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Publications (original articles or review articles) published in 2016 from OUS - Department of Medical Genetics

83 publications found

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
PubMed 27694991

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
PubMed 26999003

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
PubMed 26999742

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
PubMed 27124303

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
Brain Behav Immun, 61, 209-216
PubMed 27890662

Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D (2016)
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
Eur J Med Genet, 59 (6-7), 342-6
PubMed 27182039

Beulig F, Urich T, Nowak M, Trumbore SE, Gleixner G, Gilfillan GD, Fjelland KE, Küsel K (2016)
Altered carbon turnover processes and microbiomes in soils under long-term extremely high CO2 exposure
Nat Microbiol, 1, 15025
PubMed 27571979

Carmona FD, Vaglio A, Mackie SL, Hernández-Rodríguez J, Monach PA, Castañeda S, Solans R, Morado IC, Narváez J, Ramentol-Sintas M, Pease CT, Dasgupta B, Watts R, Khalidi N, Langford CA, Ytterberg S, Boiardi L, Beretta L, Govoni M, Emmi G, Bonatti F, Cimmino MA, Witte T, Neumann T, Holle J et al. (2016)
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
Am J Hum Genet, 100 (1), 64-74
PubMed 28041642

Cui XY, Tinholt M, Stavik B, Dahm AE, Kanse S, Jin Y, Seidl S, Sahlberg KK, Iversen N, Skretting G, Sandset PM (2016)
Effect of hypoxia on tissue factor pathway inhibitor expression in breast cancer
J Thromb Haemost, 14 (2), 387-96
PubMed 26598923

Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG (2016)
Expanding the genotypic spectrum of Perrault syndrome
Clin Genet, 91 (2), 302-312
PubMed 26970254

Dominguez-Valentin M, Gras Navarro A, Rahman AM, Kumar S, Retière C, Ulvestad E, Kristensen V, Lund-Johansen M, Lie BA, Enger PØ, Njølstad G, Kristoffersen E, Lie SA, Chekenya M (2016)
Identification of a Natural Killer Cell Receptor Allele That Prolongs Survival of Cytomegalovirus-Positive Glioblastoma Patients
Cancer Res, 76 (18), 5326-36
PubMed 27406829

Evans DG, Harkness EF, Howell A, Wilson M, Hurley E, Holmen MM, Tharmaratnam KU, Hagen AI, Lim Y, Maxwell AJ, Moller P (2016)
Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality
Hered Cancer Clin Pract, 14, 8
PubMed 27087880

Falk A, Heine VM, Harwood AJ, Sullivan PF, Peitz M, Brüstle O, Shen S, Sun YM, Glover JC, Posthuma D, Djurovic S (2016)
Modeling psychiatric disorders: from genomic findings to cellular phenotypes
Mol Psychiatry, 21 (9), 1167-79
PubMed 27240529

Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (4), 359-63
PubMed 26820108

Gabrielsen IS, Amundsen SS, Helgeland H, Flåm ST, Hatinoor N, Holm K, Viken MK, Lie BA (2016)
Genetic risk variants for autoimmune diseases that influence gene expression in thymus
Hum Mol Genet, 25 (14), 3117-3124
PubMed 27199374

Gabrielsen IS, Viken MK, Amundsen SS, Helgeland H, Holm K, Flåm ST, Lie BA (2016)
Autoimmune risk variants in ERAP2 are associated with gene-expression levels in thymus
Genes Immun, 17 (7), 406-411
PubMed 27829666

Gervin K, Andreassen BK, Hjorthaug HS, Carlsen KCL, Carlsen KH, Undlien DE, Lyle R, Munthe-Kaas MC (2016)
Intra-individual changes in DNA methylation not mediated by cell-type composition are correlated with aging during childhood
Clin Epigenetics, 8, 110
PubMed 27785156

Gervin K, Page CM, Aass HC, Jansen MA, Fjeldstad HE, Andreassen BK, Duijts L, van Meurs JB, van Zelm MC, Jaddoe VW, Nordeng H, Knudsen GP, Magnus P, Nystad W, Staff AC, Felix JF, Lyle R (2016)
Cell type specific DNA methylation in cord blood: A 450K-reference data set and cell count-based validation of estimated cell type composition
Epigenetics, 11 (9), 690-698
PubMed 27494297

Goscinski MA, Hole KH, Tønne E, Ryder T, Grøholt KK, Flatmark K (2016)
Fibromatosis in vertical rectus abdominis myocutaneous flap imitating tumor recurrence after surgery for locally advanced rectal cancer: case report
World J Surg Oncol, 14, 63
PubMed 26940557

Gunnarsson B, Jónsdóttir GA, Björnsdóttir G, Konte B, Sulem P, Kristmundsdóttir S, Kehr B, Gústafsson Ó, Helgason H, Iordache PD, Ólafsson S, Frigge ML, Þorleifsson G, Arnarsdóttir S, Stefánsdóttir B, Giegling I, Djurovic S, Sundet KS, Espeseth T, Melle I, Hartmann AM, Thorsteinsdottir U, Kong A, Guðbjartsson DF, Ettinger U et al. (2016)
A sequence variant associating with educational attainment also affects childhood cognition
Sci Rep, 6, 36189
PubMed 27811963

Gustavsen MW, Celius EG, Winsvold BS, Moen SM, Nygaard GO, Berg-Hansen P, Lie BA, Zwart JA, Harbo HF (2016)
Migraine and frequent tension-type headache are not associated with multiple sclerosis in a Norwegian case-control study
Mult Scler J Exp Transl Clin, 2, 2055217316682976
PubMed 28607748

Haram M, Bettella F, Brandt CL, Quintana DS, Nerhus M, Bjella T, Djurovic S, Westlye LT, Andreassen OA, Melle I, Tesli M (2016)
Contribution of oxytocin receptor polymorphisms to amygdala activation in schizophrenia spectrum disorders
BJPsych Open, 2 (6), 353-358
PubMed 27847593

Henriksen EK, Jørgensen KK, Kaveh F, Holm K, Hamm D, Olweus J, Melum E, Chung BK, Eide TJ, Lundin KE, Boberg KM, Karlsen TH, Hirschfield GM, Liaskou E (2016)
Gut and liver T-cells of common clonal origin in primary sclerosing cholangitis-inflammatory bowel disease
J Hepatol, 66 (1), 116-122
PubMed 27647428

Hov JR, Boberg KM, Taraldsrud E, Vesterhus M, Boyadzhieva M, Solberg IC, Schrumpf E, Vatn MH, Lie BA, Molberg Ø, Karlsen TH (2016)
Antineutrophil antibodies define clinical and genetic subgroups in primary sclerosing cholangitis
Liver Int, 37 (3), 458-465
PubMed 27558072

Johannessen J, Nærland T, Bloss C, Rietschel M, Strohmaier J, Gjevik E, Heiberg A, Djurovic S, Andreassen OA (2016)
Parents' attitudes toward genetic research in autism spectrum disorder
Psychiatr Genet, 26 (2), 74-80
PubMed 26867185

Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çağlayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R (2016)
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
Am J Hum Genet, 99 (4), 912-916
PubMed 27616480

Jørgensen SF, Reims HM, Frydenlund D, Holm K, Paulsen V, Michelsen AE, Jørgensen KK, Osnes LT, Bratlie J, Eide TJ, Dahl CP, Holter E, Tronstad RR, Hanevik K, Brattbakk HR, Kaveh F, Fiskerstrand T, Kran AB, Ueland T, Karlsen TH, Aukrust P, Lundin KE, Fevang B (2016)
A Cross-Sectional Study of the Prevalence of Gastrointestinal Symptoms and Pathology in Patients With Common Variable Immunodeficiency
Am J Gastroenterol, 111 (10), 1467-1475
PubMed 27527747

Kaufmann T, Alnæs D, Brandt CL, Doan NT, Kauppi K, Bettella F, Lagerberg TV, Berg AO, Djurovic S, Agartz I, Melle IS, Ueland T, Andreassen OA, Westlye LT (2016)
Task modulations and clinical manifestations in the brain functional connectome in 1615 fMRI datasets
Neuroimage, 147, 243-252
PubMed 27916665

Kaveh F, Baumbusch LO, Nebdal D, Børresen-Dale AL, Lingjærde OC, Edvardsen H, Kristensen VN, Solvang HK (2016)
A systematic comparison of copy number alterations in four types of female cancer
BMC Cancer, 16 (1), 913
PubMed 27876019

Kotsopoulos J, Huzarski T, Gronwald J, Moller P, Lynch HT, Neuhausen SL, Senter L, Demsky R, Foulkes WD, Eng C, Karlan B, Tung N, Singer CF, Sun P, Lubinski J, Narod SA (2016)
Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case-control study
Breast Cancer Res Treat, 155 (2), 365-73
PubMed 26780555

Kotsopoulos J, Huzarski T, Gronwald J, Singer CF, Moller P, Lynch HT, Armel S, Karlan B, Foulkes WD, Neuhausen SL, Senter L, Tung N, Weitzel JN, Eisen A, Metcalfe K, Eng C, Pal T, Evans G, Sun P, Lubinski J, Narod SA, Hereditary Breast Cancer Clinical Study Group (2016)
Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
J Natl Cancer Inst, 109 (1)
PubMed 27601060

Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE et al. (2016)
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
N Engl J Med, 374 (11), 1032-1043
PubMed 26981933

Lee S, Norheim F, Langleite TM, Noreng HJ, Storås TH, Afman LA, Frost G, Bell JD, Thomas EL, Kolnes KJ, Tangen DS, Stadheim HK, Gilfillan GD, Gulseth HL, Birkeland KI, Jensen J, Drevon CA, Holen T, NutriTech Consortium (2016)
Effect of energy restriction and physical exercise intervention on phenotypic flexibility as examined by transcriptomics analyses of mRNA from adipose tissue and whole body magnetic resonance imaging
Physiol Rep, 4 (21)
PubMed 27821717

Lekva T, Lyle R, Roland MC, Friis C, Bianchi DW, Jaffe IZ, Norwitz ER, Bollerslev J, Henriksen T, Ueland T (2016)
Gene expression in term placentas is regulated more by spinal or epidural anesthesia than by late-onset preeclampsia or gestational diabetes mellitus
Sci Rep, 6, 29715
PubMed 27405415

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ et al. (2016)
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Neurology, 86 (23), 2171-8
PubMed 27164704

Leren TP, Strøm TB, Berge KE (2016)
Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene
Mol Genet Metab Rep, 9, 67-70
PubMed 27830118

Lien S, Koop BF, Sandve SR, Miller JR, Kent MP, Nome T, Hvidsten TR, Leong JS, Minkley DR, Zimin A, Grammes F, Grove H, Gjuvsland A, Walenz B, Hermansen RA, von Schalburg K, Rondeau EB, Di Genova A, Samy JK, Olav Vik J, Vigeland MD, Caler L, Grimholt U, Jentoft S, Våge DI et al. (2016)
The Atlantic salmon genome provides insights into rediploidization
Nature, 533 (7602), 200-5
PubMed 27088604

Lund C, Striano P, Sorte HS, Parisi P, Iacomino M, Sheng Y, Vigeland MD, Øye AM, Møller RS, Selmer KK, Zara F (2016)
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome
Mol Syndromol, 7 (4), 234-238
PubMed 27781033

Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A, Holmans PA, Pinto D, Gujral M, Brandler WM, Malhotra D, Wang Z, Fajarado KVF, Maile MS, Ripke S, Agartz I, Albus M, Alexander M, Amin F, Atkins J, Bacanu SA, Belliveau RA, Bergen SE et al. (2016)
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Nat Genet, 49 (1), 27-35
PubMed 27869829

McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F et al. (2016)
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
Am J Hum Genet, 98 (5), 981-992
PubMed 27108798

Mehta D, Tropf FC, Gratten J, Bakshi A, Zhu Z, Bacanu SA, Hemani G, Magnusson PK, Barban N, Esko T, Metspalu A, Snieder H, Mowry BJ, Kendler KS, Yang J, Visscher PM, McGrath JJ, Mills MC, Wray NR, Lee SH, Schizophrenia Working Group of the Psychiatric Genomics Consortium, LifeLines Cohort Study, and TwinsUK, Andreassen OA, Bramon E, Bruggeman R, Buxbaum JD et al. (2016)
Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women
JAMA Psychiatry, 73 (5), 497-505
PubMed 27007234

Moen MN, Fjær R, Hamdani EH, Laerdahl JK, Menchini RJ, Vigeland MD, Sheng Y, Undlien DE, Hassel B, Salih MA, El Khashab HY, Selmer KK, Chaudhry FA (2016)
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
Brain, 139 (Pt 12), 3109-3120
PubMed 27742667

Mundal L, Igland J, Ose L, Holven KB, Veierød MB, Leren TP, Retterstøl K (2016)
Cardiovascular disease mortality in patients with genetically verified familial hypercholesterolemia in Norway during 1992-2013
Eur J Prev Cardiol, 24 (2), 137-144
PubMed 27794106

Mundal L, Veierød MB, Halvorsen T, Holven KB, Ose L, Iversen PO, Tell GS, Leren TP, Retterstøl K (2016)
Cardiovascular disease in patients with genotyped familial hypercholesterolemia in Norway during 1994-2009, a registry study
Eur J Prev Cardiol, 23 (18), 1962-1969
PubMed 27558979

Mäki-Marttunen T, Halnes G, Devor A, Witoelar A, Bettella F, Djurovic S, Wang Y, Einevoll GT, Andreassen OA, Dale AM (2016)
Functional Effects of Schizophrenia-Linked Genetic Variants on Intrinsic Single-Neuron Excitability: A Modeling Study
Biol Psychiatry Cogn Neurosci Neuroimaging, 1 (1), 49-59
PubMed 26949748

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, Jenkins M, Green K, Lalloo F, Sunde L, Mints M et al. (2016)
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database
Gut, 66 (9), 1657-1664
PubMed 27261338

Møllersen L, Moldestad O, Rowe AD, Bjølgerud A, Holm I, Tveterås L, Klungland A, Retterstøl L (2016)
Effects of Anthocyanins on CAG Repeat Instability and Behaviour in Huntington's Disease R6/1 Mice
PLoS Curr, 8
PubMed 27540492

Mørch RH, Dieset I, Færden A, Hope S, Aas M, Nerhus M, Gardsjord ES, Joa I, Morken G, Agartz I, Aukrust P, Djurovic S, Melle I, Ueland T, Andreassen OA (2016)
Inflammatory evidence for the psychosis continuum model
Psychoneuroendocrinology, 67, 189-97
PubMed 26923849

Nordstrom M, Paus B, Retterstol K, Kolset SO (2016)
The prevalence of metabolic risk factors of atherosclerotic cardiovascular disease in Williams syndrome, Prader-Willi syndrome, and Down syndrome
J. Intellect. Dev. Dis., 41 (3), 187-196

Opsahl EM, Brauckhoff M, Schlichting E, Helset K, Svartberg J, Brauckhoff K, Mæhle L, Engebretsen LF, Sigstad E, Grøholt KK, Akslen LA, Jørgensen LH, Varhaug JE, Bjøro T (2016)
A Nationwide Study of Multiple Endocrine Neoplasia Type 2A in Norway: Predictive and Prognostic Factors for the Clinical Course of Medullary Thyroid Carcinoma
Thyroid, 26 (9), 1225-38
PubMed 27400880

Ougland R, Jonson I, Moen MN, Nesse G, Asker G, Klungland A, Larsen E (2016)
Role of ALKBH1 in the Core Transcriptional Network of Embryonic Stem Cells
Cell Physiol Biochem, 38 (1), 173-84
PubMed 26765775

Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P (2016)
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
PubMed 27450922

Pedurupillay CR, Landsend EC, Vigeland MD, Ansar M, Frengen E, Misceo D, Strømme P (2016)
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genes (Basel), 7 (8)
PubMed 27472364

Peng Q, Schork A, Bartsch H, Lo MT, Panizzon MS, 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, Dale AM, Schork NJ, Chen CH (2016)
Conservation of Distinct Genetically-Mediated Human Cortical Pattern
PLoS Genet, 12 (7), e1006143
PubMed 27459196

Pingitore P, Lepore SM, Pirazzi C, Mancina RM, Motta BM, Valenti L, Berge KE, Retterstøl K, Leren TP, Wiklund O, Romeo S (2016)
Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia
J Clin Lipidol, 10 (4), 816-823
PubMed 27578112

Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A (2016)
Two male sibs with severe micrognathia and a missense variant in MED12
Eur J Med Genet, 59 (8), 367-72
PubMed 27286923

Quiles F, Teulé À, Martinussen Tandstad N, Feliubadaló L, Tornero E, Del Valle J, Menéndez M, Salinas M, Wethe Rognlien V, Velasco A, Izquierdo A, Capellá G, Brunet J, Lázaro C (2016)
Identification of a founder BRCA1 mutation in the Moroccan population
Clin Genet, 90 (4), 361-5
PubMed 26864382

Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM (2016)
A founder mutation p.H701P identified as a major cause of SPG7 in Norway
Eur J Neurol, 23 (4), 763-71
PubMed 26756429

Samarakoon PS, Sorte HS, Stray-Pedersen A, Rødningen OK, Rognes T, Lyle R (2016)
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
BMC Genomics, 17, 51
PubMed 26764020

Sarropoulou E, Tsalafouta A, Sundaram AY, Gilfillan GD, Kotoulas G, Papandroulakis N, Pavlidis M (2016)
Transcriptomic changes in relation to early-life events in the gilthead sea bream (Sparus aurata)
BMC Genomics, 17, 506
PubMed 27461489

Skauli N, Wallace S, Chiang SC, Barøy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Strømme P, Frengen E, Misceo D (2016)
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Genes (Basel), 7 (12)
PubMed 27916860

Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, Gibbs RA, Rødningen OK, Lyle R, Lupski JR, Stray-Pedersen A (2016)
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
Mol Genet Genomic Med, 4 (6), 604-616
PubMed 27896283

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
PubMed 26865513

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
PubMed 26826018

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
PubMed 27769162

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
PubMed 27104745

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
PubMed 27909437

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
PubMed 27861775

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
PubMed 27683542

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
PubMed 27252783

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)
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