melle I, Sundet K, Agartz I, Andreassen OA, Dale AM, Schork NJ (2011)
    Association of genetic variants on 15q12 with cortical thickness and cognition in schizophrenia
    Arch Gen Psychiatry, 68 (8), 781-90
    DOI 10.1001/archgenpsychiatry.2011.81, PubMed 21810643
  4. Berg V, Lyche JL, Karlsson C, Stavik B, Nourizadeh-Lillabadi R, Hårdnes N, Skaare JU, Alestrøm P, Lie E, Ropstad E (2011)
    Accumulation and effects of natural mixtures of persistent organic pollutants (POP) in Zebrafish after two generations of exposure
    J Toxicol Environ Health A, 74 (7-9), 407-23
    DOI 10.1080/15287394.2011.550455, PubMed 21391088
  5. Brandt C, Jakobsen AH, Adser H, Olesen J, Iversen N, Kristensen JM, Hojman P, Wojtaszewski JF, Hidalgo J, Pilegaard H (2011)
    IL-6 regulates exercise and training-induced adaptations in subcutaneous adipose tissue in mice
    Acta Physiol (Oxf), 205 (2), 224-35
    DOI 10.1111/j.1748-1716.2011.02373.x, PubMed 21991887
  6. Chen P, Rayner S, Hu KH (2011)
    Advances of bioinformatics tools applied in virus epitopes prediction
    Virol Sin, 26 (1), 1-7
    DOI 10.1007/s12250-011-3159-4, PubMed 21331885
  7. Cichon S, Muehleisen TW, Degenhardt FA, Mattheisen M, Miro X, Strohmaier J, Steffens M, Meesters C, Herms S, Weingarten M, Priebe L, Haenisch B, Alexander M, Vollmer J, Breuer R, Schmal C, Tessmann P, Moebus S, Wichmann HE, Schreiber S, Muller-Myhsok B, Lucae S, Jamain S, Leboyer M, Bellivier F et al. (2011)
    Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder (vol 88, pg 372, 2011)
    Am. J. Hum. Genet., 88 (3), 396
  8. Cichon S, Mühleisen TW, Degenhardt FA, Mattheisen M, Miró X, Strohmaier J, Steffens M, Meesters C, Herms S, Weingarten M, Priebe L, Haenisch B, Alexander M, Vollmer J, Breuer R, Schmäl C, Tessmann P, Moebus S, Wichmann HE, Schreiber S, Müller-Myhsok B, Lucae S, Jamain S, Leboyer M, Bellivier F et al. (2011)
    Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder
    Am J Hum Genet, 88 (3), 372-81
    DOI 10.1016/j.ajhg.2011.01.017, PubMed 21353194
  9. Cortes J, Hochhaus A, Hughes T, Kantarjian H (2011)
    Front-line and salvage therapies with tyrosine kinase inhibitors and other treatments in chronic myeloid leukemia
    J Clin Oncol, 29 (5), 524-31
    DOI 10.1200/JCO.2010.31.3619, PubMed 21220597
  10. De Filippis R, Pancrazi L, Bjørgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli MA, Hayek J, Renieri A, Costa M, Mari F (2011)
    Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics
    Clin Genet, 82 (4), 395-403
    DOI 10.1111/j.1399-0004.2011.01810.x, PubMed 22091895
  11. Fagan M, Mæhlen M, Lindbæk M, Berild D (2011)
    Antibiotic prescribing in nursing homes in an area with low prevalence of antibiotic resistance: compliance with national guidelines
    Scand J Prim Health Care, 30 (1), 10-5
    DOI 10.3109/02813432.2011.629156, PubMed 22188479
  12. Finsen AV, Lunde IG, Sjaastad I, Østli EK, Lyngra M, Jarstadmarken HO, Hasic A, Nygård S, Wilcox-Adelman SA, Goetinck PF, Lyberg T, Skrbic B, Florholmen G, Tønnessen T, Louch WE, Djurovic S, Carlson CR, Christensen G (2011)
    Syndecan-4 is essential for development of concentric myocardial hypertrophy via stretch-induced activation of the calcineurin-NFAT pathway
    PLoS One, 6 (12), e28302
    DOI 10.1371/journal.pone.0028302, PubMed 22164265
  13. Frich JC, Heiberg A (2011)
    [Dementia among younger persons and Huntington disease]
    Tidsskr Nor Laegeforen, 131 (17), 1639; author reply 1639
    DOI 10.4045/tidsskr.11.0791, PubMed 21901032
  14. Gervin K, Hammerø M, Akselsen HE, Moe R, Nygård H, Brandt I, Gjessing HK, Harris JR, Undlien DE, Lyle R (2011)
    Extensive variation and low heritability of DNA methylation identified in a twin study
    Genome Res, 21 (11), 1813-21
    DOI 10.1101/gr.119685.110, PubMed 21948560
  15. Han N, Rayner S (2011)
    Epidemiology and mutational analysis of global strains of Crimean-Congo haemorrhagic fever virus
    Virol Sin, 26 (4), 229-44
    DOI 10.1007/s12250-011-3211-z, PubMed 21847754
  16. Hansen T, Ingason A, Djurovic S, Melle I, Fenger M, Gustafsson O, Jakobsen KD, Rasmussen HB, Tosato S, Rietschel M, Frank J, Owen M, Bonetto C, Suvisaari J, Thygesen JH, Pétursson H, Lönnqvist J, Sigurdsson E, Giegling I, Craddock N, O'Donovan MC, Ruggeri M, Cichon S, Ophoff RA, Pietiläinen O et al. (2011)
    At-risk variant in TCF7L2 for type II diabetes increases risk of schizophrenia
    Biol Psychiatry, 70 (1), 59-63
    DOI 10.1016/j.biopsych.2011.01.031, PubMed 21414605
  17. Harbo HF, Lorentzen AR, Lie BA, Celius EG, Spurkland A (2011)
    [New gene map for multiple sclerosis]
    Tidsskr Nor Laegeforen, 131 (21), 2126-30
    DOI 10.4045/tidsskr.10.0823, PubMed 22048209
  18. Holen HL, Zernichow L, Fjelland KE, Evenroed IM, Prydz K, Tveit H, Aasheim HC (2011)
    Ephrin-B3 binds to a sulfated cell-surface receptor
    Biochem J, 433 (1), 215-23
    DOI 10.1042/BJ20100865, PubMed 20925654
  19. Holen HL, Zernichow L, Fjelland KE, Evenroed IM, Tveit H, Aasheim HC (2011)
    Ephrin-B3 binds specifically to B lymphocytes in blood and induces migration
    Scand J Immunol, 74 (2), 144-54
    DOI 10.1111/j.1365-3083.2011.02563.x, PubMed 21447033
  20. Holla ØL, Cameron J, Tveten K, Strøm TB, Berge KE, Laerdahl JK, Leren TP (2011)
    Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors
    J Lipid Res, 52 (10), 1787-94
    DOI 10.1194/jlr.M018093, PubMed 21771976
  21. Holla ØL, Laerdahl JK, Strøm TB, Tveten K, Cameron J, Berge KE, Leren TP (2011)
    Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor
    Biochem Biophys Res Commun, 406 (2), 234-8
    DOI 10.1016/j.bbrc.2011.02.023, PubMed 21324305
  22. Ingason A, Kirov G, Giegling I, Hansen T, Isles AR, Jakobsen KD, Kristinsson KT, le Roux L, Gustafsson O, Craddock N, Möller HJ, McQuillin A, Muglia P, Cichon S, Rietschel M, Ophoff RA, Djurovic S, Andreassen OA, Pietiläinen OP, Peltonen L, Dempster E, Collier DA, St Clair D, Rasmussen HB, Glenthøj BY et al. (2011)
    Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness
    Am J Psychiatry, 168 (4), 408-17
    DOI 10.1176/appi.ajp.2010.09111660, PubMed 21324950
  23. Knappskog S, Bjørnslett M, Myklebust LM, Huijts PE, Vreeswijk MP, Edvardsen H, Guo Y, Zhang X, Yang M, Ylisaukko-Oja SK, Alhopuro P, Arola J, Tollenaar RA, van Asperen CJ, Seynaeve C, Staalesen V, Chrisanthar R, Løkkevik E, Salvesen HB, Evans DG, Newman WG, Lin D, Aaltonen LA, Børresen-Dale AL, Tell GS et al. (2011)
    The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians
    Cancer Cell, 19 (2), 273-82
    DOI 10.1016/j.ccr.2010.12.019, PubMed 21316605
  24. Koefoed P, Andreassen OA, Bennike B, Dam H, Djurovic S, Hansen T, Jorgensen MB, Kessing LV, Melle I, Møller GL, Mors O, Werge T, Mellerup E (2011)
    Combinations of SNPs related to signal transduction in bipolar disorder
    PLoS One, 6 (8), e23812
    DOI 10.1371/journal.pone.0023812, PubMed 21897858
  25. Kohonen-Corish MR, Macrae F, Genuardi M, Aretz S, Bapat B, Bernstein IT, Burn J, Cotton RG, den Dunnen JT, Frebourg T, Greenblatt MS, Hofstra R, Holinski-Feder E, Lappalainen I, Lindblom A, Maglott D, Møller P, Morreau H, Möslein G, Sijmons R, Spurdle AB, Tavtigian S, Tops CM, Weber TK, de Wind N et al. (2011)
    Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010
    Hum Mutat, 32 (4), 491-4
    DOI 10.1002/humu.21450, PubMed 21387463
  26. Kostovski E, Dahm AE, Iversen N, Hjeltnes N, Østerud B, Sandset PM, Iversen PO (2011)
    Melatonin stimulates release of tissue factor pathway inhibitor from the vascular endothelium
    Blood Coagul Fibrinolysis, 22 (4), 254-9
    DOI 10.1097/MBC.0b013e3283442ce2, PubMed 21297449
  27. Larsen MK, Nissen PH, Berge KE, Leren TP, Kristensen IB, Jensen HK, Banner J (2011)
    Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy
    Forensic Sci Int, 219 (1-3), 33-8
    DOI 10.1016/j.forsciint.2011.11.020, PubMed 22177269
  28. Leren TP, Berge KE (2011)
    Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated
    PLoS One, 6 (2), e16721
    DOI 10.1371/journal.pone.0016721, PubMed 21364743
  29. Lu L, Cancel-Tassin G, Valeri A, Cussenot O, Lange EM, Cooney KA, Farnham JM, Camp NJ, Cannon-Albright LA, Tammela TL, Schleutker J, Hoegel J, Herkommer K, Maier C, Vogel W, Wiklund F, Emanuelsson M, Grönberg H, Wiley KE, Isaacs SD, Walsh PC, Helfand BT, Kan D, Catalona WJ, Stanford JL et al. (2011)
    Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG
    Prostate, 72 (4), 410-26
    DOI 10.1002/pros.21443, PubMed 21748754
  30. Mamisch TC, Hughes T, Mosher TJ, Mueller C, Trattnig S, Boesch C, Welsch GH (2011)
    T2 star relaxation times for assessment of articular cartilage at 3 T: a feasibility study
    Skeletal Radiol, 41 (3), 287-92
    DOI 10.1007/s00256-011-1171-x, PubMed 21499976
  31. Mengel-From J, Thinggaard M, Christiansen L, Vaupel JW, Orstavik KH, Christensen K (2011)
    Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons
    Eur J Hum Genet, 20 (3), 361-4
    DOI 10.1038/ejhg.2011.215, PubMed 22146940
  32. Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E (2011)
    A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
    Am J Med Genet A, 155A (2), 403-8
    DOI 10.1002/ajmg.a.33798, PubMed 21271662
  33. Mousavi SA, Berge KE, Berg T, Leren TP (2011)
    Affinity and kinetics of proprotein convertase subtilisin/kexin type 9 binding to low-density lipoprotein receptors on HepG2 cells
    FEBS J, 278 (16), 2938-50
    DOI 10.1111/j.1742-4658.2011.08219.x, PubMed 21692990
  34. Myrset AH, Fjerdingstad HB, Bendiksen R, Arbo BE, Bjerke RM, Johansen JH, Kulseth MA, Skurtveit R (2011)
    Design and characterization of targeted ultrasound microbubbles for diagnostic use
    Ultrasound Med Biol, 37 (1), 136-50
    DOI 10.1016/j.ultrasmedbio.2010.10.010, PubMed 21144962
  35. Olsen L, Hansen T, Djurovic S, Haastrup E, Albrecthsen A, Hoeffding LK, Secher A, Gustafsson O, Jakobsen KD, Nielsen FC, Ullum H, Morken G, Agartz I, Melle I, Gether U, Andreassen OA, Werge T (2011)
    Copy number variations in affective disorders and meta-analysis
    Psychiatr Genet, 21 (6), 319-22
    DOI 10.1097/YPG.0b013e3283463deb, PubMed 21451435
  36. Pan XL, Liu H, Wang HY, Fu SH, Liu HZ, Zhang HL, Li MH, Gao XY, Wang JL, Sun XH, Lu XJ, Zhai YG, Meng WS, He Y, Wang HQ, Han N, Wei B, Wu YG, Feng Y, Yang DJ, Wang LH, Tang Q, Xia G, Kurane I, Rayner S et al. (2011)
    Emergence of genotype I of Japanese encephalitis virus as the dominant genotype in Asia
    J Virol, 85 (19), 9847-53
    DOI 10.1128/JVI.00825-11, PubMed 21697481
  37. Prescott TE, Smith MJ, Evans DG (2011)
    Comment on the article "Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri" by van den Munckhof et al
    Neurogenetics, 13 (1), 103-4
    DOI 10.1007/s10048-011-0309-2, PubMed 22203059
  38. Psychiatric GWAS Consortium Bipolar Disorder Working Group (2011)
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4
    Nat Genet, 43 (10), 977-83
    DOI 10.1038/ng.943, PubMed 21926972
  39. Qiu J, Qin B, Rayner S, Wu CC, Pei RJ, Xu S, Wang Y, Chen XW (2011)
    Novel evidence suggests Hepatitis B virus surface proteins participate in regulation of HBV genome replication
    Virol Sin, 26 (2), 131-8
    DOI 10.1007/s12250-011-3190-0, PubMed 21468936
  40. Ramm-Pettersen A, Selmer KK, Nakken KO (2011)
    [Glucose transporter protein type 1 (GLUT-1) deficiency syndrome]
    Tidsskr Nor Laegeforen, 131 (8), 828-31
    PubMed 21556087
  41. Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, Radhakrishna U (2011)
    Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing
    Invest Ophthalmol Vis Sci, 52 (9), 6814-9
    DOI 10.1167/iovs.10-6815, PubMed 21357393
  42. Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH (2011)
    Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
    Orphanet J Rare Dis, 6, 58
    DOI 10.1186/1750-1172-6-58, PubMed 21878110
  43. Rodríguez-Rodríguez L, Taib WR, Topless R, Steer S, González-Escribano MF, Balsa A, Pascual-Salcedo D, González-Gay MA, Raya E, Fernandez-Gutierrez B, González-Álvaro I, Bottini N, Witte T, Viken MK, Coenen MJ, van Riel PL, Franke B, den Heijer M, Radstake TR, Wordsworth P, Lie BA, Merriman TR, Martín J (2011)
    The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples
    Arthritis Rheum, 63 (2), 365-72
    DOI 10.1002/art.30145, PubMed 21279993
  44. Sarvari SI, Haugaa KH, Anfinsen OG, Leren TP, Smiseth OA, Kongsgaard E, Amlie JP, Edvardsen T (2011)
    Right ventricular mechanical dispersion is related to malignant arrhythmias: a study of patients with arrhythmogenic right ventricular cardiomyopathy and subclinical right ventricular dysfunction
    Eur Heart J, 32 (9), 1089-96
    DOI 10.1093/eurheartj/ehr069, PubMed 21406439
  45. Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (2011)
    Genome-wide association study identifies five new schizophrenia loci
    Nat Genet, 43 (10), 969-76
    DOI 10.1038/ng.940, PubMed 21926974
  46. Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE (2011)
    A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
    Eur J Hum Genet, 20 (1), 58-63
    DOI 10.1038/ejhg.2011.126, PubMed 21712855
  47. Sheng Y, Previti C (2011)
    Genomic features and computational identification of human microRNAs under long-range developmental regulation
    BMC Genomics, 12, 270
    DOI 10.1186/1471-2164-12-270, PubMed 21619633
  48. Skinningsrud B, Lie BA, Lavant E, Carlson JA, Erlich H, Akselsen HE, Gervin K, Wolff AB, Erichsen MM, Løvås K, Husebye ES, Undlien DE (2011)
    Multiple loci in the HLA complex are associated with Addison's disease
    J Clin Endocrinol Metab, 96 (10), E1703-8
    DOI 10.1210/jc.2011-0645, PubMed 21816777
  49. Smith MJ, Kulkarni A, Rustad C, Bowers NL, Wallace AJ, Holder SE, Heiberg A, Ramsden RT, Evans DG (2011)
    Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis
    Am J Med Genet A, 158A (1), 215-9
    DOI 10.1002/ajmg.a.34376, PubMed 22105938
  50. Stavik B, Skretting G, Aasheim HC, Tinholt M, Zernichow L, Sletten M, Sandset PM, Iversen N (2011)
    Downregulation of TFPI in breast cancer cells induces tyrosine phosphorylation signaling and increases metastatic growth by stimulating cell motility
    BMC Cancer, 11, 357
    DOI 10.1186/1471-2407-11-357, PubMed 21849050
  51. Stax MJ, Naarding MA, Tanck MW, Lindquist S, Hernell O, Lyle R, Brandtzaeg P, Eggesbø M, Pollakis G, Paxton WA (2011)
    Binding of human milk to pathogen receptor DC-SIGN varies with bile salt-stimulated lipase (BSSL) gene polymorphism
    PLoS One, 6 (2), e17316
    DOI 10.1371/journal.pone.0017316, PubMed 21386960
  52. Steinberg S, de Jong S, Irish Schizophrenia Genomics Consortium, Andreassen OA, Werge T, Børglum AD, Mors O, Mortensen PB, Gustafsson O, Costas J, Pietiläinen OP, Demontis D, Papiol S, Huttenlocher J, Mattheisen M, Breuer R, Vassos E, Giegling I, Fraser G, Walker N, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Agartz I et al. (2011)
    Common variants at VRK2 and TCF4 conferring risk of schizophrenia
    Hum Mol Genet, 20 (20), 4076-81
    DOI 10.1093/hmg/ddr325, PubMed 21791550
  53. Strøm EH, Sund S, Reier-Nilsen M, Dørje C, Leren TP (2011)
    Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence
    Ultrastruct Pathol, 35 (3), 139-45
    DOI 10.3109/01913123.2010.551578, PubMed 21323422
  54. Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP (2011)
    Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum
    Biochem Biophys Res Commun, 415 (4), 642-5
    DOI 10.1016/j.bbrc.2011.10.127, PubMed 22079632
  55. Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP (2011)
    The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation
    Biochem Biophys Res Commun, 408 (4), 642-6
    DOI 10.1016/j.bbrc.2011.04.077, PubMed 21531209
  56. Tesli M, Koefoed P, Athanasiu L, Mattingsdal M, Gustafsson O, Agartz I, Rimol LM, Brown A, Wirgenes KV, Smorr LL, Kähler AK, Werge T, Mors O, Mellerup E, Jönsson EG, Melle I, Morken G, Djurovic S, Andreassen OA (2011)
    Association analysis of ANK3 gene variants in nordic bipolar disorder and schizophrenia case-control samples
    Am J Med Genet B Neuropsychiatr Genet, 156B (8), 969-74
    DOI 10.1002/ajmg.b.31244, PubMed 21972176
  57. Tjeldhorn L, Iversen N, Sandvig K, Bergan J, Sandset PM, Skretting G (2011)
    Protein C mutation (A267T) results in ER retention and unfolded protein response activation
    PLoS One, 6 (8), e24009
    DOI 10.1371/journal.pone.0024009, PubMed 21901152
  58. Toleikyte I, Retterstøl K, Leren TP, Iversen PO (2011)
    Pregnancy outcomes in familial hypercholesterolemia: a registry-based study
    Circulation, 124 (15), 1606-14
    DOI 10.1161/CIRCULATIONAHA.110.990929, PubMed 21911783
  59. Torjussen TM, Lødrup Carlsen KC, Munthe-Kaas MC, Mowinckel P, Carlsen KH, Helms PJ, Gerritsen J, Whyte MK, Lenney W, Undlien DE, Shianna KV, Zhu G, Pillai SG (2011)
    Alpha-nicotinic acetylcholine receptor and tobacco smoke exposure: effects on bronchial hyperresponsiveness in children
    Pediatr Allergy Immunol, 23 (1), 40-9
    DOI 10.1111/j.1399-3038.2011.01222.x, PubMed 22017462
  60. Tveten K, Holla ØL, Cameron J, Strøm TB, Berge KE, Laerdahl JK, Leren TP (2011)
    Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification
    Hum Mol Genet, 21 (6), 1402-9
    DOI 10.1093/hmg/ddr578, PubMed 22156580
  61. Tveten K, Strøm TB, Cameron J, Holla ØL, Berge KE, Leren TP (2011)
    Characterization of a naturally occurring degradation product of the LDL receptor
    Mol Genet Metab, 105 (1), 149-54
    DOI 10.1016/j.ymgme.2011.10.008, PubMed 22078455
  62. Van Schijndel JE, Van Zweeden M, Van Loo KM, Djurovic S, Andreassen OA, Hansen T, Werge T, Nyegaard M, Sørensen KM, Nordentoft M, Mortensen PB, Mors O, Børglum AD, Del-Favero J, Norrback KF, Adolfsson R, De Hert M, Claes S, Cichon S, Rietschel M, Nöthen MM, Kallunki P, Pedersen JT, Martens GJ (2011)
    Dual association of a TRKA polymorphism with schizophrenia
    Psychiatr Genet, 21 (3), 125-31
    DOI 10.1097/YPG.0b013e3283437194, PubMed 21317683
  63. Warsame AA, Aasheim HC, Nustad K, Trøen G, Tierens A, Wang V, Randen U, Dong HP, Heim S, Brech A, Delabie J (2011)
    Splenic marginal zone lymphoma with VH1-02 gene rearrangement expresses poly- and self-reactive antibodies with similar reactivity
    Blood, 118 (12), 3331-9
    DOI 10.1182/blood-2011-03-341651, PubMed 21725051
  64. Wei B, Han N, Liu HZ, Rayner A, Rayner S (2011)
    Use of mutual information arrays to predict coevolving sites in the full length HIV gp120 protein for subtypes B and C
    Virol Sin, 26 (2), 95-104
    DOI 10.1007/s12250-011-3188-7, PubMed 21468932
  65. Wu Y, Wei B, Liu H, Li T, Rayner S (2011)
    MiRPara: a SVM-based software tool for prediction of most probable microRNA coding regions in genome scale sequences
    BMC Bioinformatics, 12, 107
    DOI 10.1186/1471-2105-12-107, PubMed 21504621
  66. Zhao JR, Li YD, Pan LM, Zhu N, Ni HX, Xu GZ, Jiang YZ, Huo XX, Xu JQ, Xia H, Han N, Tang S, Zhang Z, Kou Z, Rayner S, Li TX (2011)
    Genetic characteristics of 2009 pandemic H1N1 influenza a viruses isolated from Mainland China
    Virol Sin, 26 (6), 418-27
    DOI 10.1007/s12250-011-3228-3, PubMed 22160942
  67. Aas M, Djurovic S, Athanasiu L, Steen NE, Agartz I, Lorentzen S, Sundet K, Andreassen OA, Melle I (2011)
    Serotonin transporter gene polymorphism, childhood trauma, and cognition in patients with psychotic disorders
    Schizophr Bull, 38 (1), 15-22
    DOI 10.1093/schbul/sbr113, PubMed 21908796

Publications 2010

  1. Arason A, Gunnarsson H, Johannesdottir G, Jonasson K, Bendahl PO, Gillanders EM, Agnarsson BA, Jönsson G, Pylkäs K, Mustonen A, Heikkinen T, Aittomäki K, Blomqvist C, Melin B, Johannsson OT, Møller P, Winqvist R, Nevanlinna H, Borg A, Barkardottir RB (2010)
    Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families
    Breast Cancer Res, 12 (4), R50
    DOI 10.1186/bcr2608, PubMed 20637093
  2. Athanasiu L, Mattingsdal M, Kähler AK, Brown A, Gustafsson O, Agartz I, Giegling I, Muglia P, Cichon S, Rietschel M, Pietiläinen OP, Peltonen L, Bramon E, Collier D, Clair DS, Sigurdsson E, Petursson H, Rujescu D, Melle I, Steen VM, Djurovic S, Andreassen OA (2010)
    Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort
    J Psychiatr Res, 44 (12), 748-53
    DOI 10.1016/j.jpsychires.2010.02.002, PubMed 20185149
  3. Athanasiu L, Mattingsdal M, Melle I, Inderhaug E, Lien T, Agartz I, Lorentzen S, Morken G, Andreassen OA, Djurovic S (2010)
    Intron 12 in NTRK3 is associated with bipolar disorder
    Psychiatry Res, 185 (3), 358-62
    DOI 10.1016/j.psychres.2010.05.011, PubMed 20554328
  4. Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E (2010)
    A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
    Eur J Med Genet, 53 (4), 221-4
    DOI 10.1016/j.ejmg.2010.03.010, PubMed 20382277
  5. Barøy T, Sørensen K, Lindeberg MM, Frengen E (2010)
    shRNA expression constructs designed directly from siRNA oligonucleotide sequences
    Mol Biotechnol, 45 (2), 116-20
    DOI 10.1007/s12033-010-9247-8, PubMed 20119685
  6. Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A et al. (2010)
    Peutz-Jeghers syndrome: a systematic review and recommendations for management
    Gut, 59 (7), 975-86
    DOI 10.1136/gut.2009.198499, PubMed 20581245
  7. Berge KE, Leren TP (2010)
    Mutations in APOA-I and ABCA1 in Norwegians with low levels of HDL cholesterol
    Clin Chim Acta, 411 (23-24), 2019-23
    DOI 10.1016/j.cca.2010.08.027, PubMed 20800056
  8. Bodd TL, Van Ghelue M, Eiklid K, Ruud E, Møller P, Mæhle L (2010)
    Fanconi anaemia, BRCA2 and familial considerations - follow up on a previous case report
    Acta Paediatr, 99 (11), 1741-3
    DOI 10.1111/j.1651-2227.2010.01929.x, PubMed 20608899
  9. Chen X, Lee G, Maher BS, Fanous AH, Chen J, Zhao Z, Guo A, van den Oord E, Sullivan PF, Shi J, Levinson DF, Gejman PV, Sanders A, Duan J, Owen MJ, Craddock NJ, O'Donovan MC, Blackman J, Lewis D, Kirov GK, Qin W, Schwab S, Wildenauer D, Chowdari K, Nimgaonkar V et al. (2010)
    GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia
    Mol Psychiatry, 16 (11), 1117-29
    DOI 10.1038/mp.2010.96, PubMed 20838396
  10. Christensen GB, Baffoe-Bonnie AB, George A, Powell I, Bailey-Wilson JE, Carpten JD, Giles GG, Hopper JL, Severi G, English DR, Foulkes WD, Maehle L, Moller P, Eeles R, Easton D, Badzioch MD, Whittemore AS, Oakley-Girvan I, Hsieh CL, Dimitrov L, Xu J, Stanford JL, Johanneson B, Deutsch K, McIntosh L et al. (2010)
    Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses
    Prostate, 70 (7), 735-44
    DOI 10.1002/pros.21106, PubMed 20333727
  11. Djurovic S, Gustafsson O, Mattingsdal M, Athanasiu L, Bjella T, Tesli M, Agartz I, Lorentzen S, Melle I, Morken G, Andreassen OA (2010)
    A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample
    J Affect Disord, 126 (1-2), 312-6
    DOI 10.1016/j.jad.2010.04.007, PubMed 20451256
  12. Edén U, Riise R, Tornqvist K (2010)
    Corneal involvement in congenital aniridia
    Cornea, 29 (10), 1096-102
    DOI 10.1097/ICO.0b013e3181d20493, PubMed 20567200
  13. Eide MB, Liestøl K, Lingjaerde OC, Hystad ME, Kresse SH, Meza-Zepeda L, Myklebost O, Trøen G, Aamot HV, Holte H, Smeland EB, Delabie J (2010)
    Genomic alterations reveal potential for higher grade transformation in follicular lymphoma and confirm parallel evolution of tumor cell clones
    Blood, 116 (9), 1489-97
    DOI 10.1182/blood-2010-03-272278, PubMed 20505157
  14. Gjone H, Diseth TH, Fausa O, Nøvik TS, Heiberg A (2010)
    Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents
    Clin Genet, 79 (1), 35-43
    DOI 10.1111/j.1399-0004.2010.01534.x, PubMed 21143468
  15. Haugaa KH, Amlie JP, Berge KE, Leren TP, Smiseth OA, Edvardsen T (2010)
    Transmural differences in myocardial contraction in long-QT syndrome: mechanical consequences of ion channel dysfunction
    Circulation, 122 (14), 1355-63
    DOI 10.1161/CIRCULATIONAHA.110.960377, PubMed 20855658
  16. Haugaa KH, Leren IS, Berge KE, Bathen J, Loennechen JP, Anfinsen OG, Früh A, Edvardsen T, Kongsgård E, Leren TP, Amlie JP (2010)
    High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening
    Europace, 12 (3), 417-23
    DOI 10.1093/europace/eup448, PubMed 20106799
  17. Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K (2010)
    Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes
    Hum Mutat, 31 (4), 429-36
    DOI 10.1002/humu.21204, PubMed 20120035
  18. Holen HL, Nustad K, Aasheim HC (2010)
    Activation of EphA receptors on CD4+CD45RO+ memory cells stimulates migration
    J Leukoc Biol, 87 (6), 1059-68
    DOI 10.1189/jlb.0709497, PubMed 20160140
  19. Holtze M, Saetre P, Erhardt S, Schwieler L, Werge T, Hansen T, Nielsen J, Djurovic S, Melle I, Andreassen OA, Hall H, Terenius L, Agartz I, Engberg G, Jönsson EG, Schalling M (2010)
    Kynurenine 3-monooxygenase (KMO) polymorphisms in schizophrenia: an association study
    Schizophr Res, 127 (1-3), 270-2
    DOI 10.1016/j.schres.2010.10.002, PubMed 21030213
  20. Ingason A, Giegling I, Cichon S, Hansen T, Rasmussen HB, Nielsen J, Jürgens G, Muglia P, Hartmann AM, Strengman E, Vasilescu C, Mühleisen TW, Djurovic S, Melle I, Lerer B, Möller HJ, Francks C, Pietiläinen OP, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Walshe M, Vassos E, Di Forti M, Murray R et al. (2010)
    A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia
    Hum Mol Genet, 19 (7), 1379-86
    DOI 10.1093/hmg/ddq009, PubMed 20071346
  21. Kulseth MA, Berge KE, Bogsrud MP, Leren TP (2010)
    Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site
    J Hum Genet, 55 (10), 676-80
    DOI 10.1038/jhg.2010.87, PubMed 20703241
  22. Kulseth MA, Lyle R, Rødningen OK, Sorte H, Prescott T (2010)
    Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly
    Eur J Med Genet, 54 (2), 130-5
    DOI 10.1016/j.ejmg.2010.10.011, PubMed 21044704
  23. Kähler AK, Otnaess MK, Wirgenes KV, Hansen T, Jönsson EG, Agartz I, Hall H, Werge T, Morken G, Mors O, Mellerup E, Dam H, Koefod P, Melle I, Steen VM, Andreassen OA, Djurovic S (2010)
    Association study of PDE4B gene variants in Scandinavian schizophrenia and bipolar disorder multicenter case-control samples
    Am J Med Genet B Neuropsychiatr Genet, 153B (1), 86-96
    DOI 10.1002/ajmg.b.30958, PubMed 19350560
  24. Launer LJ, Hughes T, Yu B, Masaki K, Petrovitch H, Ross GW, White LR (2010)
    Lowering midlife levels of systolic blood pressure as a public health strategy to reduce late-life dementia: perspective from the Honolulu Heart Program/Honolulu Asia Aging Study
    Hypertension, 55 (6), 1352-9
    DOI 10.1161/HYPERTENSIONAHA.109.147389, PubMed 20404223
  25. Leren IS, Haugaa KH, Edvardsen T, Anfinsen OG, Kongsgård E, Berge KE, Leren TP, Amlie JP (2010)
    [Catecholaminergic polymorphic ventricular tachycardia]
    Tidsskr Nor Laegeforen, 130 (2), 139-42
    DOI 10.4045/tidsskr.09.0529, PubMed 20125202
  26. Lima K, Følling I, Eiklid KL, Natvig S, Abrahamsen TG (2010)
    Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome
    Eur J Pediatr, 169 (8), 983-9
    DOI 10.1007/s00431-010-1161-3, PubMed 20186429
  27. Lundin A, Dietrichs E, Haghighi S, Göller ML, Heiberg A, Loutfi G, Widner H, Wiktorin K, Wiklund L, Svenningsson A, Sonesson C, Waters N, Waters S, Tedroff J (2010)
    Efficacy and safety of the dopaminergic stabilizer Pridopidine (ACR16) in patients with Huntington's disease
    Clin Neuropharmacol, 33 (5), 260-4
    DOI 10.1097/WNF.0b013e3181ebb285, PubMed 20616707
  28. Lyche JL, Nourizadeh-Lillabadi R, Almaas C, Stavik B, Berg V, Skåre JU, Alestrøm P, Ropstad E (2010)
    Natural mixtures of persistent organic pollutants (POP) increase weight gain, advance puberty, and induce changes in gene expression associated with steroid hormones and obesity in female zebrafish
    J Toxicol Environ Health A, 73 (15), 1032-57
    DOI 10.1080/15287394.2010.481618, PubMed 20526952
  29. Manuel A, Li W, Jellus V, Hughes T, Prasad PV (2010)
    Variable flip angle-based fast three-dimensional T1 mapping for delayed gadolinium-enhanced MRI of cartilage of the knee: need for B1 correction
    Magn Reson Med, 65 (5), 1377-83
    DOI 10.1002/mrm.22720, PubMed 21500264
  30. Martinsson K, Skogh T, Mousavi SA, Berg T, Jönsson JI, Hultman P (2010)
    Deficiency of activating Fcγ-receptors reduces hepatic clearance and deposition of IC and increases CIC levels in mercury-induced autoimmunity
    PLoS One, 5 (10), e13413
    DOI 10.1371/journal.pone.0013413, PubMed 20976163
  31. McAreavey D, Vidal JS, Aspelund T, Owens DS, Hughes T, Garcia M, Sigurdsson S, Bjornsdottir H, Harris TB, Gudnason V, Launer LJ, Plehn JF (2010)
    Correlation of echocardiographic findings with cerebral infarction in elderly adults: the AGES-Reykjavik study
    Stroke, 41 (10), 2223-8
    DOI 10.1161/STROKEAHA.110.590430, PubMed 20798368
  32. Mero IL, Ban M, Lorentzen ÅR, Smestad C, Celius EG, Sæther H, Saeedi H, Viken MK, Skinningsrud B, Undlien DE, Aarseth J, Myhr KM, Granum S, Spurkland A, Sawcer S, Compston A, Lie BA, Harbo HF (2010)
    Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus
    Genes Immun, 12 (3), 191-8
    DOI 10.1038/gene.2010.59, PubMed 21179112
  33. Mitra AV, Bancroft EK, Barbachano Y, Page EC, Foster CS, Jameson C, Mitchell G, Lindeman GJ, Stapleton A, Suthers G, Evans DG, Cruger D, Blanco I, Mercer C, Kirk J, Maehle L, Hodgson S, Walker L, Izatt L, Douglas F, Tucker K, Dorkins H, Clowes V, Male A, Donaldson A et al. (2010)
    Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study
    BJU Int, 107 (1), 28-39
    DOI 10.1111/j.1464-410X.2010.09648.x, PubMed 20840664
  34. Munthe-Kaas MC, Torjussen TM, Gervin K, Lødrup Carlsen KC, Carlsen KH, Granum B, Hjorthaug HS, Undlien D, Lyle R (2010)
    CD14 polymorphisms and serum CD14 levels through childhood: a role for gene methylation?
    J Allergy Clin Immunol, 125 (6), 1361-8
    DOI 10.1016/j.jaci.2010.02.010, PubMed 20398919
  35. Møller P, Mæhle L, Engebretsen LF, Ludvigsen T, Jonsrud C, Apold J, Vabø A, Clark N (2010)
    High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series
    Hered Cancer Clin Pract, 8 (1), 2
    DOI 10.1186/1897-4287-8-2, PubMed 20180971
  36. Möller T, Leren TP, Eiklid KL, Holmstrøm H, Fredriksen PM, Thaulow E (2010)
    A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects
    Scand Cardiovasc J, 44 (6), 331-6
    DOI 10.3109/14017431.2010.525747, PubMed 21070126
  37. Nordestgaard BG, Kontula K, Benn M, Dahlöf B, de Faire U, Edelman JM, Eliasson E, Fyhrquist F, Hille DA, Ibsen H, Lyle PA, Berg K, Sandberg M, Sethi AA, Wong PH, Os I (2010)
    Effect of ACE insertion/deletion and 12 other polymorphisms on clinical outcomes and response to treatment in the LIFE study
    Pharmacogenet Genomics, 20 (2), 77-85
    DOI 10.1097/FPC.0b013e328333f70b, PubMed 20065889
  38. Orth M, European Huntington's Disease Network, Handley OJ, Schwenke C, Dunnett S, Wild EJ, Tabrizi SJ, Landwehrmeyer GB (2010)
    Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY
    J Neurol Neurosurg Psychiatry, 82 (12), 1409-12
    DOI 10.1136/jnnp.2010.209668, PubMed 21097549
  39. Roslev P, Bukh AS, Iversen L, Sønderbo H, Iversen N (2010)
    Application of mussels as biosamplers for characterization of faecal pollution in coastal recreational waters
    Water Sci Technol, 62 (3), 586-93
    DOI 10.2166/wst.2010.910, PubMed 20706005
  40. Rødningen OK, Prescott TE, Hovland R, Eiklid K, Houge G (2010)
    [Determination of chromosome aberrations with the help of DNA arrays]
    Tidsskr Nor Laegeforen, 130 (9), 944-7
    DOI 10.4045/tidsskr.10.0101, PubMed 20453958
  41. Saetre P, Lundmark P, Wang A, Hansen T, Rasmussen HB, Djurovic S, Melle I, Andreassen OA, Werge T, Agartz I, Hall H, Terenius L, Jönsson EG (2010)
    The tryptophan hydroxylase 1 (TPH1) gene, schizophrenia susceptibility, and suicidal behavior: a multi-centre case-control study and meta-analysis
    Am J Med Genet B Neuropsychiatr Genet, 153B (2), 387-396
    DOI 10.1002/ajmg.b.30991, PubMed 19526457
  42. Sandve SR, Rudi H, Dorum G, Vigeland MD, Berg PR, Rognli OA (2010)
    Genotyping Unknown Genomic Terrain in Complex Plant Genomes
    SUSTAINABLE USE OF GENETIC DIVERSITY IN FORAGE AND TURF BREEDING, 455-+
  43. Sanner H, Kirkhus E, Merckoll E, Tollisen A, Røisland M, Lie BA, Taraldsrud E, Gran JT, Flatø B (2010)
    Long-term muscular outcome and predisposing and prognostic factors in juvenile dermatomyositis: A case-control study
    Arthritis Care Res (Hoboken), 62 (8), 1103-11
    DOI 10.1002/acr.20203, PubMed 20506141
  44. Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Pušeljić S, Zenker M, Cormier-Daire V, Hennekam RC (2010)
    Phenotype and natural history in Marshall-Smith syndrome
    Am J Med Genet A, 152A (11), 2714-26
    DOI 10.1002/ajmg.a.33709, PubMed 20949508
  45. Siem G, Fagerheim T, Jonsrud C, Laurent C, Teig E, Harris S, Leren TP, Früh A, Heimdal K (2010)
    Causes of hearing impairment in the Norwegian paediatric cochlear implant program
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