Biomedical research at Oslo University Hospital

Oslo University Hospital is a merger of three former university hospitals in Oslo. Biomedical research is one of the hospital's core activities. Research at the hospital is closely interlinked with research undertaken at the University of Oslo. More than 50% of all biomedical research in Norway is published by researchers affiliated with the hospital. Research undertaken cover both basic research, translational research, and clinical research.

Oslo University Hospital has a central role in developing and supporting biomedical research within the South-Eastern Regional Health Authority. The hospital also pursues international research collaborations.

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Summary of publications:

Publications (original articles or review articles) published in 2018 from OUS - Department of Medical Genetics

97 publications found

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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