Seksjon for forsking og utvikling

FoU-seksjonen har som oppgåve å utvikla laboratoriediagnostikk for arvelege sjukdomar og relaterte tilstandar.

​Denne verksemda omfattar blant anna utprøving og etablering av nye metodar og teknologi, ofte i kombinasjon med eksperimentell diagnostikk og langsiktige forskings- og utviklingsprosjekt. Det er eit mål at FoU-arbeidet ved seksjonen skal vera på eit høgt internasjonalt nivå. Viktige forskingsområder er å identifisera  nye genetiske årsakar til monogene sjukdomar og syndromer.


Sjukehusstaben omfattar molekylærbiologar og ingeniørar og  i tillegg har masterstudentar, PhD-stipendiatar og postdoc'er sin hovudarbeidsplass  ved senteret. Det er eit nært samarbeid mellom FoU-seksjonen og Fagområdet for medisinsk genetikk og molekylærmedisin ved Universitetet i Bergen.


FoU-seksjonen har eit breitt fagleg samarbeid lokalt, nasjonalt og internasjonalt, inkludert partnarskap i eit senter for framragande forsking (SFF) (Norwegian Centre for Mental Disorders Research; NORMENT) og tre K.G. Jebsen-sentre for medisinsk forsking (K.G. Jebsen-senter for diabetesforsking, K.G. Jebsen-senter for forsking på nevropsykiatriske tilstandar og K.G. Jebsen-senter for psykoseforsking).

Kontaktinformasjon
Seksjonsleder FoU
Per Knappskog
55 97 54 95

Telefon ekspedisjon
55 97 54 75

Telefaks
55 97 51 41

Adresse
FoU-seksjonen, Senter for medisinsk genetikk og molekylærmedisin
Haukeland universitetssykehus
Postboks 1400
5021 Bergen.

UiB-noden av Norsk genomikk-konsortium (NGC) er samlokalisert med MGM i 6. etasje i Laboratoriebygget.

Se www.genomics.no eller kontakt plattformen på tlf. 55 97 53 26

Publikasjonar

Publikasjonar ved MGM 2017

Publikasjonar der tilsette ved Senter for medisinsk genetikk og molekylærmedisin har delteke

A

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. A genetic association study of CSMD1 and CSMD2 with cognitive function. Brain Behav Immun. 2017 Mar;61:209-216. doi: 10.1016/j.bbi.2016.11.026. Epub 2016 Nov 25. PubMed PMID: 27890662

Augestad MT, Høberg-Vetti H, Bjorvatn C, Sekse RJ. Identifying Needs: a Qualitative Study of women's Experiences Regarding Rapid Genetic Testing for Hereditary Breast and Ovarian Cancer in the DNA BONus Study. J Genet Couns. 2017 Feb;26(1):182-189. doi: 10.1007/s10897-016-9996-z. Epub 2016 Jul 28. PubMed PMID: 27465808; PubMed Central PMCID: PMC5258794. 

Aukrust I, Jansson RW, Bredrup C, Rusaas HE, Berland S, Jørgensen A, Haug MG, Rødahl E, Houge G, Knappskog PM. The intronic ABCA4 c.5461-10T>C variant,frequently seen in patients with Stargardt disease, causes splice defects andreduced ABCA4 protein level. Acta Ophthalmol. 2017 May;95(3):240-246. doi: 10.1111/aos.13273. Epub 2016 Oct 24. PubMed PMID: 27775217.

 

B

Brodwall K, Greve G, Leirgul E, Tell GS, Vollset SE, Øyen N. Recurrence of

congenital heart defects among siblings-a nationwide study. Am J Med Genet A.2017 Jun;173(6):1575-1585. doi: 10.1002/ajmg.a.38237. Epub 2017 Apr 19. PubMed PMID: 28425218.

 

C

Chambers MC, Jagtap PD, Johnson JE, McGowan T, Kumar P, Onsongo G, Guerrero CR, Barsnes H, Vaudel M, Martens L, Grüning B, Cooke IR, Heydarian M, Reddy KL, Griffin TJ. An Accessible Proteogenomics Informatics Resource for Cancer Researchers. Cancer Res. 2017 Nov 1;77(21):e43-e46. doi: 10.1158/0008-5472.CAN-17-0331. PubMed PMID: 29092937; PubMed Central PMCID: PMC5675041. 

Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Clin Genet. 2017 May;91(5):697-707. doi: 10.1111/cge.12861. Epub 2016 Oct 10. PubMed PMID: 27598823.

 

D

Dalva M, El Jellas K, Steine SJ, Johansson BB, Ringdal M, Torsvik J, Immervoll H, Hoem D, Laemmerhirt F, Simon P, Lerch MM, Johansson S, Njølstad PR, Weiss FU,  Fjeld K, Molven A. Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer. Pancreatology. 2017 Jan - Feb;17(1):83-88. doi: 10.1016/j.pan.2016.10.006. Epub 2016 Oct 11. PubMed PMID: 27773618.

 

E

Eikrem Ø, Skrunes R, Tøndel C, Leh S, Houge G, Svarstad E, Marti HP. Pathomechanisms of renal Fabry disease. Cell Tissue Res. 2017 Jul;369(1):53-62. doi: 10.1007/s00441-017-2609-9. Epub 2017 Apr 12.  PubMed PMID: 28401309

El Jellas K, Hoem D, Hagen KG, Kalvenes MB, Aziz S, Steine SJ, Immervoll H, Johansson S, Molven A. Associations between ABO blood groups and pancreatic ductal adenocarcinoma: influence on resection status and survival. Cancer Med. 2017 Jul;6(7):1531-1540. doi: 10.1002/cam4.1097. Epub 2017 May 29. PubMed PMID: 28556564; PubMed Central PMCID: PMC5504338. 

Eriksson D, Dalin F, Eriksson GN, Landegren N, Bianchi M, Hallgren Å, Dahlqvist P, Wahlberg J, Ekwall O, Winqvist O, Catrina SB, Rönnelid J; Swedish Addison Register Study Group, Hulting AL, Lindblad-Toh K, Alimohammadi M, Husebye ES, Knappskog PM, Pielberg GR, Bensing S, Kämpe O. Cytokine autoantibody screening in the Swedish Addison Register identifies patients with undiagnosed APS1. J Clin Endocrinol Metab. 2017 Oct 20. doi: 10.1210/jc.2017-01957. [Epub ahead of print] PubMed PMID: 29069385.

Ersland KM, Skrede S, Stansberg C, Steen VM. Subchronic olanzapine exposure leads to increased expression of myelination-related genes in rat fronto-medial cortex. Transl Psychiatry. 2017 Nov 30;7(11):1262. doi: 10.1038/s41398-017-0008-3. PubMed PMID: 29187753

 

G

Gjerde PB, Dieset I, Simonsen C, Hoseth EZ, Iversen T, Lagerberg TV, Lyngstad SH, Mørch RH, Skrede S, Andreassen OA, Melle I, Steen VM. Increase in serum HDL level is associated with less negative symptoms after one year of antipsychotic treatment in first-episode psychosis. Schizophr Res. 2017 Nov 9. pii: S0920-9964(17)30670-9. doi: 10.1016/j.schres.2017.10.042. [Epub ahead of print] PubMed PMID: 29129510

Grønli J, Meerlo P, Pedersen TT, Pallesen S, Skrede S, Marti AR, Wisor JP, Murison R, Henriksen TE, Rempe MJ, Mrdalj J. A Rodent Model of Night-Shift Work Induces Short-Term and Enduring Sleep and Electroencephalographic Disturbances. J Biol Rhythms. 2017 Feb;32(1):48-63. doi: 10.1177/0748730416675460. Epub 2016 Dec 14. PubMed PMID: 28013579.

 

H

Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. J Med Genet. 2018 Jan;55(1):28-38. doi: 10.1136/jmedgenet-2017-104620. Epub 2017 Oct 11. PubMed PMID: 29021403

Haugarvoll K, Johansson S, Rodriguez CE, Boman H, Haukanes BI, Bruland O, Roque F, Jonassen I, Blomqvist M, Telstad W, Månsson JE, Knappskog PM, Bindoff LA. GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies. PLoS One. 2017 Jan 4;12(1):e0169309. doi: 10.1371/journal.pone.0169309. eCollection 2017. PubMed PMID: 28052128; PubMed Central PMCID: PMC5215700. 

Hibar DP, Adams HHH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC, Arias-Vasquez A, Ikram MK, Desrivières S, Vernooij MW, Abramovic L,Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beecham AH, Beiser A, Bernard M, Blanton SH, Bohlken MM, Boks MP, Bralten J, Brickman AM, Carmichael O, Chakravarty MM, Chen Q, Ching CRK, Chouraki V, Cuellar-Partida G, Crivello F, Den Braber A, Doan NT, Ehrlich S, Giddaluru S, Goldman AL, Gottesman RF, Grimm O, Griswold ME, Guadalupe T, Gutman BA, Hass J, Haukvik UK, Hoehn D, Holmes AJ, Hoogman M, Janowitz D, Jia T, Jørgensen KN, Karbalai N, Kasperaviciute D, Kim S, Klein M, Kraemer B, Lee PH, Liewald DCM, Lopez LM, Luciano M, Macare C, Marquand AF, Matarin M, Mather KA, Mattheisen M, McKay DR, Milaneschi Y, Muñoz Maniega S, Nho K, Nugent AC, Nyquist P, Loohuis LMO, Oosterlaan J, Papmeyer M, Pirpamer L, Pütz B, Ramasamy A, Richards JS, Risacher SL, Roiz-Santiañez R, Rommelse N, Ropele S, Rose EJ, Royle NA, Rundek T, Sämann PG, Saremi A, Satizabal CL, Schmaal L, Schork AJ, Shen L, Shin J, Shumskaya E, Smith AV, Sprooten E, Strike LT, Teumer A, Tordesillas-Gutierrez D, Toro R, Trabzuni D, Trompet S, Vaidya D, Van der Grond J, Van der Lee SJ, Van der Meer D, Van Donkelaar MMJ, Van Eijk KR, Van Erp TGM, Van Rooij D, Walton E, Westlye LT, Whelan CD, Windham BG, Winkler AM, Wittfeld K, Woldehawariat G, Wolf C, Wolfers T, Yanek LR, Yang J, Zijdenbos A, Zwiers MP, Agartz I, Almasy L, Ames D, Amouyel P, Andreassen OA, Arepalli S, Assareh AA, Barral S, Bastin ME, Becker DM, Becker JT, Bennett DA, Blangero J, van Bokhoven H, Boomsma DI, Brodaty H, Brouwer RM, Brunner HG, Buckner RL, Buitelaar JK, Bulayeva KB, Cahn W, Calhoun VD, Cannon DM, Cavalleri GL, Cheng CY, Cichon S, Cookson MR, Corvin A, Crespo-Facorro B, Curran JE, Czisch M, Dale AM, Davies GE, De Craen AJM, De Geus EJC, De Jager PL, De Zubicaray GI, Deary IJ, Debette S, DeCarli C, Delanty N, Depondt C, DeStefano A, Dillman A, Djurovic S, Donohoe G,Drevets WC, Duggirala R, Dyer TD, Enzinger C, Erk S, Espeseth T, Fedko IO,Fernández G, Ferrucci L, Fisher SE, Fleischman DA, Ford I, Fornage M, Foroud TM, Fox PT, Francks C, Fukunaga M, Gibbs JR, Glahn DC, Gollub RL, Göring HHH, Green RC, Gruber O, Gudnason V, Guelfi S, Håberg AK, Hansell NK, Hardy J, Hartman CA, Hashimoto R, Hegenscheid K, Heinz A, Le Hellard S, Hernandez DG, Heslenfeld DJ, Ho BC, Hoekstra PJ, Hoffmann W, Hofman A, Holsboer F, Homuth G, Hosten N, Hottenga JJ, Huentelman M, Hulshoff Pol HE, Ikeda M, Jack CR Jr, Jenkinson M, Johnson R, Jönsson EG, Jukema JW, Kahn RS, Kanai R, Kloszewska I, Knopman DS, Kochunov P, Kwok JB, Lawrie SM, Lemaître H, Liu X, Longo DL, Lopez OL, Lovestone S, Martinez O, Martinot JL, Mattay VS, McDonald C, McIntosh AM, McMahon FJ, McMahon KL, Mecocci P, Melle I, Meyer-Lindenberg A, Mohnke S, Montgomery GW, Morris DW, Mosley TH, Mühleisen TW, Müller-Myhsok B, Nalls MA, Nauck M, Nichols TE, Niessen WJ, Nöthen MM, Nyberg L, Ohi K, Olvera RL, Ophoff RA, Pandolfo M, Paus T, Pausova Z, Penninx BWJH, Pike GB, Potkin SG, Psaty BM, Reppermund S, Rietschel M, Roffman JL, Romanczuk-Seiferth N, Rotter JI, Ryten M, Sacco RL, Sachdev PS, Saykin AJ, Schmidt R, Schmidt H, Schofield PR, Sigursson S, Simmons A, Singleton A, Sisodiya SM, Smith C, Smoller JW, Soininen H, Steen VM, Stott DJ, Sussmann JE, Thalamuthu A, Toga AW, Traynor BJ, Troncoso J, Tsolaki M, Tzourio C, Uitterlinden AG, Hernández MCV, Van der Brug M, van der Lugt A, van der Wee NJA, Van Haren NEM, van 't Ent D, Van Tol MJ, Vardarajan BN, Vellas B, Veltman DJ, Völzke H, Walter H, Wardlaw JM, Wassink TH, Weale ME, Weinberger DR, Weiner MW, Wen W, Westman E, White T, Wong TY, Wright CB, Zielke RH, Zonderman AB, Martin NG, Van Duijn CM, Wright MJ, Longstreth WT, Schumann G, Grabe HJ, Franke B, Launer LJ, Medland SE, Seshadri S, Thompson PM, Ikram MA. Novel genetic loci associated with hippocampal volume. Nat Commun. 2017 Jan 18;8:13624. doi: 10.1038/ncomms13624. PubMed PMID: 28098162; PubMed Central PMCID: PMC5253632. 

Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E,Fiskerstrand T, McFarland R, Rahman S, Bindoff LA. Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease. J Inherit Metab Dis. 2017 Sep 26. doi: 10.1007/s10545-017-0092-9. [Epub ahead of print]PubMed PMID: 28952135

Hikmat O, Charalampos T, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA. The presence of anaemianegatively influences survival in patients with POLG disease. J Inherit MetabDis. 2017 Nov;40(6):861-866. doi: 10.1007/s10545-017-0084-9. Epub 2017 Sep 1. Erratum in: J Inherit Metab Dis. 2017 Sep 26;:. PubMed PMID: 28865037

Håvik AL, Bruland O, Myrseth E, Miletic H, Aarhus M, Knappskog PM, Lund-Johansen M. Genetic landscape of sporadic vestibular schwannoma. J Neurosurg. 2017 Apr 14:1-12. doi: 10.3171/2016.10.JNS161384. [Epub ahead of print] PubMed PMID: 28409725.

 

J

Johansson BB, Irgens HU, Molnes J, Sztromwasser P, Aukrust I, Juliusson PB, Søvik O, Levy S, Skrivarhaug T, Joner G, Molven A, Johansson S, Njølstad PR. Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. Diabetologia. 2017 Apr;60(4):625-635. doi: 10.1007/s00125-016-4167-1. Epub 2016 Dec 2. PubMed PMID: 27913849.

Johansson BB, Fjeld K, El Jellas K, Gravdal A, Dalva M, Tjora E, Ræder H, Kulkarni RN, Johansson S, Njølstad PR, Molven A. The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. Pancreatology. 2017 Dec 5. pii: S1424-3903(17)30890-6. doi: 10.1016/j.pan.2017.12.001. [Epub ahead of print] Review. PubMed PMID: 29233499.

 

K

Kopczynski D, Barsnes H, Njølstad PR, Sickmann A, Vaudel M, Ahrends R. PeptideMapper: efficient and versatile amino acid sequence and tag mapping. Bioinformatics. 2017 Jul 1;33(13):2042-2044. doi:10.1093/bioinformatics/btx122. PubMed PMID: 28334306

Kroksveen AC, Guldbrandsen A, Vaudel M, Lereim RR, Barsnes H, Myhr KM, Torkildsen Ø, Berven FS. In-Depth Cerebrospinal Fluid Quantitative Proteome and Deglycoproteome Analysis: Presenting a Comprehensive Picture of Pathways and Processes Affected by Multiple Sclerosis. J Proteome Res. 2017 Jan 6;16(1):179-194. doi: 10.1021/acs.jproteome.6b00659. Epub 2016 Oct 26. PubMed PMID: 27728768.

 

L

Lam M, Trampush JW, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Chiba-Falek O, Attix DK, Need AC, Cirulli ET, Voineskos AN, Stefanis NC, Avramopoulos D, Hatzimanolis A, Arking DE, Smyrnis N, Bilder RM, Freimer NA, Cannon TD, London E, Poldrack RA,Sabb FW, Congdon E, Conley ED, Scult MA, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri AR, Weinberger DR, Pendleton N, Bitsios P, Rujescu D, Lahti J, Le Hellard S, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Malhotra AK, Lencz T. Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. Cell Rep. 2017 Nov 28;21(9):2597-2613. doi: 10.1016/j.celrep.2017.11.028. PubMed PMID:29186694

Lamers IJC, Reijnders MRF, Venselaar H, Kraus A; DDD Study, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T, Roepman R. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. Am J Hum Genet. 2017 Nov 2;101(5):824-832. doi: 10.1016/j.ajhg.2017.09.015. Epub 2017 Oct 26. PubMed PMID: 29106825; PubMed Central PMCID: PMC5673605. 

Le Hellard S, Wang Y, Witoelar A, Zuber V, Bettella F, Hugdahl K, Espeseth T, Steen VM, Melle I, Desikan R, Schork AJ, Thompson WK, Dale AM, Djurovic S, Andreassen OA; Schizophrenia Working Group of the Psychiatric Genomics Consortium. Identification of Gene Loci That Overlap Between Schizophrenia and Educational Attainment. Schizophr Bull. 2017 May 1;43(3):654-664. doi: 10.1093/schbul/sbw085. PubMed PMID: 27338279; PubMed Central PMCID: PMC5463752. 

 

M

Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet. 2017 Feb 2;100(2):323-333. doi: 10.1016/j.ajhg.2016.12.011. Epub 2017 Jan 12. Erratum in: Am J Hum Genet. 2017 Feb 2;100(2):372. PubMed PMID: 28089251; PubMed Central PMCID: PMC5294754. Maretty L, Jensen JM, Petersen B, Sibbesen JA, Liu S, Villesen P, Skov L, Belling K, Theil Have C, Izarzugaza JMG, Grosjean M, Bork-Jensen J, Grove J, Als TD, Huang S, Chang Y, Xu R, Ye W, Rao J, Guo X, Sun J, Cao H, Ye C, van Beusekom J, Espeseth T, Flindt E, Friborg RM, Halager AE, Le Hellard S, Hultman CM, Lescai F, Li S, Lund O, Løngren P, Mailund T, Matey-Hernandez ML, Mors O, Pedersen CNS, Sicheritz-Pontén T, Sullivan P, Syed A, Westergaard D, Yadav R, Li N, Xu X, Hansen T, Krogh A, Bolund L, Sørensen TIA, Pedersen O, Gupta R, Rasmussen S, Besenbacher S, Børglum AD, Wang J, Eiberg H, Kristiansen K, Brunak S, Schierup MH. Sequencing and de novo assembly of 150 genomes from Denmark as a population reference. Nature. 2017 Aug 3;548(7665):87-91. doi: 10.1038/nature23264. Epub 2017 Jul 26. PubMed PMID: 28746312

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Skrede S, González-García I, Martins L, Berge RK, Nogueiras R, Tena-Sempere M, Mellgren G, Steen VM, López M, Fernø J. Lack of Ovarian Secretions Reverts the Anabolic Action of Olanzapine in Female Rats. Int J Neuropsychopharmacol. 2017 Dec 1;20(12):1005-1012. doi: 10.1093/ijnp/pyx073. PubMed PMID: 29020342; PubMed Central PMCID: PMC5716078. 

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Tronstad RR, Kummen M, Holm K, von Volkmann HL, Anmarkrud JA, Høivik ML, Moum B, Gilja OH, Hausken T, Baines J, Karlsen TH, Fiskerstrand T, Hov JR. Guanylate Cyclase C Activation Shapes the Intestinal Microbiota in Patients with Familial Diarrhea and Increased Susceptibility for Crohn's Disease. Inflamm Bowel Dis. 2017 Oct;23(10):1752-1761. doi: 10.1097/MIB.0000000000001264. PubMed PMID:28902124

Tzoulis C, Sztromwasser P, Johansson S, Gjerde IO, Knappskog P, Bindoff LA. PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum. 2017 Feb;16(1):272-275. doi: 10.1007/s12311-016-0784-y. PubMed PMID: 27165045; PubMed Central PMCID: PMC5243888. 

Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T, Giri A, Graff M, Guo X, Hendricks AE, Karaderi T, Lempradl A, Locke AE, Mahajan A, Marouli E, Sivapalaratnam S, Young KL, Alfred T, Feitosa MF, Masca NGD, Manning AK, Medina-Gomez C, Mudgal P, Ng MCY, Reiner AP, Vedantam S, Willems SM, Winkler TW, Abecasis G, Aben KK, Alam DS, Alharthi SE, Allison M, Amouyel P, Asselbergs FW, Auer PL, Balkau B, Bang LE, Barroso I, Bastarache L, Benn M, Bergmann S, Bielak LF, Blüher M, Boehnke M, Boeing H, Boerwinkle E, Böger CA, Bork-Jensen J, Bots ML, Bottinger EP, Bowden DW, Brandslund I, Breen G, Brilliant MH, Broer L, Brumat M, Burt AA, Butterworth AS, Campbell PT, Cappellani S, Carey DJ, Catamo E, Caulfield MJ, Chambers JC, Chasman DI, Chen YI, Chowdhury R, Christensen C, Chu AY, Cocca M, Collins FS, Cook JP, Corley J, Corominas Galbany  J, Cox AJ, Crosslin DS, Cuellar-Partida G, D'Eustacchio A, Danesh J, Davies G, Bakker PIW, Groot MCH, Mutsert R, Deary IJ, Dedoussis G, Demerath EW, Heijer M, Hollander AI, Ruijter HM, Dennis JG, Denny JC, Angelantonio E, Drenos F, Du M, Dubé MP, Dunning AM, Easton DF, Edwards TL, Ellinghaus D, Ellinor PT, Elliott P, Evangelou E, Farmaki AE, Farooqi IS, Faul JD, Fauser S, Feng S, Ferrannini E, Ferrieres J, Florez JC, Ford I, Fornage M, Franco OH, Franke A, Franks PW, Friedrich N, Frikke-Schmidt R, Galesloot TE, Gan W, Gandin I, Gasparini P, Gibson J, Giedraitis V, Gjesing AP, Gordon-Larsen P, Gorski M, Grabe HJ, Grant SFA, Grarup N, Griffiths HL, Grove ML, Gudnason V, Gustafsson S, Haessler J, Hakonarson H, Hammerschlag AR, Hansen T, Harris KM, Harris TB, Hattersley AT, Have CT, Hayward C, He L, Heard-Costa NL, Heath AC, Heid IM, Helgeland Ø, Hernesniemi J, Hewitt AW, Holmen OL, Hovingh GK, Howson JMM, Hu Y, Huang PL, Huffman JE, Ikram MA, Ingelsson E, Jackson AU, Jansson JH, Jarvik GP, Jensen GB, Jia Y, Johansson S, Jørgensen ME, Jørgensen T, Jukema JW, Kahali B, Kahn RS, Kähönen M, Kamstrup PR, Kanoni S, Kaprio J, Karaleftheri M, Kardia SLR, Karpe F,  Kathiresan S, Kee F, Kiemeney LA, Kim E, Kitajima H, Komulainen P, Kooner JS, Kooperberg C, Korhonen T, Kovacs P, Kuivaniemi H, Kutalik Z, Kuulasmaa K, Kuusisto J, Laakso M, Lakka TA, Lamparter D, Lange EM, Lange LA, Langenberg C, Larson EB, Lee NR, Lehtimäki T, Lewis CE, Li H, Li J, Li-Gao R, Lin H, Lin KH, Lin LA, Lin X, Lind L, Lindström J, Linneberg A, Liu CT, Liu DJ, Liu Y, Lo KS, Lophatananon A, Lotery AJ, Loukola A, Luan J, Lubitz SA, Lyytikäinen LP, Männistö S, Marenne G, Mazul AL, McCarthy MI, McKean-Cowdin R, Medland SE, Meidtner K, Milani L, Mistry V, Mitchell P, Mohlke KL, Moilanen L, Moitry M,Montgomery GW, Mook-Kanamori DO, Moore C, Mori TA, Morris AD, Morris AP, Müller-Nurasyid M, Munroe PB, Nalls MA, Narisu N, Nelson CP, Neville M, Nielsen SF, Nikus K, Njølstad PR, Nordestgaard BG, Nyholt DR, O'Connel JR, O'Donoghue ML, Olde Loohuis LM, Ophoff RA, Owen KR, Packard CJ, Padmanabhan S, Palmer CNA, Palmer ND, Pasterkamp G, Patel AP, Pattie A, Pedersen O, Peissig PL, Peloso GM, Pennell CE, Perola M, Perry JA, Perry JRB, Pers TH, Person TN, Peters A, Petersen ERB, Peyser PA, Pirie A, Polasek O, Polderman TJ, Puolijoki H, Raitakari OT, Rasheed A, Rauramaa R, Reilly DF, Renström F, Rheinberger M, Ridker PM, Rioux JD, Rivas MA, Roberts DJ, Robertson NR, Robino A, Rolandsson O, Rudan I, Ruth KS, Saleheen D, Salomaa V, Samani NJ, Sapkota Y, Sattar N, Schoen RE, Schreiner PJ, Schulze MB, Scott RA, Segura-Lepe MP, Shah SH, Sheu WH, Sim X, Slater AJ, Small KS, Smith AV, Southam L, Spector TD, Speliotes EK, Starr JM, Stefansson K, Steinthorsdottir V, Stirrups KE, Strauch K, Stringham HM, Stumvoll M, Sun L, Surendran P, Swift AJ, Tada H, Tansey KE, Tardif JC, Taylor KD, Teumer A, Thompson DJ, Thorleifsson G, Thorsteinsdottir U, Thuesen BH, Tönjes A, Tromp G, Trompet S, Tsafantakis E, Tuomilehto J, Tybjaerg-Hansen A, Tyrer JP, Uher R, Uitterlinden AG, Uusitupa M, Laan SW, Duijn CM, Leeuwen N, van Setten J, Vanhala M, Varbo A, Varga TV, Varma R, Velez Edwards DR, Vermeulen SH, Veronesi G, Vestergaard H, Vitart V, Vogt TF, Völker U, Vuckovic D, Wagenknecht LE, Walker M, Wallentin L, Wang F, Wang CA, Wang S, Wang Y, Ware EB, Wareham NJ, Warren HR, Waterworth DM, Wessel J, WhiteHD, Willer CJ, Wilson JG, Witte DR, Wood AR, Wu Y, Yaghootkar H, Yao J, Yao P, Yerges-Armstrong LM, Young R, Zeggini E, Zhan X, Zhang W, Zhao JH, Zhao W, Zhou W, Zondervan KT; CHD Exome+ Consortium; EPIC-CVD Consortium; ExomeBP Consortium; Global Lipids Genetic Consortium; GoT2D Genes Consortium; EPIC InterAct Consortium; INTERVAL Study; ReproGen Consortium; T2D-Genes Consortium; MAGIC Investigators; Understanding Society Scientific Group, Rotter JI, Pospisilik JA, Rivadeneira F, Borecki IB, Deloukas P, Frayling TM, Lettre G, North KE, Lindgren CM, Hirschhorn JN, Loos RJF. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat Genet. 2018 Jan;50(1):26-41. doi: 10.1038/s41588-017-0011-x. Epub 2017 Dec 22. PubMed PMID: 29273807.

 

V

Verheggen K, Raeder H, Berven FS, Martens L, Barsnes H, Vaudel M. Anatomy and evolution of database search engines-a central component of mass spectrometry based proteomic workflows. Mass Spectrom Rev. 2017 Sep 13. doi:10.1002/mas.21543. [Epub ahead of print] Review. PubMed PMID: 28902424

Vogelaar IP, van der Post RS, van Krieken JHJ, Spruijt L, van Zelst-Stams WA, Kets CM, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Pinheiro H, Oliveira C, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, de Ligt J, Vissers LELM, Hoischen A, Gilissen C, van de Vorst M, Goeman JJ, Schackert HK, Ranzani GN, Molinaro V, Gómez García EB, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Bjørnevoll I, Høberg-Vetti H, van Kessel AG, Kuiper RP, Ligtenberg MJL, Hoogerbrugge N. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. Eur J Hum Genet. 2017 Nov;25(11):1246-1252. doi:10.1038/ejhg.2017.138. Epub 2017 Sep 6. PubMed PMID: 28875981; PubMed Central PMCID: PMC5643972. 

von Volkmann HL, Brønstad I, Gilja OH, R Tronstad R, Sangnes DA, Nortvedt R, Hausken T, Dimcevski G, Fiskerstrand T, Nylund K. Prolonged intestinal transit and diarrhea in patients with an activating GUCY2C mutation. PLoS One. 2017 Sep 28;12(9):e0185496. doi: 10.1371/journal.pone.0185496. eCollection 2017. PubMed PMID: 28957388;
PubMed Central PMCID: PMC5619782.

Y

Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R,

Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N. Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. Nat Genet. 2017 Jul;49(7):1148-1151. doi: 10.1038/ng.3883. Epub 2017 May 29. PubMed PMID:28553959; PubMed Central PMCID: PMC5493194.

 

Publikasjonar ved MGM 2016

Publikasjonar der tilsette ved Senter for medisinsk genetikk og molekylærmedisin har delteke

Adams HH, Hibar DP, Chouraki V, et al. Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nat Neurosci Oct 03 2016. PubMed PMID: 27694991


Andresen V, Erikstein BS, Mukherjee H, Sulen A, Popa M, Sørnes S, Reikvam H, Chan KP, Hovland R, McCormack E, Bruserud Ø, Myers AG, Gjertsen BT. Anti-proliferative activity of the NPM1 interacting natural product avrainvillamide in acute myeloid leukemia. Cell Death Dis. 2016 Dec 1;7(12):e2497. doi: 10.1038/cddis.2016.392. PubMed PMID: 27906185


Athanasiadis G, Cheng JY, Vilhjalmsson BJ, et al. Nationwide Genomic Study in Denmark Reveals Remarkable Population Homogeneity. Genetics Aug 17 2016. PubMed PMID: 27535931


Athanasiu L, Giddaluru S, Fernandes C, et al. A genetic association study of CSMD1 and CSMD2 with cognitive function. Brain Behav Immun Nov 25 2016. PubMed PMID: 27890662


Augestad MT, Høberg-Vetti H, Bjorvatn C, Sekse RJ. Identifying Needs: a Qualitative Study of women's Experiences Regarding Rapid Genetic Testing for Hereditary Breast and Ovarian Cancer in the DNA BONus Study. J Genet Couns. 2017  Feb;26(1):182-189. doi: 10.1007/s10897-016-9996-z. PubMed PMID: 27465808


Brevik EJ, van Donkelaar MM, Weber H, Sánchez-Mora C, Jacob C, Rivero O, Kittel-Schneider S, Garcia-Martínez I, Aebi M, van Hulzen K, Cormand B, Ramos-Quiroga JA; IMAGE Consortium., Lesch KP, Reif A, Ribasés M,  ranke B, Posserud MB, Johansson S, Lundervold AJ, Haavik J, Zayats T. Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2016 Jul;171(5):733-47. doi: 10.1002/ajmg.b.32434. PubMed PMID: 27021288


Brodwall K, Greve G, Øyen N. Preeclampsia and Congenital Heart Defects. JAMA. 2016 Mar 15;315(11):1167-8. doi: 0.1001/jama.2015.19075. PubMed PMID: 26978216


Brodwall K, Leirgul E, Greve G, Vollset SE, Holmstrøm H, Tell GS, Øyen N. Possible Common Aetiology behind Maternal Preeclampsia and Congenital Heart Defects in the Child: a Cardiovascular Diseases in Norway Project Study. Paediatr Perinat Epidemiol. 2016 Jan;30(1):76-85. doi: 10.1111/ppe.12252. PubMed PMID:26479038


Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA. Defective PITRM1 mitochondrial peptidase is  associated with Aβ amyloidotic neurodegeneration. EMBO Mol Med. 2015 Dec 23;8(3):176-90. doi: 10.15252/emmm.201505894. PubMed PMID: 26697887 


Bruserud Ø, Oftedal BE, Landegren N, Erichsen MM, Bratland E, Lima K, Jørgensen AP, Myhre AG, Svartberg J, Fougner KJ, Bakke Å, Nedrebø BG, Mella B, Breivik L, Viken MK, Knappskog PM, Marthinussen MC, Løvås K, Kämpe O, Wolff AB, Husebye ES. A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. J Clin Endocrinol Metab. 2016 Aug;101(8):2975-83. doi: 10.1210/jc.2016-1821. PubMed PMID: 27253668  


Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Clin Genet. 2016 Sep 6. doi: 10.1111/cge.12861. PubMed PMID: 27598823


Dalva M, El Jellas K, Steine SJ, Johansson BB, Ringdal M, Torsvik J, Immervoll H, Hoem D, Laemmerhirt F, Simon P, Lerch MM, Johansson S, Njølstad PR, Weiss FU, Fjeld K, Molven A. Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer.  Pancreatology. 2016 Oct 11. pii: S1424-3903(16)31222-4. doi: 10.1016/j.pan.2016.10.006. [Epub ahead of print] PubMed PMID: 27773618  


Ding YP, Pedersen EK, Johansson S, Gregory JF 3rd, Ueland PM, Svingen GF, Helgeland Ø, Meyer K, Fredriksen Å, Nygård OK. B vitamin treatments modify the risk of myocardial infarction associated with a MTHFD1 polymorphism in patients with stable angina pectoris. Nutr Metab Cardiovasc Dis. 2016 Jun;26(6):495-501. doi: 10.1016/j.numecd.2015.12.009. PubMed PMID: 26803590 


Egeland GM, Klungsøyr K, Øyen N, Tell GS, Næss Ø, Skjærven R. Preconception Cardiovascular Risk Factor Differences Between Gestational Hypertension and Preeclampsia: Cohort Norway Study. Hypertension. 2016 Jun;67(6):1173-80. doi: 10.1161/HYPERTENSIONAHA.116.07099. PubMed PMID: 27113053


Fjeld K, Beer S, Johnstone M, Zimmer C, Mössner J, Ruffert C, Krehan M, Zapf C, Njølstad PR, Johansson S, Bugert P, Miyajima F, Liloglou T, Brown LJ, Winn SA, Davies K, Latawiec D, Gunson BK, Criddle DN, Pirmohamed M, Grützmann R, Michl P,  Greenhalf W, Molven A, Sutton R, Rosendahl J. Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL) Gene May Confer Susceptibility  to Alcoholic Liver Cirrhosis but Not Alcoholic Chronic Pancreatitis. PLoS One. 2016 Nov 1;11(11):e0165567. doi: 10.1371/journal.pone.0165567. PubMed PMID:27802312   


Flannick J, Johansson S, Njølstad PR. Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes. Nat Rev Endocrinol. 2016 Jul;12(7):394-406. doi: 10.1038/nrendo.2016.50. Review. PubMed PMID: 27080136  

Flønes I, Sztromwasser P, Haugarvoll K, Dölle C, Lykouri M, Schwarzlmüller T,  Jonassen I, Miletic H, Johansson S, Knappskog PM, Bindoff LA, Tzoulis C. Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. PLoS One. 2016 Feb 10;11(2):e0149055. doi: 10.1371/journal.pone.0149055. PubMed PMID: 26863430 


Franke M, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Schöpflin R, Kraft K, Kempfer R, Jerković I, Chan WL, Spielmann M, Timmermann B, Wittler L, Kurth I, Cambiaso P, Zuffardi O, Houge G, Lambie L, Brancati F, Pombo A, Vingron M, Spitz F, Mundlos S. Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature. 2016 Oct 13;538(7624):265-269. doi: 10.1038/nature19800. PubMed PMID: 27706140


Franke B, Stein JL, Ripke S, et al. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nat Neurosci Mar 2016;19(3):420-431. PubMed PMID: 26854805


Giddaluru S, Espeseth T, Salami A, et al. Genetics of structural connectivity and information processing in the brain. Brain Struct Funct Feb 6 2016. PubMed PMID: 26852023


Gildestad T, Øyen N, Klungsøyr K, Nilsen RM, Daltveit AK, Vollset SE. Maternal use of folic acid supplements and infant risk of neural tube defects in Norway 1999-2013. Scand J Public Health. 2016 Aug;44(6):619-26. doi: 10.1177/1403494816649494. PubMed PMID: 27206771


Gronli J, Meerlo P, Pedersen TT, et al. A Rodent Model of Night-Shift Work Induces Short-Term and Enduring Sleep and Electroencephalographic Disturbances. J Biol Rhythms Dec 01 2016:748730416675460. PubMed PMID: 28013579


Hahn AF, Boman H. Cold-Induced Sweating Syndrome Including Crisponi Syndrome. 2011 Mar 3 [updated 2016 Mar 17]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK52917 PubMed PMID: 21370513  


Henriksen TE, Skrede S, Fasmer OB, et al. Blue-blocking glasses as additive treatment for mania: a randomized placebo-controlled trial. Bipolar Disord May 2016;18(3):221-232. PubMed PMID: 27226262


Hikmat O, Tzoulis C, Knappskog PM, Johansson S, Boman H, Sztromwasser P, Lien E, Brodtkorb E, Ghezzi D, Bindoff LA. ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? Eur J Neurol. 2016 Jul;23(7):1188-94. doi: 10.1111/ene.13003. PubMed PMID: 27106809  

Hinney A, Kesselmeier M, Jall S, et al. Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. Mol Psychiatry May 17 2016. PubMed PMID: 27184124


Hoberg-Vetti H, Bjorvatn C, Fiane BE, et al. BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. Eur J Hum Genet Jun 2016;24(6):881-888. PubMed PMID: 26350514

Howrigan DP, Simonson MA, Davies G, et al. Genome-wide autozygosity is associated with lower general cognitive ability. Mol Psychiatry Jun 2016;21(6):837-843. PubMed PMID: 26390830


Johansson BB, Irgens HU, Molnes J, Sztromwasser P, Aukrust I, Juliusson PB, Søvik O, Levy S, Skrivarhaug T, Joner G, Molven A, Johansson S, Njølstad PR. Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. Diabetologia. 2016 Dec 2. [Epub ahead of print] PubMed PMID: 27913849 


Johnsen E, Fathian F, Kroken RA, Steen VM, Jorgensen HA, Gjestad R, Loberg EM. The serum level of C-reactive protein (CRP) is associated with cognitive performance in acute phase psychosis. BMC Psychiatry Mar 14 2016;16:60. PubMed PMID: 26973142

Jorgensen SF, Reims HM, Frydenlund D, et al. A Cross-Sectional Study of the Prevalence of Gastrointestinal Symptoms and Pathology in Patients With Common Variable Immunodeficiency. Am J Gastroenterol Oct 2016;111(10):1467-1475. PubMed PMID: 27527747


Jortveit J, Eskedal L, Hirth A, Fomina T, Døhlen G, Hagemo P, Tell GS, Birkeland S, Øyen N, Holmstrøm H. Sudden unexpected death in children with congenital heart defects. Eur Heart J. 2016 Feb 14;37(7):621-6. doi: 10.1093/eurheartj/ehv478. PubMed PMID: 26341891


Jortveit J, Leirgul E, Eskedal L, Greve G, Fomina T, Døhlen G, Tell GS, Birkeland S, Øyen N, Holmstrøm H. Mortality and complications in 3495 children with isolated ventricular septal defects. Arch Dis Child. 2016 Sep;101(9):808-13. doi: 10.1136/archdischild-2015-310154. PubMed PMID: 27091847 


Jortveit J, Øyen N, Leirgul E, Fomina T, Tell GS, Vollset SE, Eskedal L, Døhlen G, Birkeland S, Holmstrøm H. Trends in Mortality of Congenital Heart Defects. Congenit Heart Dis. 2016 Mar-Apr;11(2):160-8. doi: 10.1111/chd.12307. PubMed PMID: 26559783


Klein M, Berger S, Hoogman M, Dammers J, Makkinje R, Heister AJ, Galesloot TE, Kiemeney LA, Weber H, Kittel-Schneider S, Lesch KP, Reif A, Ribasés M, Ramos-Quiroga JA, Cormand B, Zayats T, Hegvik TA, Jacobsen KK, Johansson S, Haavik J, Mota NR, Bau CH, Grevet EH, Doyle A, Faraone SV, Arias-Vásquez A, Franke B. Meta-analysis of the DRD5 VNTR in persistent ADHD. Eur Neuropsychopharmacol. 2016 Sep;26(9):1527-32. doi: 10.1016/j.euroneuro.2016.06.012. PubMed PMID: 27480019 


Le Hellard S, Wang Y, Witoelar A, et al. Identification of Gene Loci That Overlap Between Schizophrenia and Educational Attainment. Schizophr Bull Jun 23 2016. PubMed PMID: 27338279


Lien E, Våtevik AK, Østern R, Haukanes BI, Houge G. A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy. Ann Neurol. 2016 Aug;80(2):311-2. doi: 10.1002/ana.24699. PubMed PMID: 27273810


Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA,  Hippolyte L, Maillard AM; 2p15 Consortium.; 16p11.2 Consortium., Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry. 2016 May 31. doi: 10.1038/mp.2016.84. [Epub ahead of print] PubMed PMID: 27240531


Lozic B, Johansson S, Lovric Kojundzic S, Markic J, Knappskog PM, Hahn AF, Boman H. Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity. Ann Clin Transl Neurol. 2016 Oct 11;3(11):876-883. PubMed PMID: 27844033 


Marti AR, Meerlo P, Gronli J, et al. Shift in Food Intake and Changes in Metabolic Regulation and Gene Expression during Simulated Night-Shift Work: A Rat Model. Nutrients Nov 08 2016;8(11). PubMed PMID: 27834804


Martin-Almedina S, Martinez-Corral I, Holdhus R, Vicente A, Fotiou E, Lin S, Petersen K, Simpson MA, Hoischen A, Gilissen C, Jeffery H, Atton G, Karapouliou C, Brice G, Gordon K, Wiseman JW, Wedin M, Rockson SG, Jeffery S, Mortimer PS, Snyder MP, Berland S, Mansour S, Makinen T, Ostergaard P. EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops  fetalis. J Clin Invest. 2016 Aug 1;126(8):3080-8. doi: 10.1172/JCI85794. PubMed PMID: 27400125  


Mortensen JH, Øyen N, Fomina T, Melbye M, Tretli S, Vollset SE, Bjørge T. Supplemental folic acid in pregnancy and childhood cancer risk. Br J Cancer. 2016 Jan 12;114(1):71-5. doi: 10.1038/bjc.2015.446. PubMed PMID: 26757423


Najmi LA, Aukrust I, Flannick J, Molnes J, Burtt N, Molven A, Groop L, Altshuler D, Johansson S, Bjørkhaug L, Njølstad PR. Functional Investigations of  HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population. Diabetes. 2017 Feb;66(2):335-346. doi: 10.2337/db16-0460. PubMed PMID: 27899486  


Nepal C, Coolen M, Hadzhiev Y, et al. Transcriptional, post-transcriptional and chromatin-associated regulation of pri-miRNAs, pre-miRNAs and moRNAs. Nucleic Acids Res Apr 20 2016;44(7):3070-3081. PubMed PMID: 26673698

Neveling K, Mensenkamp AR, Derks R, et al. BRCA Testing by Single-Molecule Molecular Inversion Probes. Clin Chem Dec 14 2016. PubMed PMID: 27974384

Peng Q, Schork A, Bartsch H, et al. Conservation of Distinct Genetically-Mediated Human Cortical Pattern. PLoS Genet Jul 2016;12(7):e1006143. PubMed PMID: 27459196


Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Hereditary hypophosphatemia in  Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol. 2016 Feb;174(2):125-36. doi: 10.1530/EJE-15-0515. PubMed PMID: 26543054  


Steen VM, Skrede S, Polushina T, Lopez M, Andreassen OA, Ferno J, Hellard SL. Genetic evidence for a role of the SREBP transcription system and lipid biosynthesis in schizophrenia and antipsychotic treatment. Eur Neuropsychopharmacol Aug 1 2016. Pubmed PMID: 27492885


Steine IM, Zayats T, Stansberg C, et al. Implication of NOTCH1 gene in susceptibility to anxiety and depression among sexual abuse victims. Transl Psychiatry Dec 13 2016;6(12):e977. PubMed PMID: 27959334

Stokowy T, Garbulowski M, Fiskerstrand T, Holdhus R, Labun K, Sztromwasser P, Gilissen C, Hoischen A, Houge G, Petersen K, Jonassen I, Steen VM. RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data. Bioinformatics. 2016; 32: 3018-3020. PubMed PMID: 27288501

Schmidt S, Nag HE, Hunn BS, Houge G, Hoxmark LB. A structured assessment of motor function and behavior in patients with Kleefstra syndrome. Eur J Med Genet. 2016 Apr;59(4):240-8. doi: 10.1016/j.ejmg.2016.01.004. PubMed PMID: 26808425


Tzoulis C, Sztromwasser P, Johansson S, Gjerde IO, Knappskog P, Bindoff LA. PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum. 2017 Feb;16(1):272-275. doi: 10.1007/s12311-016-0784-y. PubMed PMID: 27165045 


von Volkmann HL, Nylund K, Tronstad RR, Hovdenak N, Hausken T, Fiskerstrand T, Gilja OH. An activating gucy2c mutation causes impaired contractility and fluid stagnation in the small bowel. Scand J Gastroenterol. 2016 Nov;51(11):1308-15. doi: 10.1080/00365521.2016.1200139. PubMed PMID: 27338166 


Wivestad Jansson R, Berland S, Bredrup C, Austeng D, Andréasson S, Wittström E. Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. Ophthalmic Genet. 2016 Jun;37(2):183-93. doi: 10.3109/13816810.2015.1020558. PubMed PMID: 26333019  


Zayats T, Jacobsen KK, Kleppe R, Jacob CP, Kittel-Schneider S, Ribasés M, Ramos-Quiroga JA, Richarte V, Casas M, Mota NR, Grevet EH, Klein M, Corominas J,  Bralten J, Galesloot T, Vasquez AA, Herms S, Forstner AJ, Larsson H, Breen G, Asherson P, Gross-Lesch S, Lesch KP, Cichon S, Gabrielsen MB, Holmen OL, Bau CH,  Buitelaar J, Kiemeney L, Faraone SV, Cormand B, Franke B, Reif A, Haavik J, Johansson S. Exome chip analyses in adult attention deficit hyperactivity disorder. Transl Psychiatry. 2016 Oct 18;6(10):e923. doi: 10.1038/tp.2016.196. PubMed PMID: 27754487 


Øyen N, Diaz LJ, Leirgul E, Boyd HA, Priest J, Mathiesen ER, Quertermous T, Wohlfahrt J, Melbye M. Prepregnancy Diabetes and Offspring Risk of Congenital Heart Disease: A Nationwide Cohort Study. Circulation. 2016 Jun 7;133(23):2243-53. doi:  0.1161/CIRCULATIONAHA.115.017465. PubMed PMID: 27166384


Publikasjonar ved MGM 2015

Publikasjonar der tilsette ved Senter for medisinsk genetikk og molekylærmedisin har delteke

Bredrup C, Johansson S, Bindoff LA, Sztromwasser P, Kråkenes J, Mellgren AE, Brurås KR, Lind O, Boman H, Knappskog PM, Rødahl E. High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). Am J Ophthalmol. 2015 May;159(5):973-9.e2. doi: 10.1016/j.ajo.2015.01.021. Epub 2015 Jan 26. PubMed PMID: 25634536.


 

Brodwall K, Leirgul E, Greve G, Vollset SE, Holmstrøm H, Tell GS, Øyen N. Possible Common Aetiology behind Maternal Preeclampsia and Congenital Heart Defects in the Child: a Cardiovascular Diseases in Norway Project Study. Paediatr Perinat Epidemiol. 2016 Jan;30(1):76-85. doi: 10.1111/ppe.12252. Epub 2015 Oct 19. PubMed PMID: 26479038.


Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P,
Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA. Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Mol Med. 2015 Dec 23. pii: e201505894. doi: 10.15252/emmm.201505894. [Epub ahead of print] PubMed PMID: 26697887.


 

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; Alzheimer's Disease Neuroimaging Initiative. Large-scale genomics unveil polygenic architecture of human cortical surface area. Nat Commun. 2015 Jul 20;6:7549. doi: 10.1038/ncomms8549. PubMed PMID: 26189703; PubMed Central PMCID: PMC4518289.


Davies G, Armstrong N, Bis JC, Bressler J, Chouraki V, Giddaluru S, Hofer E, Ibrahim-Verbaas CA, Kirin M, Lahti J, van der Lee SJ, Le Hellard S, Liu T, Marioni RE, Oldmeadow C, Postmus I, Smith AV, Smith JA, Thalamuthu A, Thomson R, Vitart V, Wang J, Yu L, Zgaga L, Zhao W, Boxall R, Harris SE, Hill WD, Liewald DC, Luciano M, Adams H, Ames D, Amin N, Amouyel P, Assareh AA, Au R, Becker JT, Beiser A, Berr C, Bertram L, Boerwinkle E, Buckley BM, Campbell H, Corley J, De Jager PL, Dufouil C, Eriksson JG, Espeseth T, Faul JD, Ford I; Generation Scotland, Gottesman RF, Griswold ME, Gudnason V, Harris TB, Heiss G, Hofman A, Holliday EG, Huffman J, Kardia SL, Kochan N, Knopman DS, Kwok JB, Lambert JC, Lee T, Li G, Li SC, Loitfelder M, Lopez OL, Lundervold AJ, Lundqvist A, Mather KA, Mirza SS, Nyberg L, Oostra BA, Palotie A, Papenberg G, Pattie A, Petrovic K, Polasek O, Psaty BM, Redmond P, Reppermund S, Rotter JI, Schmidt H, Schuur M, Schofield PW, Scott RJ, Steen VM, Stott DJ, van Swieten JC, Taylor KD, Trollor J, Trompet S, Uitterlinden AG, Weinstein G, Widen E, Windham BG, Jukema JW, Wright
AF, Wright MJ, Yang Q, Amieva H, Attia JR, Bennett DA, Brodaty H, de Craen AJ, Hayward C, Ikram MA, Lindenberger U, Nilsson LG, Porteous DJ, Räikkönen K, Reinvang I, Rudan I, Sachdev PS, Schmidt R, Schofield PR, Srikanth V, Starr JM, Turner ST, Weir DR, Wilson JF, van Duijn C, Launer L, Fitzpatrick AL, Seshadri S,Mosley TH Jr, Deary IJ. Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949). Mol Psychiatry. 2015 Feb;20(2):183-92. doi: 10.1038/mp.2014.188. Epub 2015 Feb 3. PubMed PMID: 25644384 ; PubMed Central PMCID: PMC4356746.


 

Ersland KM, Skrede S, Røst TH, Berge RK, Steen VM. Antipsychotic-induced
metabolic effects in the female rat: Direct comparison between long-acting
injections of risperidone and olanzapine. J Psychopharmacol. 2015
Dec;29(12):1280-9. doi: 10.1177/0269881115602490. Epub 2015 Sep 16. PubMed PMID: 26378122.


Fernø J, Ersland KM, Duus IH, González-García I, Fossan KO, Berge RK, Steen
VM, Skrede S. Olanzapine depot exposure in male rats: Dose-dependent lipogenic effects without concomitant weight gain. Eur Neuropsychopharmacol. 2015 Jun;25(6):923-32. doi:10.1016/j.euroneuro.2015.03.002. Epub 2015 Mar 18. PubMed
PMID: 25823694.


Fjeld K, Weiss FU, Lasher D, Rosendahl J, Chen JM, Johansson BB, Kirsten H,
Ruffert C, Masson E, Steine SJ, Bugert P, Cnop M, Grützmann R, Mayerle J, MössnerJ, Ringdal M, Schulz HU, Sendler M, Simon P, Sztromwasser P, Torsvik J, Scholz M, Tjora E, Férec C, Witt H, Lerch MM, Njølstad PR, Johansson S, Molven A. A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. Nat Genet. 2015 May;47(5):518-22. doi: 10.1038/ng.3249. Epub 2015 Mar 16. PubMed PMID: 25774637.


 

Fiskerstrand T. Diagnostic success with pitfalls. Tidsskr Nor Laegeforen. 2015 Nov 3;135(20):1812. doi: 10.4045/tidsskr.15.1062. eCollection 2015 Nov 3. English, Norwegian. PubMed PMID: 26534791.


Fluge Ø, Risa K, Lunde S, Alme K, Rekeland IG, Sapkota D, Kristoffersen EK, Sørland K, Bruland O, Dahl O, Mella O. B-Lymphocyte Depletion in Myalgic
Encephalopathy/ Chronic Fatigue Syndrome. An Open-Label Phase II Study with Rituximab Maintenance Treatment. PLoS One. 2015 Jul 1;10(7):e0129898. doi: 10.1371/journal.pone.0129898. eCollection 2015. PubMed PMID: 26132314; PubMed Central PMCID: PMC4488509.


Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J. Further delineation of the KAT6B molecular and phenotypic spectrum. Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi:10.1038/ejhg.2014.248. Epub 2014 Nov 26. PubMed PMID: 25424711; PubMed Central PMCID: PMC4351891.


 

Gildestad T, Bjørge T, Vollset SE, Klungsøyr K, Nilsen RM, Haaland ØA, Øyen N. Folic acid supplements and risk for oral clefts in the newborn: a population-based study. Br J Nutr. 2015 Nov 14;114(9):1456-63. doi: 10.1017/S0007114515003013. Epub 2015 Sep 7. PubMed PMID: 26343883.


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. MicroRNAs enrichment in GWAS of complex human phenotypes. BMC Genomics. 2015 Apr 16;16:304. doi: 10.1186/s12864-015-1513-5. PubMed PMID: 25884492; PubMed Central PMCID: PMC4437677.


 

Hansell NK, Halford GS, Andrews G, Shum DH, Harris SE, Davies G, Franic S, Christoforou A, Zietsch B, Painter J, Medland SE, Ehli EA, Davies GE, Steen VM, Lundervold AJ, Reinvang I, Montgomery GW, Espeseth T, Hulshoff Pol HE, Starr JM, Martin NG, Le Hellard S, Boomsma DI, Deary IJ, Wright MJ. Genetic basis of a cognitive complexity metric. PLoS One. 2015 Apr 10;10(4):e0123886. doi:10.1371/journal.pone.0123886. eCollection 2015. PubMed PMID: 25860228; PubMed Central PMCID: PMC4393228.

 

Haukanes BI, Hegvik TA, Eichler T, Haavik J, Vedeler C. Paraneoplastic
syndrome-associated neuronal antibodies in adult ADHD. J Neuroimmunol. 2015 Nov 15;288:87-91. doi: 10.1016/j.jneuroim.2015.08.018. Epub 2015 Sep 1. PubMed PMID: 26531699.


 

Helgeland Ø, Hertel JK, Molven A, Ræder H, Platou CG, Midthjell K, Hveem K, Nygård O, Njølstad PR, Johansson S. The Chromosome 9p21 CVD- and T2D-Associated Regions in a Norwegian Population (The HUNT2 Survey). Int J Endocrinol. 2015;2015:164652. doi: 10.1155/2015/164652. Epub 2015 May 18. PubMed PMID: 26089876; PubMed Central PMCID: PMC4451520.


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, Guadalupe T, Hass J, Woldehawariat G, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kim S, Klein M, Kraemer B, Lee PH, Olde Loohuis LM, Luciano M, Macare C, Mather KA, Mattheisen M, Milaneschi Y, Nho K, Papmeyer M, Ramasamy A, Risacher SL, Roiz-Santiañez R, Rose EJ, Salami A, Sämann PG, Schmaal L, Schork AJ, Shin J, Strike LT, Teumer A, van Donkelaar MM, van Eijk KR, Walters RK, Westlye LT, Whelan CD, Winkler AM, Zwiers MP, Alhusaini S, Athanasiu L, Ehrlich S, Hakobjan MM, Hartberg CB, Haukvik UK, Heister AJ, Hoehn D, Kasperaviciute D, Liewald DC, Lopez LM, Makkinje RR, Matarin M, Naber MA, McKay DR, Needham M, Nugent AC, Pütz B, Royle NA, Shen L, Sprooten E, Trabzuni D, van der Marel SS, van Hulzen KJ, Walton E, Wolf C, Almasy L, Ames D, Arepalli S, Assareh AA, Bastin ME, Brodaty H, Bulayeva KB, Carless MA, Cichon S, Corvin A, Curran JE, Czisch M, de Zubicaray GI, Dillman A, Duggirala R, Dyer TD, Erk S, Fedko IO, Ferrucci L, Foroud TM, Fox PT, Fukunaga M, Gibbs JR, Göring HH, Green RC, Guelfi S, Hansell NK, Hartman CA, Hegenscheid K, Heinz A, Hernandez DG, Heslenfeld DJ, Hoekstra PJ, Holsboer F, Homuth G, Hottenga JJ, Ikeda M, Jack CR Jr, Jenkinson M, Johnson R, Kanai R, Keil M, Kent JW Jr, Kochunov P, Kwok JB, Lawrie SM, Liu X, Longo DL, McMahon KL, Meisenzahl E, Melle I, Mohnke S, Montgomery GW, Mostert JC, Mühleisen TW, Nalls MA, Nichols TE, Nilsson LG, Nöthen MM, Ohi K, Olvera RL, Perez-Iglesias R, Pike GB, Potkin SG, Reinvang I, Reppermund S, Rietschel M, Romanczuk-Seiferth N, Rosen GD, Rujescu D, Schnell K, Schofield PR, Smith C, Steen VM, Sussmann JE, Thalamuthu A, Toga AW, Traynor BJ, Troncoso J, Turner JA, Valdés Hernández MC, van 't Ent D, van der Brug M, van der Wee NJ, van Tol MJ, Veltman DJ, Wassink TH, Westman E, Zielke RH, Zonderman AB, Ashbrook DG, Hager R, Lu L, McMahon FJ, Morris DW, Williams RW, Brunner HG, Buckner RL, Buitelaar JK, Cahn W, Calhoun VD, Cavalleri GL, Crespo-Facorro B, Dale AM, Davies GE, Delanty N, Depondt C, Djurovic S, Drevets WC, Espeseth T, Gollub RL, Ho BC, Hoffmann W, Hosten N, Kahn RS, Le Hellard S, Meyer-Lindenberg A, Müller-Myhsok B, Nauck M, Nyberg L, Pandolfo M, Penninx BW, Roffman JL, Sisodiya SM, Smoller JW, van Bokhoven H, van Haren NE, Völzke H, Walter H, Weiner MW, Wen W, White T, Agartz I, Andreassen OA, Blangero J, Boomsma DI, Brouwer RM, Cannon DM, Cookson MR, de Geus EJ, Deary IJ, Donohoe G, Fernández G, Fisher SE, Francks C, Glahn DC, Grabe HJ, Gruber O, Hardy J, Hashimoto R, Hulshoff Pol HE, Jönsson EG, Kloszewska I, Lovestone S, Mattay VS, Mecocci P, McDonald C, McIntosh AM, Ophoff RA, Paus T, Pausova Z, Ryten M, Sachdev PS, Saykin AJ, Simmons A,Singleton A, Soininen H, Wardlaw JM, Weale ME, Weinberger DR, Adams HH, Launer LJ, Seiler S, Schmidt R, Chauhan G, Satizabal CL, Becker JT, Yanek L, van der Lee SJ, Ebling M, Fischl B, Longstreth WT Jr, Greve D, Schmidt H, Nyquist P, Vinke LN, van Duijn CM, Xue L, Mazoyer B, Bis JC, Gudnason V, Seshadri S, Ikram MA; Alzheimer's Disease Neuroimaging Initiative; CHARGE Consortium; EPIGEN; IMAGEN; SYS, Martin NG, Wright MJ, Schumann G, Franke B, Thompson PM, Medland SE. Common genetic variants influence human subcortical brain structures. Nature. 2015 Apr 9;520(7546):224-9. doi: 10.1038/nature14101. Epub 2015 Jan 21. PubMed PMID: 25607358; PubMed Central PMCID: PMC4393366.


Horn D, Prescott T, Houge G, Brække K, Rosendahl K, Nishimura G, FitzPatrick DR, Spranger J. A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation. Eur J Med Genet. 2015 Aug;58(8):387-91. doi: 10.1016/j.ejmg.2015.06.003. Epub 2015 Jun 23. PubMed PMID: 26116559 .


 

Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, HaymanE, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI,Hoischen A, Eichler EE, Holdhus R, Steen VM, Døskeland SO, Hurles ME, FitzPatrick DR, Janssens V. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. J Clin Invest. 2015 Aug 3;125(8):3051-62. doi: 10.1172/JCI79860. Epub 2015 Jul 13. PubMed PMID: 26168268 ; PubMed Central PMCID: PMC4623570.

 
Houge G. Hvor går grensen mellom diagnostikk og forskning? Tidsskr Nor
Laegeforen. 2015 Oct 6;135(18):1632. doi: 10.4045/tidsskr.15.0817. eCollection 2015 Oct 6. Norwegian. PubMed PMID: 26442729 .


 

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, Steen VM, Hellard SL, Sundet K, Reinvang I, Espeseth T, Lundervold AJ, Giegling I, Konte B, Hartmann AM, Rujescu D, Roussos P, Giakoumaki S, Burdick KE, Bitsios P, Donohoe G, Corley RP, Visscher PM, Pendleton N, Malhotra AK, Neale BM, Lencz T, Keller MC. Genome-wide autozygosity is associated with lower general cognitive ability. Mol Psychiatry. 2015 Sep 22. doi: 10.1038/mp.2015.120. [Epub ahead of print] PubMed PMID: 26390830.


Høberg-Vetti H, Bjorvatn C, Fiane BE, Aas T, Woie K, Espelid H, Rusken T,
Eikesdal HP, Listøl W, Haavind MT, Knappskog PM, Haukanes BI, Steen VM,
Hoogerbrugge N. BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. Eur J Hum Genet. 2015 Sep 9. doi: 10.1038/ejhg.2015.196. [Epub ahead of print] PubMed PMID: 26350514.


 

Irgens HU, Fjeld K, Johansson BB, Ringdal M, Immervoll H, Leh S, Søvik O, Johansson S, Molven A, Njølstad PR. Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. J Clin Endocrinol Metab. 2015 May;100(5):E767-75. doi: 10.1210/jc.2014-4337. Epub 2015 Mar 9. PubMed PMID: 25751106.


Jacobsen KK, Kleppe R, Johansson S, Zayats T, Haavik J. Epistatic and gene
wide effects in YWHA and aromatic amino hydroxylase genes across ADHD and other common neuropsychiatric disorders: Association with YWHAE. Am J Med Genet B Neuropsychiatr Genet. 2015 Jul 14. doi: 10.1002/ajmg.b.32339. [Epub ahead of print] PubMed PMID: 26172220

Janus P, Stokowy T, Jaksik R, Szoltysek K, Handschuh L, Podkowinski J, Widlak W, Kimmel M, Widlak P. Cross talk between cytokine and hyperthermia-induced pathways: identification of different subsets of NF-κB-dependent genes regulated by TNFα and heat shock. Mol Genet Genomics. 2015 Oct;290(5):1979-90. doi: 10.1007/s00438-015-1055-1. Epub 2015 May 6. PubMed PMID: 25944781.


 

Jortveit J, Øyen N, Leirgul E, Fomina T, Tell GS, Vollset SE, Eskedal L, Døhlen G, Birkeland S, Holmstrøm H. Trends in Mortality of Congenital Heart Defects. Congenit Heart Dis. 2015 Nov 11. doi: 10.1111/chd.12307. [Epub ahead of print] PubMed PMID: 26559783.


Jortveit J, Eskedal L, Hirth A, Fomina T, Døhlen G, Hagemo P, Tell GS, Birkeland S, Øyen N, Holmstrøm H. Sudden unexpected death in children with congenital heart defects. Eur Heart J. 2015 Sep 4. pii: ehv478. [Epub ahead of print] PubMed PMID: 26341891.


Leirgul E, Gildestad T, Nilsen RM, Fomina T, Brodwall K, Greve G, Vollset SE, Holmstrøm H, Tell GS, Øyen N. Periconceptional Folic Acid Supplementation and Infant Risk of Congenital Heart Defects in Norway 1999-2009. Paediatr Perinat Epidemiol. 2015 Sep;29(5):391-400. doi: 10.1111/ppe.12212. Epub 2015 Jul 24. PubMed PMID: 26212116 .


Mellgren AE, Bruland O, Vedeler A, Saraste J, Schönheit J, Bredrup C,
Knappskog PM, Rødahl E. Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. Invest Ophthalmol Vis Sci. 2015 May;56(5):2909-15. doi: 10.1167/iovs.14-16014. PubMed PMID: 26029887.


Mortensen JH, Øyen N, Fomina T, Melbye M, Tretli S, Vollset SE, Bjørge T. Supplemental folic acid in pregnancy and maternal cancer risk. Cancer Epidemiol.  2015 Dec;39(6):805-11. doi: 10.1016/j.canep.2015.10.009. Epub 2015 Oct 18. PubMed PMID: 26569032.



Myrum C, Giddaluru S, Jacobsen K, Espeseth T, Nyberg L, Lundervold AJ, Haavik J, Nilsson LG, Reinvang I, Steen VM, Johansson S, Wibrand K, Le Hellard S, Bramham CR. Common variants in the ARC gene are not associated with cognitive abilities. Brain Behav. 2015 Sep 3;5(10):e00376. doi: 10.1002/brb3.376. eCollection 2015 Oct. PubMed PMID: 26516611 ; PubMed Central PMCID: PMC4614059.


 

Nepal C, Coolen M, Hadzhiev Y, Cussigh D, Mydel P, Steen VM, Carninci P,
Andersen JB, Bally-Cuif L, Müller F, Lenhard B. Transcriptional, post-transcriptional and chromatin-associated regulation of pri-miRNAs, pre-miRNAs and moRNAs. Nucleic Acids Res. 2015 Dec 15. pii: gkv1354. [Epub ahead of print] PubMed PMID: 26673698.


Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp  EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG, Sewell WA, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S, Knappskog PM, Løvås K, Wolff AS, Abramson J, Husebye ES. Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. Immunity. 2015 Jun 16;42(6):1185-96. doi: 10.1016/j.immuni.2015.04.021. PubMed PMID: 26084028.


Perlejewski K, Popiel M, Laskus T, Nakamura S, Motooka D, Stokowy T, Lipowski D, Pollak A, Lechowicz U, Caraballo Cortés K, Stępień A, Radkowski M,Bukowska-Ośko I. Next-generation sequencing (NGS) in the identification of encephalitis-causing viruses: Unexpected detection of human herpesvirus 1 while searching for RNA pathogens. J Virol Methods. 2015 Dec 15;226:1-6. doi: 10.1016/j.jviromet.2015.09.010. Epub 2015 Sep 28.  PubMed PMID: 26424618.


 

Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol. 2015 Feb;174(2):125-36. doi:
10.1530/EJE-15-0515. Epub 2015 Nov 5. PubMed PMID: 26543054; PubMed Central PMCID: PMC4674593.


 

Ranthe MF, Carstensen L, Øyen N, Jensen MK, Axelsson A, Wohlfahrt J, Melbye M, Bundgaard H, Boyd HA. Risk of Cardiomyopathy in Younger Persons With a Family History of Death from Cardiomyopathy: A Nationwide Family Study in a Cohort of 3.9 Million Persons. Circulation. 2015 Sep 15;132(11):1013-9. doi: 10.1161/CIRCULATIONAHA.114.013478. Epub 2015 Aug 14. PubMed PMID: 26276887.


 


Reikvam H, Brenner AK, Hagen KM, Liseth K, Skrede S, Hatfield KJ, Bruserud Ø. The cytokine-mediated crosstalk between primary human acute myeloid cells and mesenchymal stem cells alters the local cytokine network and the global gene expression profile of the mesenchymal cells. Stem Cell Res. 2015 Nov;15(3):530-41. doi: 10.1016/j.scr.2015.09.008. Epub 2015 Sep 25. PubMed PMID: 26468600.

Rosendahl K, Houge G, Gradek GA, Berland S, Fevang JM, Berentsen RD, Júlíusson PB. [Special outpatient clinic for skeletal dysplasias]. Tidsskr Nor Laegeforen. 2015 Mar 10;135(5):419-20. doi: 10.4045/tidsskr.14.1022. eCollection 2015 Mar 10. Norwegian. PubMed PMID: 25761024.


 

Rozenkova K, Malikova J, Nessa A, Dusatkova L, Bjørkhaug L, Obermannova B, Dusatkova P, Kytnarova J, Aukrust I, Najmi LA, Rypackova B, Sumnik Z, Lebl J, Njølstad PR, Hussain K, Pruhova S. High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism. J Clin Endocrinol Metab. 2015 Dec;100(12):E1540-9. doi: 10.1210/jc.2015-2763. Epub 2015 Oct 2. PubMed PMID: 26431509.


Sánchez-Mora C, Ramos-Quiroga JA, Bosch R, Corrales M, Garcia-Martínez I, Nogueira M, Pagerols M, Palomar G, Richarte V, Vidal R, Arias-Vasquez A,
Bustamante M, Forns J, Gross-Lesch S, Guxens M, Hinney A, Hoogman M, Jacob C, Jacobsen KK, Kan CC, Kiemeney L, Kittel-Schneider S, Klein M, Onnink M, Rivero O, Zayats T, Buitelaar J, Faraone SV, Franke B, Haavik J, Johansson S, Lesch KP, Reif A, Sunyer J, Bayés M, Casas M, Cormand B, Ribasés M. Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder. Neuropsychopharmacology. 2015 Mar;40(4):915-26. doi: 10.1038/npp.2014.267. Epub 2014 Oct 6. PubMed PMID: 25284319; PubMed Central PMCID: PMC4330505.


 

Sapkota D, Bruland O, Parajuli H, Osman TA, Teh MT, Johannessen AC, Costea DE.S100A16 promotes differentiation and contributes to a less aggressive tumor phenotype in oral squamous cell carcinoma. BMC Cancer. 2015 Sep 9;15:631. doi: 10.1186/s12885-015-1622-1. PubMed PMID: 26353754; PubMed Central PMCID: PMC4564982.


 

Skrede S, Tvete IF, Tanum L, Steen VM, Bramness JG. Incident users of
antipsychotic agents and future use of cholesterol-lowering drugs: an
observational, pharmacoepidemiologic study. J Clin Psychiatry. 2015
Jan;76(1):e111-6. doi: 10.4088/JCP.14m08996. PubMed PMID: 25650676 .


 

Stokowy T, Wojtaś B, Krajewska J, Stobiecka E, Dralle H, Musholt T, Hauptmann S, Lange D, Hegedüs L, Jarząb B, Krohn K, Paschke R, Eszlinger M. A two miRNA classifier differentiates follicular thyroid carcinomas from follicular thyroid adenomas. Mol Cell Endocrinol. 2015 Jan 5;399:43-9. doi: 10.1016/j.mce.2014.09.017. Epub 2014 Sep 26. PubMed PMID: 25258301.


 

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, Ikeda M, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Horan M, Scult M, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri A, Weinberger DR, Pendleton N, Iwata N, Darvasi A, Bitsios P, Rujescu D, Lahti J, Le Hellard S, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Malhotra AK. Independent evidence for an association between general cognitive ability and a genetic locus for educational attainment. Am J Med Genet B Neuropsychiatr Genet. 2015 Jul;168B(5):363-73. doi: 10.1002/ajmg.b.32319. Epub 2015 May 7. PubMed PMID: 25951819; PubMed Central PMCID: PMC4500051.


 

Tzoulis C, Zayats T, Knappskog PM, Müller B, Larsen JP, Tysnes OB, Bindoff LA, Johansson S, Haugarvoll K. HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proc Natl Acad Sci U S A. 2015 May 5;112(18):E2268. doi: 10.1073/pnas.1503105112. Epub 2015 Mar 30. PubMed PMID: 25825781 ; PubMed Central PMCID: PMC4426452.


 

Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T. Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. Eur J Hum Genet. 2015 Dec;23(12):1652-6. doi: 10.1038/ejhg.2015.30. Epub 2015 Mar 4. PubMed PMID: 25735484 .


 

Weber H, Kittel-Schneider S, Heupel J, Weißflog L, Kent L, Freudenberg F,
Alttoa A, Post A, Herterich S, Haavik J, Halmøy A, Fasmer OB, Landaas ET,
Johansson S, Cormand B, Ribasés M, Sánchez-Mora C, Ramos-Quiroga JA, Franke B, Lesch KP, Reif A. On the role of NOS1 ex1f-VNTR in ADHD-allelic, subgroup, and meta-analysis. Am J Med Genet B Neuropsychiatr Genet. 2015 Jun 18. doi: 10.1002/ajmg.b.32326. [Epub ahead of print] PubMed
PMID: 26086921.


 

Wedding IM, Kroken M, Henriksen SP, Selmer KK, Fiskerstrand T, Knappskog PM, Berge T, Tallaksen CM. Friedreich ataxia in Norway - an epidemiological, molecular and clinical study. Orphanet J Rare Dis. 2015 Sep 4;10:108. doi: 10.1186/s13023-015-0328-4. PubMed PMID: 26338206 ; PubMed Central PMCID: PMC4559212.


 

Wivestad Jansson R, Berland S, Bredrup C, Austeng D, Andréasson S, Wittström E. Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. Ophthalmic Genet. 2015 Sep 2:1-11. [Epub ahead of print] PubMed PMID: 26333019.


 

Zayats T, Athanasiu L, Sonderby I, Djurovic S, Westlye LT, Tamnes CK, Fladby T, Aase H, Zeiner P, Reichborn-Kjennerud T, Knappskog PM, Knudsen GP, Andreassen  OA, Johansson S, Haavik J. Genome-wide analysis of attention deficit hyperactivity disorder in Norway. PLoS One. 2015 Apr 13;10(4):e0122501. doi: 10.1371/journal.pone.0122501. eCollection 2015. PubMed PMID: 25875332 ; PubMed Central PMCID: PMC4395400.


 

Zayats T, Johansson S, Haavik J. Expanding the toolbox of ADHD genetics. How can we make sense of parent of origin effects in ADHD and related behavioralphenotypes? Behav Brain Funct. 2015 Oct 16;11(1):33. doi:

10.1186/s12993-015-0078-4. PubMed PMID: 26475699 ; PubMed Central PMCID:PMC4609130.

 

Zhang G, Bacelis J, Lengyel C, Teramo K, Hallman M, Helgeland Ø, Johansson S, Myhre R, Sengpiel V, Njølstad PR, Jacobsson B, Muglia L. Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. PLoS Med. 2015 Aug 18;12(8):e1001865. doi:10.1371/journal.pmed.1001865. eCollection 2015 Aug. PubMed PMID:26284790 ; PubMed Central PMCID: PMC4540580.


Publikasjonar ved MGM 2014

Publikasjonar der tilsette ved Senter for medisinsk genetikk og molekylærmedisin har delteke.

Abarca H, Mellgren AE, Trubnykova M, Haugen OH, Høvding G, Tveit KS, Houge G, Bredrup C, Hennekam RC. Ocular pterygium--digital keloid dysplasia. Am J Med Genet A. 2014 Nov;164A(11):2901-7. doi: 10.1002/ajmg.a.36713. Epub 2014 Aug 14. PubMed PMID: 25124224.


 

Apelland T, Gude E, Strøm EH, Gullestad L, Eiklid KL, Månsson JE, Reinholt FP, Houge G, Dahl CP, Almaas VM, Heiberg A. Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease. Heart. 2014 Nov;100(22):1793-8. doi: 10.1136/heartjnl-2014-305616. Epub 2014 Jul 16. PubMed PMID: 25031264.


Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM, Southam L, Rayner NW, Tachmazidou I, Klump KL, Treasure J, Lewis CM, Schmidt U, Tozzi F, Kiezebrink K, Hebebrand J, Gorwood P, Adan RA, Kas MJ, Favaro A, Santonastaso P, Fernández-Aranda F, Gratacos M, Rybakowski F, Dmitrzak-Weglarz M, Kaprio J, Keski-Rahkonen A, Raevuori A, Van Furth EF, Slof-Op 't Landt MC, Hudson JI, Reichborn-Kjennerud T, Knudsen GP, Monteleone P, Kaplan AS, Karwautz A, Hakonarson H, Berrettini WH, Guo Y, Li D, Schork NJ, Komaki G, Ando T, Inoko H, Esko T, Fischer K, Männik K, Metspalu A, Baker JH, Cone RD, Dackor J, DeSocio JE, Hilliard CE, O'Toole JK, Pantel J, Szatkiewicz JP, Taico C, Zerwas S, Trace SE, Davis OS, Helder S, Bühren K, Burghardt R, de Zwaan M, Egberts K, Ehrlich S, Herpertz-Dahlmann B, Herzog W, Imgart H, Scherag A, Scherag S, Zipfel S, Boni C, Ramoz N, Versini A, Brandys MK, Danner UN, de Kovel C, Hendriks J, Koeleman BP, Ophoff RA, Strengman E, van Elburg AA, Bruson A, Clementi M, Degortes D, Forzan M, Tenconi E, Docampo E, Escaramís G, Jiménez-Murcia S, Lissowska J, Rajewski A, Szeszenia-Dabrowska N, Slopien A, Hauser J, Karhunen L, Meulenbelt I, Slagboom PE, Tortorella A, Maj M, Dedoussis G, Dikeos D, Gonidakis F, Tziouvas K, Tsitsika A, Papezova H, Slachtova L, Martaskova D, Kennedy JL, Levitan RD, Yilmaz Z, Huemer J, Koubek D, Merl E, Wagner G, Lichtenstein P, Breen G, Cohen-Woods S, Farmer A, McGuffin P, Cichon S, Giegling I, Herms S, Rujescu D, Schreiber S, Wichmann HE, Dina C, Sladek R, Gambaro G, Soranzo N, Julia A, Marsal S, Rabionet R, Gaborieau V, Dick DM, Palotie A, Ripatti S, Widén E, Andreassen OA, Espeseth T, Lundervold A, Reinvang I, Steen VM, Le Hellard S, Mattingsdal M, Ntalla I, Bencko V, Foretova L, Janout V, Navratilova M, Gallinger S, Pinto D, Scherer SW,  Aschauer H, Carlberg L, Schosser A, Alfredsson L, Ding B, Klareskog L, Padyukov L, Courtet P, Guillaume S, Jaussent I, Finan C, Kalsi G, Roberts M, Logan DW, Peltonen L, Ritchie GR, Barrett JC; Wellcome Trust Case Control Consortium 3, Estivill X, Hinney A, Sullivan PF, Collier DA, Zeggini E, Bulik CM. A genome-wide association study of anorexia nervosa. Mol Psychiatry. 2014 Oct;19(10):1085-94. doi: 10.1038/mp.2013.187. Epub 2014 Feb 11. PubMed PMID: 24514567.


 

Christoforou A, Espeseth T, Davies G, Fernandes CP, Giddaluru S, Mattheisen M, Tenesa A, Harris SE, Liewald DC, Payton A, Ollier W, Horan M, Pendleton N, Haggarty P, Djurovic S, Herms S, Hoffman P, Cichon S, Starr JM, Lundervold A, Reinvang I, Steen VM, Deary IJ, Le Hellard S. GWAS-based pathway analysis differentiates between fluid and crystallized intelligence. Genes Brain Behav. 2014 Sep;13(7):663-74. doi: 10.1111/gbb.12152. Epub 2014 Aug 8. PubMed PMID: 24975275; PubMed Central PMCID: PMC4261989.


Courage C, Houge G, Gallati S, Schjelderup J, Rieubland C. 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. Eur J Med Genet. 2014 Sep;57(9):520-3. doi: 10.1016/j.ejmg.2014.06.003. Epub 2014 Jun 13. PubMed PMID: 24932903.


 

de Leeuw N, Houge G. Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome. Am J Hum Genet. 2014 Jan 2;94(1):153-4. doi: 10.1016/j.ajhg.2013.11.016. PubMed PMID: 24387995; PubMed Central PMCID:PMC3882914.


 

Eifes S, Chudasama KK, Molnes J, Wagner K, Hoang T, Schierloh U, Rocour-Brumioul D, Johansson S, Njølstad PR, de Beaufort C. A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. Clin Case Rep. 2013 Dec;1(2):86-90. doi: 10.1002/ccr3.33. Epub 2013 Nov 21. PubMed PMID: 25356219


 

Fernandes CP, Westlye LT, Giddaluru S, Christoforou A, Kauppi K, Adolfsson R,  Nilsson LG, Nyberg L, Lundervold AJ, Reinvang I, Steen VM, Le Hellard S, Espeseth T. Lack of association of the rs1344706 ZNF804A variant with cognitive functions  and DTI indices of white matter microstructure in two independent healthy populations. Psychiatry Res. 2014 Apr 30;222(1-2):60-6. PMID: 24636489


 

Flannick J, Thorleifsson G, Beer NL, Jacobs SB, Grarup N, Burtt NP, Mahajan A, Fuchsberger C, Atzmon G, Benediktsson R, Blangero J, Bowden DW, Brandslund I, Brosnan J, Burslem F, Chambers J, Cho YS, Christensen C, Douglas DA, Duggirala R, Dymek Z, Farjoun Y, Fennell T, Fontanillas P, Forsén T, Gabriel S, Glaser B, Gudbjartsson DF, Hanis C, Hansen T, Hreidarsson AB, Hveem K, Ingelsson E, Isomaa  B, Johansson S, Jørgensen T, Jørgensen ME, Kathiresan S, Kong A, Kooner J, Kravic J, Laakso M, Lee JY, Lind L, Lindgren CM, Linneberg A, Masson G, Meitinger T, Mohlke KL, Molven A, Morris AP, Potluri S, Rauramaa R, Ribel-Madsen R, Richard AM, Rolph T, Salomaa V, Segrè AV, Skärstrand H, Steinthorsdottir V, Stringham HM, Sulem P, Tai ES, Teo YY, Teslovich T, Thorsteinsdottir U, Trimmer JK, Tuomi T, Tuomilehto J, Vaziri-Sani F, Voight BF, Wilson JG, Boehnke M, McCarthy MI, Njølstad PR, Pedersen O; Go-T2D Consortium; T2D-GENES Consortium, Groop L, Cox DR, Stefansson K, Altshuler D. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat Genet. 2014 Apr;46(4):357-63. PMID: 24584071.


 

Fossbakk A, Kleppe R, Knappskog PM, Martinez A, Haavik J. Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. Hum Mutat. 2014 Jul;35(7):880-90. doi: 10.1002/humu.22565. Epub 2014 Jun 3. PubMed PMID: 24753243.


 

Haarr L, Nilsen A, Knappskog PM, Langeland N. Stability of glycoprotein gene sequences of herpes simplex virus type 2 from primary to recurrent human infection, and diversity of the sequences among patients attending an STD clinic. BMC Infect Dis. 2014 Feb 6;14:63. doi: 10.1186/1471-2334-14-63. PubMed PMID: 24502528; PubMed Central PMCID: PMC3924402.


 

Haugarvoll K, Tzoulis C, Tran GT, Karlsen B, Engelsen BA, Knappskog PM, Bindoff LA. Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. J Neurol. 2014 Feb;261(2):358-62. doi: 10.1007/s00415-013-7203-9. Epub 2013 Dec 3. PubMed PMID: 24297365.


Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S. STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet J Rare Dis. 2014 Sep 26;9:146. PMID: 25258038


 

Henriksen TE, Skrede S, Fasmer OB, Hamre B, Grønli J, Lund A. Blocking blue light during mania - markedly increased regularity of sleep and rapid improvement of symptoms: a case report. Bipolar Disord. 2014 Dec;16(8):894-8. doi: 10.1111/bdi.12265. Epub 2014 Sep 27. PubMed PMID: 25264124.


 

Hill WD, Davies G, van de Lagemaat LN, Christoforou A, Marioni RE, Fernandes CP, Liewald DC, Croning MD, Payton A, Craig LC, Whalley LJ, Horan M, Ollier W, Hansell NK, Wright MJ, Martin NG, Montgomery GW, Steen VM, Le Hellard S, EspesethT, Lundervold AJ, Reinvang I, Starr JM, Pendleton N, Grant SG, Bates TC, DearyIJ. Human cognitive ability is influenced by genetic variation in components of postsynaptic signalling complexes assembled by NMDA receptors and MAGUK proteins. Transl Psychiatry. 2014 Jan 7;4:e341. doi: 10.1038/tp.2013.114. PubMed PMID: 24399044; PubMed Central PMCID: PMC3905224.


Huckins LM, Boraska V, Franklin CS, Floyd JA, Southam L; GCAN; WTCCC3, Sullivan PF, Bulik CM, Collier DA, Tyler-Smith C, Zeggini E, Tachmazidou I; GCAN; WTCCC3. Using ancestry-informative markers to identify fine structure across 15 populations of European origin. Eur J Hum Genet. 2014 Oct;22(10):1190-200. doi: 10.1038/ejhg.2014.1. Epub 2014 Feb 19. PubMed PMID: 24549058; PubMed Central PMCID: PMC4169539


Jacobsen KK, Nievergelt CM, Zayats T, Greenwood TA, Anttila V, Akiskal HS; BiGS Consortium; IHG Consortium; BiGS Consortium Co-Authors include:; IHG Consortium Co-Authors include:, Haavik J, Bernt Fasmer O, Kelsoe JR, Johansson S, Oedegaard KJ; BiGS Consortium Co-Authors include; IHG Consortium Co-Authors include. Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder. J Affect Disord. 2014 Oct 12;172C:453-461. doi: 10.1016/j.jad.2014.10.004. [Epub ahead of print] PubMed PMID: 25451450.


 

Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. Am J Med Genet A. 2014 Jul;164A(7):1622-6. doi: 10.1002/ajmg.a.36498. Epub 2014 Mar 26. PubMed PMID: 24678003.


 

Korfanty J, Stokowy T, Widlak P, Gogler-Piglowska A, Handschuh L, Podkowiński J, Vydra N, Naumowicz A, Toma-Jonik A, Widlak W. Crosstalk between HSF1 and HSF2 during the heat shock response in mouse testes. Int J Biochem Cell Biol. 2014 Dec;57:76-83. doi: 10.1016/j.biocel.2014.10.006. Epub 2014 Oct 19. PubMed PMID: 25450459.


Kroken RA, Løberg EM, Drønen T, Grüner R, Hugdahl K, Kompus K, Skrede S, Johnsen E. A critical review of pro-cognitive drug targets in psychosis: convergence on myelination and inflammation. Front Psychiatry. 2014 Feb 4;5:11. doi: 10.3389/fpsyt.2014.00011. eCollection 2014. Review. PubMed PMID: 24550848; PubMed Central PMCID: PMC3912739.


Le Hellard S, Steen VM. Genetic architecture of cognitive traits. Scand J Psychol. 2014 Jun;55(3):255-62. doi: 10.1111/sjop.12112. Epub 2014 Mar 8. PubMed PMID: 24605886.


Lencz T, Knowles E, Davies G, Guha S, 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, Ikeda M, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Horan M, Donohoe G, Morris D, Corvin A, Gill M, Pendleton N, Iwata N, Darvasi A, Bitsios P, Rujescu D, Lahti J, Hellard SL, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Malhotra AK. Molecular genetic evidence for overlap between general cognitive ability and risk for schizophrenia: a report from the Cognitive Genomics consorTium (COGENT). Mol Psychiatry. 2014 Feb;19(2):168-74. doi: 10.1038/mp.2013.166. Epub 2013 Dec 17. PubMed PMID: 24342994; PubMed Central PMCID: PMC3968799.


Li L, Osdal T, Ho Y, Chun S, McDonald T, Agarwal P, Lin A, Chu S, Qi J, Li L,  Hsieh YT, Dos Santos C, Yuan H, Ha TQ, Popa M, Hovland R, Bruserud O, Gjertsen BT, Kuo YH, Chen W, Lain S, McCormack E, Bhatia R. SIRT1 activation by a c-MYC oncogenic network promotes the maintenance and drug resistance of human FLT3-ITD acute Myeloid Leukemia stem cells. Cell Stem Cell. 2014 Oct 2;15(4):431-46. doi: 10.1016/j.stem.2014.08.001. PubMed PMID: 25280219.


 

Lundin C, Forestier E, Klarskov Andersen M, Autio K, Barbany 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 Oncology (NOPHO); Swedish Cytogenetic Leukemia Study Group (SCLSG); NOPHO Leukemia Cytogenetic Study Group (NLCSG). Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries. J Hematol Oncol. 2014 Apr 11;7(1):32. doi: 10.1186/1756-8722-7-32. PubMed PMID: 24726034; PubMed Central PMCID: PMC4022076.


 

Lybæk H, de Bruijn D, den Engelsman-van Dijk AH, Vanichkina D, Nepal C, Brendehaug A, Houge G. RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts. Epigenetics. 2014 Mar;9(3):416-27. doi: 10.4161/epi.27474. Epub 2013 Dec 18. PubMed PMID: 24351654; PubMed Central PMCID: PMC4053460.


Melone MA, Pellegrino MJ, Nolano M, Habecker BA, Johansson S, Nathanson NM, Knappskog PM, Hahn AF, Boman H. Unusual Stüve-Wiedemann syndrome with completematernal chromosome 5 isodisomy. Ann Clin Transl Neurol. 2014 Nov;1(11):926-32.PMID: 25540807


 

Negahdar M, Aukrust I, Molnes J, Solheim MH, Johansson BB, Sagen JV, Dahl-Jørgensen K, Kulkarni RN, Søvik O, Flatmark T, Njølstad PR, Bjørkhaug L. GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation. Mol Cell Endocrinol. 2014 Jan 25;382(1):55-65. PubMed PMID: 24001579.


 

Norheim KB, Le Hellard S, Nordmark G, Harboe E, Gøransson L, Brun JG, Wahren-Herlenius M, Jonsson R, Omdal R. A possible genetic association with chronic fatigue in primary Sjögren's syndrome: a candidate gene study. Rheumatol  Int. 2014 Feb;34(2):191-7. doi: 10.1007/s00296-013-2850-9. Epub 2013 Sep 3. PubMed PMID: 23999819.


 

Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature. BMC Genet. 2014 Sep 24;15(1):98. [Epub ahead of print] PubMed PMID: 25249269; PubMed Central PMCID: PMC4181413.


Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A; UK10K; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye  malformations. Am J Hum Genet. 2014 Jun 5;94(6):915-23 doi:10.1016/j.ajhg.2014.05.005. PubMed PMID: 24906020; PubMed Central PMCID: PMC4121478.


 

Reikvam H, Hovland R, Bruserud Ø. [Acute promyelocytic leukaemia]. Tidsskr Nor Laegeforen. 2014 May 27;134(10):1052-5. doi: 10.4045/tidsskr.13.1508. eCollection 2014 May 27. Review. Norwegian. PubMed PMID: 24865730.

 
 

SIGMA Type 2 Diabetes Consortium, Estrada K, Aukrust I, Bjørkhaug L, Burtt NP, Mercader JM, García-Ortiz H, Huerta-Chagoya A, Moreno-Macías H, Walford G, Flannick J, Williams AL, Gómez-Vázquez MJ, Fernandez-Lopez JC, Martínez-Hernández A, Centeno-Cruz F, Mendoza-Caamal E, Revilla-Monsalve C, Islas-Andrade S, Córdova EJ, Soberón X, González-Villalpando ME, Henderson E, Wilkens LR, Le Marchand L, Arellano-Campos O, Ordóñez-Sánchez ML, Rodríguez-Torres M, Rodríguez-Guillén R, Riba L, Najmi LA, Jacobs SB, Fennell T, Gabriel S, Fontanillas P, Hanis CL, Lehman DM, Jenkinson CP, Abboud HE, Bell GI, Cortes ML, Boehnke M, González-Villalpando C, Orozco L, Haiman CA, Tusié-Luna T, Aguilar-Salinas CA, Altshuler D, Njølstad PR, Florez JC, MacArthur DG, Jiménez-Morales S. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. JAMA. 2014 Jun 11;311(22):2305-14. doi: 10.1001/jama.2014.6511. Erratum in: JAMA. 2014 Nov 12:312(18):1932. Jiménez-Morales, Silvia[PMID: 24915262.


 

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