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 2015 from OUS - Department of Medical Genetics

66 publications found

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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