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Publications (original articles or review articles) published in 2013 from OUS - Department of Medical Genetics

76 publications found

Afzalov R, Pryazhnikov E, Shih PY, Kondratskaya E, Zobova S, Leino S, Salminen O, Khiroug L, Semyanov A (2013)
Low micromolar Ba(2+) potentiates glutamate transporter current in hippocampal astrocytes
Front Cell Neurosci, 7, 135
DOI 10.3389/fncel.2013.00135, PubMed 24009556

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

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

Berge KE, Leren TP (2013)
Genetics of hypertrophic cardiomyopathy in Norway
Clin Genet, 86 (4), 355-60
DOI 10.1111/cge.12286, PubMed 24111713

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

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

Chen P, Gan Y, Han N, Fang W, Li J, Zhao F, Hu K, Rayner S (2013)
Computational evolutionary analysis of the overlapped surface (S) and polymerase (P) region in hepatitis B virus indicates the spacer domain in P is crucial for survival
PLoS One, 8 (4), e60098
DOI 10.1371/journal.pone.0060098, PubMed 23577084

Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L (2013)
The cardiac phenotype in patients with a CHD7 mutation
Circ Cardiovasc Genet, 6 (3), 248-54
DOI 10.1161/CIRCGENETICS.113.000054, PubMed 23677905

Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ et al. (2013)
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Nat Genet, 45 (9), 984-94
DOI 10.1038/ng.2711, PubMed 23933821

Edvardsen H, Landmark-Høyvik H, Reinertsen KV, Zhao X, Grenaker-Alnæs GI, Nebdal D, Syvänen AC, Rødningen O, Alsner J, Overgaard J, Borresen-Dale AL, Fosså SD, Kristensen VN (2013)
SNP in TXNRD2 associated with radiation-induced fibrosis: a study of genetic variation in reactive oxygen species metabolism and signaling
Int J Radiat Oncol Biol Phys, 86 (4), 791-9
DOI 10.1016/j.ijrobp.2013.02.025, PubMed 23597419

Egeland T, Pinto N, Vigeland MD (2013)
A general approach to power calculation for relationship testing
Forensic Sci Int Genet, 9, 186-90
DOI 10.1016/j.fsigen.2013.05.001, PubMed 23810238

Finseth PI, Sønderby IE, Djurovic S, Agartz I, Malt UF, Melle I, Morken G, Andreassen OA, Vaaler AE, Tesli M (2013)
Association analysis between suicidal behaviour and candidate genes of bipolar disorder and schizophrenia
J Affect Disord, 163, 110-4
DOI 10.1016/j.jad.2013.12.018, PubMed 24461634

Gamage TH, Misceo D, Fannemel M, Frengen E (2013)
A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy
Eur J Med Genet, 56 (7), 361-4
DOI 10.1016/j.ejmg.2013.04.005, PubMed 23664928

Geisler J, Bachmann IM, Nyakas M, Helsing P, Fjøsne HE, Mæhle LO, Aamdal S, Eide NA, Svendsen HL, Straume O, Robsahm TE, Jacobsen KD, Akslen LA (2013)
Malignant melanoma--diagnosis, treatment and follow-up in Norway
Tidsskr Nor Laegeforen, 133 (20), 2154-9
DOI 10.4045/tidsskr.12.1416, PubMed 24172628

Guo Z, Tao X, Yin C, Han N, Yu J, Li H, Liu H, Fang W, Adams J, Wang J, Liang G, Tang Q, Rayner S (2013)
National borders effectively halt the spread of rabies: the current rabies epidemic in China is dislocated from cases in neighboring countries
PLoS Negl Trop Dis, 7 (1), e2039
DOI 10.1371/journal.pntd.0002039, PubMed 23383359

Hagen AI, Mæhle L, Vedå N, Vetti HH, Stormorken A, Ludvigsen T, Guntvedt B, Isern AE, Schlichting E, Kleppe G, Bofin A, Gullestad HP, Møller P (2013)
Risk reducing mastectomy, breast reconstruction and patient satisfaction in Norwegian BRCA1/2 mutation carriers
Breast, 23 (1), 38-43
DOI 10.1016/j.breast.2013.10.002, PubMed 24210736

Hasselberg NE, Edvardsen T, Petri H, Berge KE, Leren TP, Bundgaard H, Haugaa KH (2013)
Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects
Europace, 16 (4), 563-71
DOI 10.1093/europace/eut291, PubMed 24058181

Helle JR, Barøy T, Misceo D, Braaten Ø, Fannemel M, Frengen E (2013)
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression
Am J Med Genet A, 161A (5), 1137-42
DOI 10.1002/ajmg.a.35823, PubMed 23463539

Holm I, Monclair T, Lundar T, Stadheim B, Prescott TE, Eiklid KL (2013)
A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome
Gene, 518 (2), 457-60
DOI 10.1016/j.gene.2013.01.029, PubMed 23370340

Holven KB, Retterstøl K, Ueland T, Ulven SM, Nenseter MS, Sandvik M, Narverud I, Berge KE, Ose L, Aukrust P, Halvorsen B (2013)
Subjects with low plasma HDL cholesterol levels are characterized by an inflammatory and oxidative phenotype
PLoS One, 8 (11), e78241
DOI 10.1371/journal.pone.0078241, PubMed 24244297

Horn MA, Retterstøl L, Abdelnoor M, Skjeldal OH, Tallaksen CM (2013)
Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance
Pediatr Neurol, 48 (3), 212-9
DOI 10.1016/j.pediatrneurol.2012.12.007, PubMed 23419472

Huang Y, Tang Q, Rayner S, Gong K, Song B, Liang GD (2013)
Pathogenicity of rabies viruses isolated in China: two fixed strains and a street strain
Biomed Environ Sci, 26 (7), 552-61
DOI 10.3967/0895-3988.2013.07.006, PubMed 23895700

International Genetics of Ankylosing Spondylitis Consortium (IGAS), Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, 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 et al. (2013)
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
Nat Genet, 45 (7), 730-8
DOI 10.1038/ng.2667, PubMed 23749187

International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M et al. (2013)
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Nat Genet, 45 (11), 1353-60
DOI 10.1038/ng.2770, PubMed 24076602

Irgens HU, Molnes J, Johansson BB, Ringdal M, Skrivarhaug T, Undlien DE, Søvik O, Joner G, Molven A, Njølstad PR (2013)
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry
Diabetologia, 56 (7), 1512-9
DOI 10.1007/s00125-013-2916-y, PubMed 23624530

Lekva T, Berg JP, Lyle R, Heck A, Ringstad G, Olstad OK, Michelsen AE, Casar-Borota O, Bollerslev J, Ueland T (2013)
Epithelial splicing regulator protein 1 and alternative splicing in somatotroph adenomas
Endocrinology, 154 (9), 3331-43
DOI 10.1210/en.2013-1051, PubMed 23825128

Li L, Han N, Lu J, Li T, Zhong X, Wu H, Rayner S, Chen L, Liu Y, Wang X, Li H, Li J (2013)
Genetic characterization and transmitted drug resistance of the HIV type 1 epidemic in men who have sex with men in Beijing, China
AIDS Res Hum Retroviruses, 29 (3), 633-7
DOI 10.1089/aid.2012.0281, PubMed 23121221

Lund C, Brodtkorb E, Røsby O, Rødningen OK, Selmer KK (2013)
Copy number variants in adult patients with Lennox-Gastaut syndrome features
Epilepsy Res, 105 (1-2), 110-7
DOI 10.1016/j.eplepsyres.2013.01.009, PubMed 23415449

Lærum H, Bremer S, Bergan S, Grünfeld T (2013)
A taste of individualized medicine: physicians' reactions to automated genetic interpretations
J Am Med Inform Assoc, 21 (e1), e143-6
DOI 10.1136/amiajnl-2012-001587, PubMed 24001515

Maehlen MT, Olsen IC, Andreassen BK, Viken MK, Jiang X, Alfredsson L, Källberg H, Brynedal B, Kurreeman F, Daha N, Toes R, Zhernakova A, Gutierrez-Achury J, de Bakker PI, Martin J, Teruel M, Gonzalez-Gay MA, Rodríguez-Rodríguez L, Balsa A, Uhlig T, Kvien TK, Lie BA (2013)
Genetic risk scores and number of autoantibodies in patients with rheumatoid arthritis
Ann Rheum Dis, 74 (4), 762-8
DOI 10.1136/annrheumdis-2013-204173, PubMed 24336335

Maehlen MT, Provan SA, de Rooy DP, van der Helm-van Mil AH, Krabben A, Saxne T, Lindqvist E, Semb AG, Uhlig T, van der Heijde D, Mero IL, Olsen IC, Kvien TK, Lie BA (2013)
Associations between APOE genotypes and disease susceptibility, joint damage and lipid levels in patients with rheumatoid arthritis
PLoS One, 8 (4), e60970
DOI 10.1371/journal.pone.0060970, PubMed 23613766

Mero IL, Gustavsen MW, Sæther HS, Flåm ST, Berg-Hansen P, Søndergaard HB, Jensen PE, Berge T, Bjølgerud A, Muggerud A, Aarseth JH, International Multiple Sclerosis Genetics Consortium, Myhr KM, Celius EG, Sellebjerg F, Hillert J, Alfredsson L, Olsson T, Oturai AB, Kockum I, Lie BA, Andreassen BK, Harbo HF (2013)
Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles
PLoS One, 8 (3), e58352
DOI 10.1371/journal.pone.0058352, PubMed 23472185

Monclair T, Lundar T, Smevik B, Holm I, Ørstavik KH (2013)
Currarino syndrome at Rikshospitalet 1961-2012
Tidsskr Nor Laegeforen, 133 (22), 2364-8
DOI 10.4045/tidsskr.13.0352, PubMed 24287836

Møller P, Stormorken A, Jonsrud C, Holmen MM, Hagen AI, Clark N, Vabø A, Sun P, Narod SA, Mæhle L (2013)
Survival of patients with BRCA1-associated breast cancer diagnosed in an MRI-based surveillance program
Breast Cancer Res Treat, 139 (1), 155-61
DOI 10.1007/s10549-013-2540-z, PubMed 23615785

Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N et al. (2013)
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
Hum Genet, 133 (5), 625-38
DOI 10.1007/s00439-013-1403-3, PubMed 24326587

Nakasone ES, Askautrud HA, Egeblad M (2013)
Live imaging of drug responses in the tumor microenvironment in mouse models of breast cancer
J Vis Exp (73), e50088
DOI 10.3791/50088, PubMed 23542634

Nordang GB, Flåm ST, Maehlen MT, Kvien TK, Viken MK, Lie BA (2013)
HLA-C alleles confer risk for anti-citrullinated peptide antibody-positive rheumatoid arthritis independent of HLA-DRB1 alleles
Rheumatology (Oxford), 52 (11), 1973-82
DOI 10.1093/rheumatology/ket252, PubMed 23901134

Nordstrøm M, Hansen BH, Paus B, Kolset SO (2013)
Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome
Res Dev Disabil, 34 (12), 4395-403
DOI 10.1016/j.ridd.2013.09.021, PubMed 24139709

Omair A, Holden M, Lie BA, Reikeras O, Brox JI (2013)
Treatment outcome of chronic low back pain and radiographic lumbar disc degeneration are associated with inflammatory and matrix degrading gene variants: a prospective genetic association study
BMC Musculoskelet Disord, 14, 105
DOI 10.1186/1471-2474-14-105, PubMed 23522322

Pan X, Li XJ, Liu XJ, Yuan H, Li JF, Duan YL, Ye HQ, Fu YR, Qiao GH, Wu CC, Yang B, Tian XH, Hu KH, Miao LF, Chen XL, Zheng J, Rayner S, Schwartz PH, Britt WJ, Xu J, Luo MH (2013)
Later passages of neural progenitor cells from neonatal brain are more permissive for human cytomegalovirus infection
J Virol, 87 (20), 10968-79
DOI 10.1128/JVI.01120-13, PubMed 23903847

Papathomas TG, Gaal J, Corssmit EP, Oudijk L, Korpershoek E, Heimdal K, Bayley JP, Morreau H, van Dooren M, Papaspyrou K, Schreiner T, Hansen T, Andresen PA, Restuccia DF, van Kessel I, van Leenders GJ, Kros JM, Looijenga LH, Hofland LJ, Mann W, van Nederveen FH, Mete O, Asa SL, de Krijger RR, Dinjens WN (2013)
Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis
Eur J Endocrinol, 170 (1), 1-12
DOI 10.1530/EJE-13-0623, PubMed 24096523

Pareek M, Pedersen RL, Leren TP, Jensen HK (2013)
[Weight loss pills purchased on the internet as the cause of ventricular fibrillation]
Ugeskr Laeger, 175 (11), 739-40
PubMed 23480888

Paulsson K, Forestier E, Andersen MK, Autio K, Barbany G, Borgström G, Cavelier L, Golovleva I, Heim S, Heinonen K, Hovland R, Johannsson JH, Kjeldsen E, Nordgren A, Palmqvist L, Johansson B, Nordic Society of Pediatric Hematology and Oncology (NOPHO), Swedish Cytogenetic Leukemia Study Group (SCLSG), NOPHO Leukemia Cytogenetic Study Group (NLCSG) (2013)
High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols
Haematologica, 98 (9), 1424-32
DOI 10.3324/haematol.2013.085852, PubMed 23645689

Pedurupillay CR, Misceo D, Gamage TH, Dissanayake VH, Frengen E (2013)
Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay
Gene, 533 (1), 403-10
DOI 10.1016/j.gene.2013.09.090, PubMed 24095780

Peña-Diaz J, Hegre SA, Anderssen E, Aas PA, Mjelle R, Gilfillan GD, Lyle R, Drabløs F, Krokan HE, Sætrom P (2013)
Transcription profiling during the cell cycle shows that a subset of Polycomb-targeted genes is upregulated during DNA replication
Nucleic Acids Res, 41 (5), 2846-56
DOI 10.1093/nar/gks1336, PubMed 23325852

Prescott T, Redfors M, Rustad CF, Eiklid KL, Geirdal AØ, Storhaug K, Jensen JL (2013)
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life
Eur J Med Genet, 56 (3), 131-7
DOI 10.1016/j.ejmg.2012.12.008, PubMed 23298620

Ramm-Pettersen A, Nakken KO, Skogseid IM, Randby H, Skei EB, Bindoff LA, Selmer KK (2013)
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study
Dev Med Child Neurol, 55 (5), 440-7
DOI 10.1111/dmcn.12096, PubMed 23448551

Redfors M, Jensen JL, Storhaug K, Prescott T, Larheim TA (2013)
Cherubism: panoramic and CT features in adults
Dentomaxillofac Radiol, 42 (10), 20130034
DOI 10.1259/dmfr.20130034, PubMed 24048692

Renault NK, Pritchett SM, Howell RE, Greer WL, Sapienza C, Ørstavik KH, Hamilton DC (2013)
Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice
Eur J Hum Genet, 21 (12), 1396-402
DOI 10.1038/ejhg.2013.84, PubMed 23652377

Rolseth V, Krokeide SZ, Kunke D, Neurauter CG, Suganthan R, Sejersted Y, Hildrestrand GA, Bjørås M, Luna L (2013)
Loss of Neil3, the major DNA glycosylase activity for removal of hydantoins in single stranded DNA, reduces cellular proliferation and sensitizes cells to genotoxic stress
Biochim Biophys Acta, 1833 (5), 1157-64
DOI 10.1016/j.bbamcr.2012.12.024, PubMed 23305905

Segev Y, Iqbal J, Lubinski J, Gronwald J, Lynch HT, Moller P, Ghadirian P, Rosen B, Tung N, Kim-Sing C, Foulkes WD, Neuhausen SL, Senter L, Singer CF, Karlan B, Ping S, Narod SA, Hereditary Breast Cancer Study Group (2013)
The incidence of endometrial cancer in women with BRCA1 and BRCA2 mutations: an international prospective cohort study
Gynecol Oncol, 130 (1), 127-31
DOI 10.1016/j.ygyno.2013.03.027, PubMed 23562522

Serrano A, Márquez A, Mackie SL, Carmona FD, Solans R, Miranda-Filloy JA, Hernández-Rodríguez J, Cid MC, Castañeda S, Morado IC, Narváez J, Blanco R, Sopeña B, García-Villanueva MJ, Monfort J, Ortego-Centeno N, Unzurrunzaga A, Marí-Alfonso B, Sánchez Martín J, de Miguel E, Magro C, Raya E, UK GCA Consortium, Spanish GCA Consortium, Braun N et al. (2013)
Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis
Ann Rheum Dis, 72 (11), 1882-1886
DOI 10.1136/annrheumdis-2013-203641, PubMed 23946333

Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN (2013)
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops
PLoS One, 8 (9), e75770
DOI 10.1371/journal.pone.0075770, PubMed 24086631

Stavik B, Tinholt M, Sletten M, Skretting G, Sandset PM, Iversen N (2013)
TFPIα and TFPIβ are expressed at the surface of breast cancer cells and inhibit TF-FVIIa activity
J Hematol Oncol, 6, 5
DOI 10.1186/1756-8722-6-5, PubMed 23320987

Tao X, Han N, Guo Z, Tang Q, Rayner S, Liang G (2013)
Molecular characterization of China human rabies vaccine strains
Virol Sin, 28 (2), 116-23
DOI 10.1007/s12250-013-3314-9, PubMed 23575734

Tao XY, Tang Q, Rayner S, Guo ZY, Li H, Lang SL, Yin CP, Han N, Fang W, Adams J, Song M, Liang GD (2013)
Molecular phylodynamic analysis indicates lineage displacement occurred in Chinese rabies epidemics between 1949 to 2010
PLoS Negl Trop Dis, 7 (7), e2294
DOI 10.1371/journal.pntd.0002294, PubMed 23875035

Teruel M, McKinney C, Balsa A, Pascual-Salcedo D, Rodriguez-Rodriguez L, Ortiz AM, Gómez-Vaquero C, González-Gay MA, Smith M, Witte T, Merriman T, Lie BA, Martin J (2013)
Association of CD247 polymorphisms with rheumatoid arthritis: a replication study and a meta-analysis
PLoS One, 8 (7), e68295
DOI 10.1371/journal.pone.0068295, PubMed 23861880

Tesli M, Egeland R, Sønderby IE, Haukvik UK, Bettella F, Hibar DP, Thompson PM, Rimol LM, Melle I, Agartz I, Djurovic S, Andreassen OA (2013)
No evidence for association between bipolar disorder risk gene variants and brain structural phenotypes
J Affect Disord, 151 (1), 291-7
DOI 10.1016/j.jad.2013.06.008, PubMed 23820096

Tesli M, Skatun KC, Ousdal OT, Brown AA, Thoresen C, Agartz I, Melle I, Djurovic S, Jensen J, Andreassen OA (2013)
CACNA1C risk variant and amygdala activity in bipolar disorder, schizophrenia and healthy controls
PLoS One, 8 (2), e56970
DOI 10.1371/journal.pone.0056970, PubMed 23437284

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M et al. (2013)
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Nat Genet, 46 (2), 107-115
DOI 10.1038/ng.2854, PubMed 24362816

Torjussen TM, Munthe-Kaas MC, Mowinckel P, Carlsen KH, Undlien DE, Lødrup Carlsen KC (2013)
Childhood lung function and the association with β2-adrenergic receptor haplotypes
Acta Paediatr, 102 (7), 727-31
DOI 10.1111/apa.12221, PubMed 23463918

Tveten K, Str M TB, Berge KE, Leren TP (2013)
PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment
J Lipid Res, 54 (6), 1560-1566
DOI 10.1194/jlr.M034371, PubMed 23509406

Valentini A, Lubinski J, Byrski T, Ghadirian P, Moller P, Lynch HT, Ainsworth P, Neuhausen SL, Weitzel J, Singer CF, Olopade OI, Saal H, Lyonnet DS, Foulkes WD, Kim-Sing C, Manoukian S, Zakalik D, Armel S, Senter L, Eng C, Grunfeld E, Chiarelli AM, Poll A, Sun P, Narod SA et al. (2013)
The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation
Breast Cancer Res Treat, 142 (1), 177-85
DOI 10.1007/s10549-013-2729-1, PubMed 24136669

Vang T, Landskron J, Viken MK, Oberprieler N, Torgersen KM, Mustelin T, Tasken K, Tautz L, Rickert RC, Lie BA (2013)
The autoimmune-predisposing variant of lymphoid tyrosine phosphatase favors T helper 1 responses
Hum Immunol, 74 (5), 574-85
DOI 10.1016/j.humimm.2012.12.017, PubMed 23333624

Vasen HF, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, Bernstein I, Bertario L, Burn J, Capella G, Colas C, Engel C, Frayling IM, Genuardi M, Heinimann K, Hes FJ, Hodgson SV, Karagiannis JA, Lalloo F, Lindblom A, Mecklin JP, Møller P, Myrhoj T, Nagengast FM, Parc Y et al. (2013)
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
Gut, 62 (6), 812-23
DOI 10.1136/gutjnl-2012-304356, PubMed 23408351

Vaysburd M, Watkinson RE, Cooper H, Reed M, O'Connell K, Smith J, Cruickshanks J, James LC (2013)
Intracellular antibody receptor TRIM21 prevents fatal viral infection
Proc Natl Acad Sci U S A, 110 (30), 12397-401
DOI 10.1073/pnas.1301918110, PubMed 23840060

Vigeland MD, Spannagl M, Asp T, Paina C, Rudi H, Rognli OA, Fjellheim S, Sandve SR (2013)
Evidence for adaptive evolution of low-temperature stress response genes in a Pooideae grass ancestor
New Phytol, 199 (4), 1060-1068
DOI 10.1111/nph.12337, PubMed 23701123

Wang L, Wu H, Tao X, Li H, Rayner S, Liang G, Tang Q (2013)
Genetic and evolutionary characterization of RABVs from China using the phosphoprotein gene
Virol J, 10, 14
DOI 10.1186/1743-422X-10-14, PubMed 23294868

Wangensteen T, Retterstøl L, Rødningen OK, Hjelmesaeth J, Aukrust P, Halvorsen B (2013)
De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability
Am J Med Genet A, 161A (6), 1480-6
DOI 10.1002/ajmg.a.35927, PubMed 23637016

Weedon-Fekjær MS, Sheng Y, Herse F, Lyle R, Sugulle M, Dechend R, Staff AC (2013)
OP008. Different dysregulation of placental mirnas in early- and late-onset preeclampsia
Pregnancy Hypertens, 3 (2), 65
DOI 10.1016/j.preghy.2013.04.024, PubMed 26105854

Wu H, Wang L, Tao X, Li H, Rayner S, Liang G, Tang Q (2013)
Genetic diversity and molecular evolution of the rabies virus matrix protein gene in China
Infect Genet Evol, 16, 248-53
DOI 10.1016/j.meegid.2013.02.009, PubMed 23453987

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

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

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

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

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