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 2018

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

Publikasjonsliste for MGM 2018

 

1: Witoelar A, Rongve A, Almdahl IS, Ulstein ID, Engvig A, White LR, Selbæk G,Stordal E, Andersen F, Brækhus A, Saltvedt I, Engedal K, Hughes T, Bergh S,Bråthen G, Bogdanovic N, Bettella F, Wang Y, Athanasiu L, Bahrami S, Le HellardS, Giddaluru S, Dale AM, Sando SB, Steinberg S, Stefansson H, Snaedal J, Desikan RS, Stefansson K, Aarsland D, Djurovic S, Fladby T, Andreassen OA. Meta-analysis of Alzheimer's disease on 9,751 samples from Norway and IGAP study identifiesfour risk loci. Sci Rep. 2018 Dec 27;8(1):18088. doi: 10.1038/s41598-018-36429-6.PubMed PMID: 30591712.

2: Bredrup C, Stokowy T, McGaughran J, Lee S, Sapkota D, Cristea I, Xu L, TveitKS, Høvding G, Steen VM, Rødahl E, Bruland O, Houge G. A tyrosinekinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition inthe severe end of Penttinen syndrome. Eur J Hum Genet. 2018 Dec 20. doi:10.1038/s41431-018-0323-z. [Epub ahead of print] PubMed PMID: 30573803.

3: Supernat A, Vidarsson OV, Steen VM, Stokowy T. Comparison of three variantcallers for human whole genome sequencing. Sci Rep. 2018 Dec 14;8(1):17851. doi: 10.1038/s41598-018-36177-7. PubMed PMID: 30552369; PubMed Central PMCID:PMC6294778.

4: Banerjee N, Polushina T, Bettella F, Steen VM, Andreassen OA, Le Hellard S.Analysis of differentially methylated regions in great apes and extinct hominids provides support for the evolutionary hypothesis of schizophrenia. Schizophr Res.2018 Dec 10. pii: S0920-9964(18)30676-5. doi: 10.1016/j.schres.2018.11.025. [Epubahead of print] PubMed PMID: 30545758.

5: Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, SaitsuH, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K,Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N.De novo truncating variants in PHF21A cause intellectual disability andcraniofacial anomalies. Eur J Hum Genet. 2018 Nov 28. doi:10.1038/s41431-018-0289-x. [Epub ahead of print] PubMed PMID: 30487643.

6: Rødahl E, Knappskog PM, Bredrup C, Boman H. Congenital Stromal CornealDystrophy. 2008 Nov 25 [updated 2018 Nov 29]. In: Adam MP, Ardinger HH, Pagon RA,Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2018. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK2690/ PubMed PMID: 20301741.

7: Xu L, Jensen H, Johnston JJ, Di Maria E, Kloth K, Cristea I, Sapp JC, Darling TN, Huryn LA, Tranebjærg L, Cinotti E, Kubisch C, Rødahl E, Bruland O, Biesecker LG, Houge G, Bredrup C. Recurrent, Activating Variants in the Receptor TyrosineKinase DDR2 Cause Warburg-Cinotti Syndrome. Am J Hum Genet. 2018 Dec6;103(6):976-983. doi: 10.1016/j.ajhg.2018.10.013. Epub 2018 Nov 15. PubMed PMID:30449416.

8: Gjerde PB, Jørgensen KN, Steen NE, Melle I, Andreassen OA, Steen VM, Agartz I.Association between olanzapine treatment and brain cortical thickness andgray/white matter contrast is moderated by cholesterol in psychotic disorders. Psychiatry Res Neuroimaging. 2018 Dec 30;282:55-63. doi:10.1016/j.pscychresns.2018.10.001. Epub 2018 Oct 29. PubMed PMID: 30415175.

9: Szigetvari PD, Muruganandam G, Kallio JP, Hallin EI, Fossbakk A, Loris R,Kursula I, Møller LB, Knappskog PM, Kursula P, Haavik J. The quaternary structureof human tyrosine hydroxylase: effects of dystonia-associated missense variantson oligomeric state and enzyme activity. J Neurochem. 2018 Nov 9. doi:10.1111/jnc.14624. [Epub ahead of print] PubMed PMID: 30411798.

10: Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P,Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB,Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D,Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E,Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH,Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, RichardsLJ. NFIB Haploinsufficiency Is Associated with Intellectual Disability andMacrocephaly. Am J Hum Genet. 2018 Nov 1;103(5):752-768. doi:10.1016/j.ajhg.2018.10.006. PubMed PMID: 30388402; PubMed Central PMCID:PMC6218805.

11: Smajlagić D, Kvarme Jacobsen K, Myrum C, Haavik J, Johansson S, Zayats T.Moderating effect of mode of delivery on the genetics of intelligence:Explorative genome-wide analyses in ALSPAC. Brain Behav. 2018 Dec;8(12):e01144.doi: 10.1002/brb3.1144. Epub 2018 Oct 31. PubMed PMID: 30378284.

12: Jørgensen KM, Færgestad Mosleth E, Hovde Liland K, Hopf NB, Holdhus R,Stavrum AK, Gjertsen BT, Kirkeleit J. Global Gene Expression Response inPeripheral Blood Cells of Petroleum Workers Exposed to Sub-Ppm Benzene Levels.Int J Environ Res Public Health. 2018 Oct 27;15(11). pii: E2385. doi:10.3390/ijerph15112385. PubMed PMID: 30373255; PubMed Central PMCID: PMC6266895.

13: Tronstad RR, Polushina T, Brattbakk HR, Stansberg C, von Volkmann HL, HanevikK, Ellinghaus E, Jørgensen SF, Ersland KM, Pham KD, Gilja OH, Hovdenak N, HauskenT, Vatn MH, Franke A, Knappskog PM, Le Hellard S, Karlsen TH, Fiskerstrand T.Genetic and transcriptional analysis of inflammatory bowel disease-associatedpathways in patients with GUCY2C-linked familial diarrhea. Scand J Gastroenterol.2018 Oct 24:1-10. doi: 10.1080/00365521.2018.1521867. [Epub ahead of print]PubMed PMID: 30353760.

14: Husby A, Wohlfahrt J, Øyen N, Melbye M. Pregnancy duration and breast cancer risk. Nat Commun. 2018 Oct 23;9(1):4255. doi: 10.1038/s41467-018-06748-3. PubMed PMID: 30353005; PubMed Central PMCID: PMC6199327.

15: Høberg-Vetti H, Eide GE, Siglen E, Listøl W, Haavind MT, Hoogerbrugge N,Bjorvatn C. Cancer-related distress in unselected women with newly diagnosedbreast or ovarian cancer undergoing BRCA1/2 testing without pretest geneticcounseling. Acta Oncol. 2018 Oct 18:1-7. doi: 10.1080/0284186X.2018.1502466.[Epub ahead of print] PubMed PMID: 30334464.

16: Hughes T, Sønderby IE, Polushina T, Hansson L, Holmgren A, Athanasiu L,Melbø-Jørgensen C, Hassani S, Hoeffding LK, Herms S, Bergen SE, Karlsson R, Song J, Rietschel M, Nöthen MM, Forstner AJ, Hoffmann P, Hultman CM, Landén M, Cichon S, Werge T, Andreassen OA, Le Hellard S, Djurovic S. Elevated expression of aminor isoform of ANK3 is a risk factor for bipolar disorder. Transl Psychiatry.2018 Oct 8;8(1):210. doi: 10.1038/s41398-018-0175-x. PubMed PMID: 30297702;PubMed Central PMCID: PMC6175894.

17: van der Meer D, Rokicki J, Kaufmann T, Córdova-Palomera A, Moberget T, Alnæs D, Bettella F, Frei O, Doan NT, Sønderby IE, Smeland OB, Agartz I, Bertolino A,Bralten J, Brandt CL, Buitelaar JK, Djurovic S, van Donkelaar M, Dørum ES,Espeseth T, Faraone SV, Fernández G, Fisher SE, Franke B, Haatveit B, Hartman CA,Hoekstra PJ, Håberg AK, Jönsson EG, Kolskår KK, Le Hellard S, Lund MJ, LundervoldAJ, Lundervold A, Melle I, Monereo Sánchez J, Norbom LC, Nordvik JE, Nyberg L,Oosterlaan J, Papalino M, Papassotiropoulos A, Pergola G, de Quervain DJF,Richard G, Sanders AM, Selvaggi P, Shumskaya E, Steen VM, Tønnesen S, UlrichsenKM, Zwiers MP, Andreassen OA, Westlye LT; Alzheimer's Disease NeuroimagingInitiative; Pediatric Imaging, Neurocognition and Genetics Study. Brain scansfrom 21,297 individuals reveal the genetic architecture of hippocampal subfieldvolumes. Mol Psychiatry. 2018 Oct 2. doi: 10.1038/s41380-018-0262-7. [Epub ahead of print] PubMed PMID: 30279459.

18: Gaare JJ, Nido GS, Sztromwasser P, Knappskog PM, Dahl O, Lund-Johansen M,Maple-Grødem J, Alves G, Tysnes OB, Johansson S, Haugarvoll K, Tzoulis C. Raregenetic variation in mitochondrial pathways influences the risk for Parkinson'sdisease. Mov Disord. 2018 Oct;33(10):1591-1600. doi: 10.1002/mds.64. Epub 2018Sep 5. PubMed PMID: 30256453; PubMed Central PMCID: PMC6282592.

19: Burger B, Hernández Sánchez LF, Lereim RR, Barsnes H, Vaudel M. Analyzing theStructure of Pathways and Its Influence on the Interpretation of BiomedicalProteomics Data Sets. J Proteome Res. 2018 Nov 2;17(11):3801-3809. doi:10.1021/acs.jproteome.8b00464. Epub 2018 Oct 24. PubMed PMID: 30251541.

20: Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K,Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M,Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F,Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY,Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F,Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A,Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study,Goldstein DB, Anyane-Yeboa K. Refining the phenotype associated with GNB1mutations: Clinical data on 18 newly identified patients and review of theliterature. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi:10.1002/ajmg.a.40472. Epub 2018 Sep 8. PubMed PMID: 30194818.

21: Li K, Vaudel M, Zhang B, Ren Y, Wen B. PDV: an integrative proteomics dataviewer. Bioinformatics. 2018 Aug 30. doi: 10.1093/bioinformatics/bty770. [Epubahead of print] PubMed PMID: 30169737.

22: Håvik AL, Bruland O, Aarhus M, Kalland KH, Stokowy T, Lund-Johansen M,Knappskog PM. Screening for viral nucleic acids in vestibular schwannoma. JNeurovirol. 2018 Dec;24(6):730-737. doi: 10.1007/s13365-018-0669-6. Epub 2018 Aug30. PubMed PMID: 30168016.

23: Kaci A, Keindl M, Solheim MH, Njølstad PR, Bjørkhaug L, Aukrust I. The E3SUMO ligase PIASγ is a novel interaction partner regulating the activity ofdiabetes associated hepatocyte nuclear factor-1α. Sci Rep. 2018 Aug24;8(1):12780. doi: 10.1038/s41598-018-29448-w. PubMed PMID: 30143652,; PubMed Central PMCID: PMC6109179.

24: Akkouh IA, Ueland T, Andreassen OA, Brattbakk HR, Steen VM, Hughes T,Djurovic S. Expression of TCN1 in Blood is Negatively Associated with VerbalDeclarative Memory Performance. Sci Rep. 2018 Aug 23;8(1):12654. doi:10.1038/s41598-018-30898-5. PubMed PMID: 30139959; PubMed Central PMCID:PMC6107676.

25: Corominas J, Klein M, Zayats T, Rivero O, Ziegler GC, Pauper M, Neveling K,Poelmans G, Jansch C, Svirin E, Geissler J, Weber H, Reif A, Arias Vasquez A,Galesloot TE, Kiemeney LALM, Buitelaar JK, Ramos-Quiroga JA, Cormand B, RibasésM, Hveem K, Gabrielsen ME, Hoffmann P, Cichon S, Haavik J, Johansson S, Jacob CP,Romanos M, Franke B, Lesch KP. Identification of ADHD risk genes in extendedpedigrees by combining linkage analysis and whole-exome sequencing. MolPsychiatry. 2018 Aug 16. doi: 10.1038/s41380-018-0210-6. [Epub ahead of print]PubMed PMID: 30116028.

26: Lu Y, Beeghly-Fadiel A, Wu L, Guo X, Li B, Schildkraut JM, Im HK, Chen YA,Permuth JB, Reid BM, Teer JK, Moysich KB, Andrulis IL, Anton-Culver H, Arun BK,Bandera EV, Barkardottir RB, Barnes DR, Benitez J, Bjorge L, Brenton J, Butzow R,Caldes T, Caligo MA, Campbell I, Chang-Claude J, Claes KBM, Couch FJ, Cramer DW, Daly MB, deFazio A, Dennis J, Diez O, Domchek SM, Dörk T, Easton DF, Eccles DM,Fasching PA, Fortner RT, Fountzilas G, Friedman E, Ganz PA, Garber J, Giles GG,Godwin AK, Goldgar DE, Goodman MT, Greene MH, Gronwald J, Hamann U, Heitz F,Hildebrandt MAT, Høgdall CK, Hollestelle A, Hulick PJ, Huntsman DG, Imyanitov EN,Isaacs C, Jakubowska A, James P, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK,Kwong A, Le ND, Leslie G, Lesueur F, Levine DA, Mattiello A, May T, McGuffog L,McNeish IA, Merritt MA, Modugno F, Montagna M, Neuhausen SL, Nevanlinna H,Nielsen FC, Nikitina-Zake L, Nussbaum RL, Offit K, Olah E, Olopade OI, Olson SH, Olsson H, Osorio A, Park SK, Parsons MT, Peeters PHM, Pejovic T, Peterlongo P,Phelan CM, Pujana MA, Ramus SJ, Rennert G, Risch H, Rodriguez GC,Rodríguez-Antona C, Romieu I, Rookus MA, Rossing MA, Rzepecka IK, Sandler DP,Schmutzler RK, Setiawan VW, Sharma P, Sieh W, Simard J, Singer CF, Song H,Southey MC, Spurdle AB, Sutphen R, Swerdlow AJ, Teixeira MR, Teo SH, Thomassen M,Tischkowitz M, Toland AE, Trichopoulou A, Tung N, Tworoger SS, van Rensburg EJ,Vanderstichele A, Vega A, Edwards DV, Webb PM, Weitzel JN, Wentzensen N, White E,Wolk A, Wu AH, Yannoukakos D, Zorn KK, Gayther SA, Antoniou AC, Berchuck A, GoodeEL, Chenevix-Trench G, Sellers TA, Pharoah PDP, Zheng W, Long J. ATranscriptome-Wide Association Study Among 97,898 Women to Identify CandidateSusceptibility Genes for Epithelial Ovarian Cancer Risk. Cancer Res. 2018 Sep15;78(18):5419-5430. doi: 10.1158/0008-5472.CAN-18-0951. Epub 2018 Jul 27. PubMedPMID: 30054336; PubMed Central PMCID: PMC6139053.

27: Arntzen KA, Høyer H, Ørstavik K, Tallaksen C, Vedeler C, Østern R,Nebuchennykh M, Braathen GJ, Fagerheim T. Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence.Neuromuscul Disord. 2018 Aug;28(8):639-645. doi: 10.1016/j.nmd.2018.06.004. Epub 2018 Jun 15. PubMed PMID: 30001926.

28: Lam M, Trampush JW, Yu J, Knowles E, Djurovic S, Melle I, Sundet K,Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T,Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P,Giakoumaki S, Burdick KE, Payton A, Ollier W, Chiba-Falek O, 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, Hellard SL, Keller MC, Andreassen OA, Glahn DC, Malhotra AK, Lencz T.Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Responseto Hill (2018). Twin Res Hum Genet. 2018 Oct;21(5):394-397. doi:10.1017/thg.2018.46. Epub 2018 Jul 13. PubMed PMID: 30001766.

29: Rødahl E, Mellgren AEC, Fiskerstrand T, Knappskog PM, Boman H.ADAMTSL4-Related Eye Disorders. 2012 Feb 16 [updated 2018 Jul 5]. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2018. Available from http://www.ncbi.nlm.nih.gov/books/NBK84111/PubMed PMID: 22338190.

30: Muth T, Hartkopf F, Vaudel M, Renard BY. A Potential Golden Age toCome-Current Tools, Recent Use Cases, and Future Avenues for De Novo Sequencingin Proteomics. Proteomics. 2018 Sep;18(18):e1700150. doi: 10.1002/pmic.201700150.Epub 2018 Aug 22. Review. PubMed PMID: 29968278.

31: Savage JE, Jansen PR, Stringer S, Watanabe K, Bryois J, de Leeuw CA, Nagel M,Awasthi S, Barr PB, Coleman JRI, Grasby KL, Hammerschlag AR, Kaminski JA,Karlsson R, Krapohl E, Lam M, Nygaard M, Reynolds CA, Trampush JW, Young H,Zabaneh D, Hägg S, Hansell NK, Karlsson IK, Linnarsson S, Montgomery GW,Muñoz-Manchado AB, Quinlan EB, Schumann G, Skene NG, Webb BT, White T, Arking DE,Avramopoulos D, Bilder RM, Bitsios P, Burdick KE, Cannon TD, Chiba-Falek O,Christoforou A, Cirulli ET, Congdon E, Corvin A, Davies G, Deary IJ, DeRosse P,Dickinson D, Djurovic S, Donohoe G, Conley ED, Eriksson JG, Espeseth T, FreimerNA, Giakoumaki S, Giegling I, Gill M, Glahn DC, Hariri AR, Hatzimanolis A, KellerMC, Knowles E, Koltai D, Konte B, Lahti J, Le Hellard S, Lencz T, Liewald DC,London E, Lundervold AJ, Malhotra AK, Melle I, Morris D, Need AC, Ollier W,Palotie A, Payton A, Pendleton N, Poldrack RA, Räikkönen K, Reinvang I, RoussosP, Rujescu D, Sabb FW, Scult MA, Smeland OB, Smyrnis N, Starr JM, Steen VM,Stefanis NC, Straub RE, Sundet K, Tiemeier H, Voineskos AN, Weinberger DR, Widen E, Yu J, Abecasis G, Andreassen OA, Breen G, Christiansen L, Debrabant B, DickDM, Heinz A, Hjerling-Leffler J, Ikram MA, Kendler KS, Martin NG, Medland SE,Pedersen NL, Plomin R, Polderman TJC, Ripke S, van der Sluis S, Sullivan PF,Vrieze SI, Wright MJ, Posthuma D. Genome-wide association meta-analysis in269,867 individuals identifies new genetic and functional links to intelligence. Nat Genet. 2018 Jul;50(7):912-919. doi: 10.1038/s41588-018-0152-6. Epub 2018 Jun 25. PubMed PMID: 29942086.

32: Brainstorm Consortium, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA,Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E,Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E,St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG,Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G,Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S,Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J,Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M,Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, WinsvoldB, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM,Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimäki T, Wedenoja J,Buring JE, Schürks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, KaunistoM, Vepsäläinen S, Martin NG, Montgomery GW, Kurki MI, Hämäläinen E, Huang H,Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A,Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg AMJM, Zwart JA, Boomsma D,Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S,Bradfield J, Buono R, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz WS, LercheH, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller RS, Molloy A, NgPW, Oliver K, Privitera M, Radtke 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46: 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, MascaNGD, Manning AK, Medina-Gomez C, Mudgal P, Ng MCY, Reiner AP, Vedantam S, WillemsSM, 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, BrilliantMH, 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, GibsonJ, 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, MännistöS, 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 LoohuisLM, 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, PeyserPA, 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, VarmaR, 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, ZhouW, Zondervan KT, Rotter JI, Pospisilik JA, Rivadeneira F, Borecki IB, Deloukas P,Frayling TM, Lettre G, North KE, Lindgren CM, Hirschhorn JN, Loos RJF; CHD Exome+Consortium; EPIC-CVD Consortium; ExomeBP Consortium; Global Lipids GeneticConsortium; GoT2D Genes Consortium; EPIC InterAct Consortium; INTERVAL Study;ReproGen Consortium; T2D-Genes Consortium; MAGIC Investigators; UnderstandingSociety Scientific Group. 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47: Tvedt THA, Hovland R, Tsykunova G, Ahmed AB, Gedde-Dahl T, Bruserud Ø. Apilot study of single nucleotide polymorphisms in the interleukin-6 receptor and their effects on pre- and post-transplant serum mediator level and outcome after allogeneic stem cell transplantation. Clin Exp Immunol. 2018 Jul;193(1):130-141. doi: 10.1111/cei.13124. Epub 2018 Apr 1. PubMed PMID: 29513361; PubMed CentralPMCID: PMC6037994.

48: Hoseth EZ, Krull F, Dieset I, Mørch RH, Hope S, Gardsjord ES, Steen NE, MelleI, Brattbakk HR, Steen VM, Aukrust P, Djurovic S, Andreassen OA, Ueland T.Exploring the Wnt signaling pathway in schizophrenia and bipolar disorder. TranslPsychiatry. 2018 Mar 6;8(1):55. doi: 10.1038/s41398-018-0102-1. PubMed PMID:29507296; PubMed Central PMCID: PMC5838215.

49: Menke LA; DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S,Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC. Further delineation of anentity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybisyndrome. Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626.Epub 2018 Feb 20. PubMed PMID: 29460469.

50: Stige KE, Gjerde IO, Houge G, Knappskog PM, Tzoulis C. Beta-propellerprotein-associated neurodegeneration: a case report and review of the literature.Clin Case Rep. 2018 Jan 4;6(2):353-362. doi: 10.1002/ccr3.1358. eCollection 2018 Feb. PubMed PMID: 29445477; PubMed Central PMCID: PMC5799652.

51: Berland S, Toft-Bertelsen TL, Aukrust I, Byska J, Vaudel M, Bindoff LA,MacAulay N, Houge G. A de novo Ser111Thr variant in aquaporin-4 in a patient withintellectual disability, transient signs of brain ischemia, transient cardiachypertrophy, and progressive gait disturbance. Cold Spring Harb Mol Case Stud.2018 Feb 1;4(1). pii: a002303. doi: 10.1101/mcs.a002303. Print 2018 Feb. PubMedPMID: 29437797; PubMed Central PMCID: PMC5793774.

52: Haug MG, Brendehaug A, Houge G, Kagami M, Ogata T. Mosaic upd(14)pat in apatient with mild features of Kagami-Ogata syndrome. Clin Case Rep. 2017 Nov28;6(1):91-95. doi: 10.1002/ccr3.1300. eCollection 2018 Jan. PubMed PMID:29375845; PubMed Central PMCID: PMC5771875.

53: Gaare JJ, Nido GS, Sztromwasser P, Knappskog PM, Dahl O, Lund-Johansen M,Alves G, Tysnes OB, Johansson S, Haugarvoll K, Tzoulis C. No evidence for rareTRAP1 mutations influencing the risk of idiopathic Parkinson's disease. Brain.2018 Jan 24. doi: 10.1093/brain/awx378. [Epub ahead of print] PubMed PMID:29373637; PubMed Central PMCID: PMC5837630.

54: Brodwall K, Greve G, Leirgul E, Klungsøyr K, Holmstrøm H, Vollset SE, Øyen N.The five-year survival of children with Down syndrome in Norway 1994-2009differed by associated congenital heart defects and extracardiac malformations.Acta Paediatr. 2018 May;107(5):845-853. doi: 10.1111/apa.14223. Epub 2018 Feb 7. PubMed PMID: 29341296.

55: Boyd HA, Basit S, Wohlfahrt J, Øyen N. Response by Boyd et al to LetterRegarding Article, "Association Between Fetal Congenital Heart Defects andMaternal Risk of Hypertensive Disorders of Pregnancy in the Same Pregnancy andAcross Pregnancies". Circulation. 2018 Jan 2;137(1):97-98. doi:10.1161/CIRCULATIONAHA.117.031548. PubMed PMID: 29279343.

56: 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, MascaNGD, Manning AK, Medina-Gomez C, Mudgal P, Ng MCY, Reiner AP, Vedantam S, WillemsSM, 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, BrilliantMH, 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, Di 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, GibsonJ, 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, MännistöS, 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 LoohuisLM, 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, PeyserPA, 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, VarmaR, 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, ZhaoW, Zhou W, Zondervan KT, Rotter JI, Pospisilik JA, Rivadeneira F, Borecki IB,Deloukas P, Frayling TM, Lettre G, North KE, Lindgren CM, Hirschhorn JN, LoosRJF; CHD Exome+ Consortium; EPIC-CVD Consortium; ExomeBP Consortium; GlobalLipids Genetic Consortium; GoT2D Genes Consortium; EPIC InterAct Consortium;INTERVAL Study; ReproGen Consortium; T2D-Genes Consortium; MAGIC Investigators;Understanding Society Scientific Group. 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57: Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E,Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M,Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV,Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. HUWE1variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. PubMed PMID: 29180823; PubMed Central PMCID: PMC5788272.

58: Gansmo LB, Romundstad P, Hveem K, Vatten L, Nik-Zainal S, Lønning PE,Knappskog S. APOBEC3A/B deletion polymorphism and cancer risk. Carcinogenesis.2018 Feb 9;39(2):118-124. doi: 10.1093/carcin/bgx131. PubMed PMID: 29140415;PubMed Central PMCID: PMC5862322.

59: Eriksson D, Dalin F, Eriksson GN, Landegren N, Bianchi M, Hallgren Å,Dahlqvist P, Wahlberg J, Ekwall O, Winqvist O, Catrina SB, Rönnelid J; SwedishAddison Registry Study Group, Hulting AL, Lindblad-Toh K, Alimohammadi M, HusebyeES, Knappskog PM, Rosengren Pielberg G, Bensing S, Kämpe O. Cytokine AutoantibodyScreening in the Swedish Addison Registry Identifies Patients With UndiagnosedAPS1. J Clin Endocrinol Metab. 2018 Jan 1;103(1):179-186. doi:10.1210/jc.2017-01957. PubMed PMID: 29069385.

60: 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; PubMed Central PMCID: PMC5749303.

61: Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA. Erratum to: The presence ofanaemia negatively influences survival in patients with POLG disease. J InheritMetab Dis. 2018 Jan;41(1):153. doi: 10.1007/s10545-017-0092-9. PubMed PMID:28952135.

62: Håvik AL, Bruland O, Myrseth E, Miletic H, Aarhus M, Knappskog PM,Lund-Johansen M. Genetic landscape of sporadic vestibular schwannoma. JNeurosurg. 2018 Mar;128(3):911-922. doi: 10.3171/2016.10.JNS161384. Epub 2017 Apr14. PubMed PMID: 28409725.

 


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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

Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, Fine RS, Lu Y, Schurmann C, Highland HM, Rüeger S, Thorleifsson G, Justice AE, Lamparter D, Stirrups KE, Turcot V, Young KL, Winkler TW, Esko T, Karaderi T, Locke AE, Masca NG, Ng MC, Mudgal P, Rivas MA, Vedantam S, Mahajan A, Guo X, Abecasis G, Aben KK, Adair LS, Alam DS, Albrecht E, Allin KH, Allison M, Amouyel P, Appel EV, Arveiler D, Asselbergs FW, Auer PL, Balkau B, Banas B, Bang LE, Benn M, Bergmann S, Bielak LF, Blüher M, Boeing H, Boerwinkle E, Böger CA, Bonnycastle LL, Bork-Jensen J,Bots ML, Bottinger EP, Bowden DW, Brandslund I, Breen G, Brilliant MH, Broer L, Burt AA, Butterworth AS, Carey DJ, Caulfield MJ, Chambers JC, Chasman DI, Chen YI, Chowdhury R, Christensen C, Chu AY, Cocca M, Collins FS, Cook JP, Corley J, Galbany JC, Cox AJ, Cuellar-Partida G, Danesh J, Davies G, de Bakker PI, de Borst GJ, de Denus S, de Groot MC, de Mutsert R, Deary IJ, Dedoussis G, Demerath EW, den Hollander AI, Dennis JG, Di Angelantonio E, Drenos F, Du M, Dunning AM, Easton DF, Ebeling T, Edwards TL, Ellinor PT, Elliott P, Evangelou E, Farmaki AE, Faul JD, Feitosa MF, Feng S, Ferrannini E, Ferrario MM, Ferrieres J, Florez JC,Ford I, Fornage M, Franks PW, Frikke-Schmidt R, Galesloot TE, Gan W, Gandin I,Gasparini P, Giedraitis V, Giri A, Girotto G, Gordon SD, Gordon-Larsen P, Gorski M, Grarup N, Grove ML, Gudnason V, Gustafsson S, Hansen T, Harris KM, Harris TB, Hattersley AT, Hayward C, He L, Heid IM, Heikkilä K, Helgeland Ø, Hernesniemi J, Hewitt AW, Hocking LJ, Hollensted M, Holmen OL, Hovingh GK, Howson JM, Hoyng CB, Huang PL, Hveem K, Ikram MA, Ingelsson E, Jackson AU, Jansson JH, Jarvik GP, Jensen GB, Jhun MA, Jia Y, Jiang X, Johansson S, Jørgensen ME, Jørgensen T, Jousilahti P, Jukema JW, Kahali B, Kahn RS, Kähönen M, Kamstrup PR, Kanoni S, Kaprio J, Karaleftheri M, Kardia SL, Karpe F, Kee F, Keeman R, Kiemeney LA, Kitajima H, Kluivers KB, Kocher T, Komulainen P, Kontto J, Kooner JS, Kooperberg C, Kovacs P, Kriebel J, Kuivaniemi H, Küry S, Kuusisto J, La Bianca M, Laakso M, Lakka TA, Lange EM, Lange LA, Langefeld CD, Langenberg C, Larson EB, Lee IT, Lehtimäki T, Lewis CE, Li H, Li J, Li-Gao R, Lin H, Lin LA, Lin X, Lind L,Lindström J, Linneberg A, Liu Y, Liu Y, Lophatananon A, Luan J, Lubitz SA, Lyytikäinen LP, Mackey DA, Madden PA, Manning AK, Männistö S, Marenne G, Marten J, Martin NG, Mazul AL, Meidtner K, Metspalu A, Mitchell P, Mohlke KL, Mook-Kanamori DO, Morgan A, Morris AD, Morris AP, Müller-Nurasyid M, Munroe PB, Nalls MA, Nauck M, Nelson CP, Neville M, Nielsen SF, Nikus K, Njølstad PR, Nordestgaard BG, Ntalla I, O'Connel JR, Oksa H, Loohuis LM, Ophoff RA, Owen KR, Packard CJ, Padmanabhan S, Palmer CN, Pasterkamp G, Patel AP, Pattie A, Pedersen O, Peissig PL, Peloso GM, Pennell CE, Perola M, Perry JA, Perry JR, Person TN, Pirie A, Polasek O, Posthuma D, Raitakari OT, Rasheed A, Rauramaa R, Reilly DF, Reiner AP, Renström F, Ridker PM, Rioux JD, Robertson N, Robino A, Rolandsson O, Rudan I, Ruth KS, Saleheen D, Salomaa V, Samani NJ, Sandow K, Sapkota Y, Sattar N, Schmidt MK, Schreiner PJ, Schulze MB, Scott RA, Segura-Lepe MP, Shah S, Sim X, Sivapalaratnam S, Small KS, Smith AV, Smith JA, Southam L, Spector TD, Speliotes EK, Starr JM, Steinthorsdottir V, Stringham HM, Stumvoll M, Surendran P, 't Hart LM, Tansey KE, Tardif JC, Taylor KD, Teumer A, Thompson DJ, Thorsteinsdottir U, Thuesen BH, Tönjes A, Tromp G, Trompet S, Tsafantakis E, Tuomilehto J, Tybjaerg-Hansen A, Tyrer JP, Uher R, Uitterlinden AG, Ulivi S, van der Laan SW, Van Der Leij AR, van Duijn CM, van Schoor NM, van Setten J, Varbo A, Varga TV, Varma R, Edwards DR, Vermeulen SH, Vestergaard H, Vitart V, Vogt TF, Vozzi D,Walker M, Wang F, Wang CA, Wang S, Wang Y, Wareham NJ, Warren HR, Wessel J,Willems SM, Wilson JG, Witte DR, Woods MO, Wu Y, Yaghootkar H, Yao J, Yao P,Yerges-Armstrong LM, Young R, Zeggini E, Zhan X, Zhang W, Zhao JH, Zhao W,Zhao W, Zheng H, Zhou W; EPIC-InterAct Consortium; CHD Exome+ Consortium; ExomeBPConsortium; T2D-Genes Consortium; GoT2D Genes Consortium; Global Lipids Genetics Consortium; ReproGen Consortium; MAGIC Investigators, Rotter JI, Boehnke M,Kathiresan S, McCarthy MI, Willer CJ, Stefansson K, Borecki IB, Liu DJ, North KE, Heard-Costa NL, Pers TH, Lindgren CM, Oxvig C, Kutalik Z, Rivadeneira F, Loos RJ, Frayling TM, Hirschhorn JN, Deloukas P, Lettre G. Rare and low-frequency coding variants alter human adult height. Nature. 2017 Feb 9;542(7640):186-190. doi:10.1038/nature21039. Epub 2017 Feb 1. PubMed PMID: 28146470; PubMed Central PMCID: PMC5302847. 

Marti AR, Patil S, Mrdalj J, Meerlo P, Skrede S, Pallesen S, Pedersen TT, Bramham CR, Grønli J. No Escaping the Rat Race: Simulated Night Shift Work Alters the Time-of-Day Variation in BMAL1 Translational Activity in the Prefrontal Cortex. Front Neural Circuits. 2017 Oct 4;11:70. doi: 10.3389/fncir.2017.00070. eCollection 2017. PubMed PMID: 29085284; PubMed Central PMCID: PMC5649179. 

Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. Eur J Hum Genet. 2017 Nov 27. doi: 10.1038/s41431-017-0038-6. [Epubahead of print] PubMed PMID: 29180823.

 

Myrum C, Soulé J, Bittins M, Cavagnini K, Goff K, Ziemek SK, Eriksen MS, PatilS, Szum A, Nair RR, Bramham CR. Arc Interacts with the Integral Endoplasmic Reticulum Protein, Calnexin. Front Cell Neurosci. 2017 Sep 20;11:294. doi:10.3389/fncel.2017.00294. eCollection 2017. PubMed PMID: 28979192; PubMed CentralPMCID: PMC5611444.

 

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. Epub 2016 Nov 29. PubMed PMID: 27899486

Neveling K, Mensenkamp AR, Derks R, Kwint M, Ouchene H, Steehouwer M, van Lier B, Bosgoed E, Rikken A, Tychon M, Zafeiropoulou D, Castelein S, Hehir-Kwa J, Tjwan Thung D, Hofste T, Lelieveld SH, Bertens SM, Adan IB, Eijkelenboom A, Tops BB, Yntema H, Stokowy T, Knappskog PM, Høberg-Vetti H, Steen VM, Boyle E, Martin B, Ligtenberg MJ, Shendure J, Nelen MR, Hoischen A. BRCA Testing by Single-Molecule Molecular Inversion Probes. Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14. PubMed PMID: 27974384

Ngcungcu T, Oti M, Sitek JC, Haukanes BI, Linghu B, Bruccoleri R, Stokowy T, Oakeley EJ, Yang F, Zhu J, Sultan M, Schalkwijk J, van Vlijmen-Willems IMJJ, von der Lippe C, Brunner HG, Ersland KM, Grayson W, Buechmann-Moller S, Sundnes O, Nirmala N, Morgan TM, van Bokhoven H, Steen VM, Hull PR, Szustakowski J, Staedtler F, Zhou H, Fiskerstrand T, Ramsay M. Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. Am J Hum Genet. 2017 May 4;100(5):737-750.  doi: 10.1016/j.ajhg.2017.03.012. Epub 2017 Apr 27. PubMed PMID: 28457472; PubMed Central PMCID: PMC5420352.

 

 

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Orlova EM, Sozaeva LS, Kareva MA, Oftedal BE, Wolff ASB, Breivik L, Zakharova EY, Ivanova ON, Kämpe O, Dedov II, Knappskog PM, Peterkova VA, Husebye ES. Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3546-3556. doi: 10.1210/jc.2017-00139. PubMed PMID: 28911151.

 

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Pakdaman Y, Sanchez-Guixé M, Kleppe R, Erdal S, Bustad HJ, Bjørkhaug L, Haugarvoll K, Tzoulis C, Heimdal K, Knappskog PM, Johansson S, Aukrust I. In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Biosci Rep. 2017 Apr 28;37(2). pii: BSR20170251. doi: 10.1042/BSR20170251. Print 2017 Apr 30. PubMed PMID: 28396517; PubMed Central PMCID: PMC5408658. 

Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC Jr, Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J, Leslie G, Aalfs CM, Aben KKH, Adams M, Adlard J, Andrulis IL, Anton-Culver H, Antonenkova N; AOCS study group, Aravantinos G, Arnold N, Arun BK, Arver B, Azzollini J, Balmaña J, Banerjee SN, Barjhoux L, Barkardottir RB, Bean Y, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Birrer MJ, Bjorge L, Black A, Blankstein K, Blok MJ, Bodelon C, Bogdanova N, Bojesen A, Bonanni B, Borg Å, Bradbury AR, Brenton JD, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Bruinsma F, Brunet J, Buecher B, Butzow R, Buys SS, Caldes T, Caligo MA, Campbell I, Cannioto R, Carney ME, Cescon T, Chan SB, Chang-Claude J, Chanock S, Chen XQ, Chiew YE, Chiquette J, Chung WK, Claes KBM, Conner T, Cook LS, Cook J, Cramer DW, Cunningham JM, D'Aloisio AA, Daly MB, Damiola F, Damirovna SD, Dansonka-Mieszkowska A, Dao F, Davidson R, DeFazio A, Delnatte C, Doheny KF, Diez O, Ding YC, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dossus L, Duran M, Dürst M, Dworniczak B, Eccles D, Edwards T, Eeles R, Eilber U, Ejlertsen B, Ekici AB, Ellis S, Elvira M; EMBRACE Study, Eng KH, Engel C, Evans DG, Fasching PA, Ferguson S, Ferrer SF, Flanagan JM, Fogarty ZC, Fortner RT, Fostira F, Foulkes WD, Fountzilas G, Fridley BL, Friebel TM, Friedman E, Frost D, Ganz PA, Garber J, García MJ, Garcia-Barberan V, Gehrig A; GEMO Study Collaborators, Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goldgar DE, Goranova T, Gore M, Greene MH, Gronwald J, Gruber S, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harrington PA, Harris HR, Hauke J; HEBON Study, Hein A, Henderson A, Hildebrandt MAT, Hillemanns P, Hodgson S, Høgdall CK, Høgdall E, Hogervorst FBL, Holland H, Hooning MJ, Hosking K, Huang RY, Hulick PJ, Hung J, Hunter DJ, Huntsman DG, Huzarski T, Imyanitov EN, Isaacs C, Iversen ES, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jernetz M, Jensen A, Jensen UB, John EM, Johnatty S, Jones ME, Kannisto P, Karlan BY, Karnezis A, Kast K; KConFab Investigators, Kennedy CJ, Khusnutdinova E, Kiemeney LA, Kiiski JI, Kim SW, Kjaer SK, Köbel M, Kopperud RK, Kruse TA, Kupryjanczyk J, Kwong A, Laitman Y, Lambrechts D, Larrañaga N, Larson MC, Lazaro C, Le ND, Le Marchand L, Lee JW, Lele SB, Leminen A, Leroux D, Lester J, Lesueur F, Levine DA, Liang D, Liebrich C, Lilyquist J, Lipworth L, Lissowska J, Lu KH, Lubinński J, Luccarini C, Lundvall L, Mai PL, Mendoza-Fandiño G, Manoukian S, Massuger LFAG, May T, Mazoyer S, McAlpine JN, McGuire V, McLaughlin JR, McNeish I, Meijers-Heijboer H, Meindl A, Menon U, Mensenkamp AR, Merritt MA, Milne RL, Mitchell G, Modugno F, Moes-Sosnowska J, Moffitt M, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Nathanson KL, Nedergaard L, Ness RB, Neuhausen SL, Nevanlinna H, Niederacher D, Nussbaum RL, Odunsi K, Olah E, Olopade OI, Olsson H, Olswold C, O'Malley DM, Ong KR, Onland-Moret NC; OPAL study group, Orr N, Orsulic S, Osorio A, Palli D, Papi L, Park-Simon TW, Paul J, Pearce CL, Pedersen IS, Peeters PHM, Peissel B, Peixoto A, Pejovic T, Pelttari LM, Permuth JB, Peterlongo P, Pezzani L, Pfeiler G, Phillips KA, Piedmonte M, Pike MC, Piskorz AM, Poblete SR, Pocza T, Poole EM, Poppe B, Porteous ME, Prieur F, Prokofyeva D, Pugh E, Pujana MA, Pujol P, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rhiem K, Rice P, Richardson A, Robson M, Rodriguez GC, Rodríguez-Antona C, Romm J, Rookus MA, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Salvesen HB, Sandler DP, Schoemaker MJ, Senter L, Setiawan VW, Severi G, Sharma P, Shelford T, Siddiqui N, Side LE, Sieh W, Singer CF, Sobol H, Song H, Southey MC, Spurdle AB, Stadler Z, Steinemann D, Stoppa-Lyonnet D, Sucheston-Campbell LE, Sukiennicki G, Sutphen R, Sutter C, Swerdlow AJ, Szabo CI, Szafron L, Tan YY, Taylor JA, Tea MK, Teixeira MR, Teo SH, Terry KL, Thompson PJ, Thomsen LCV, Thull DL, Tihomirova L, Tinker AV, Tischkowitz M, Tognazzo S, Toland AE, Tone A, Trabert B, Travis RC, Trichopoulou A, Tung N, Tworoger SS, van Altena AM, Van Den Berg D, van der Hout AH, van der Luijt RB, Van Heetvelde M, Van Nieuwenhuysen E, van Rensburg EJ, Vanderstichele A, Varon-Mateeva R, Vega A, Edwards DV, Vergote I, Vierkant RA, Vijai J, Vratimos A, Walker L, Walsh C, Wand D, Wang-Gohrke S, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, Whittemore AS, Wijnen JT, Wilkens LR, Wolk A, Woo M, Wu X, Wu AH, Yang H, Yannoukakos D, Ziogas A, Zorn KK, Narod SA, Easton DF, Amos CI, Schildkraut JM, Ramus SJ, Ottini L, Goodman MT, Park SK, Kelemen LE, Risch HA, Thomassen M, Offit K, Simard J, Schmutzler RK, Hazelett D, Monteiro AN, Couch FJ, Berchuck A, Chenevix-Trench G, Goode EL, Sellers TA, Gayther SA, Antoniou AC, Pharoah PDP. 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Reikvam H, Hovland R, Forthun RB, Erdal S, Gjertsen BT, Fredly H, Bruserud Ø. Disease-stabilizing treatment based on all-trans retinoic acid and valproic acid in acute myeloid leukemia - identification of responders by gene expression profiling of pretreatment leukemic cells. BMC Cancer. 2017 Sep 6;17(1):630. doi: 10.1186/s12885-017-3620-y. PubMed PMID: 28877686; PubMed Central PMCID: PMC5586053.

 

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Sagen JV, Bjørkhaug L, Haukanes BI, Grevle L, Molnes J, Nedrebø BG, Søvik O, Njølstad PR, Johansson S, Molven A. The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes. Diabetes Res Clin Pract. 2017 Nov;133:142-149. doi: 10.1016/j.diabres.2017.08.001. Epub 2017 Sep 1. PubMed PMID: 28934671

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. 

Skrunes R, Tøndel C, Leh S, Larsen KK, Houge G, Davidsen ES, Hollak C, van Kuilenburg ABP, Vaz FM, Svarstad E. Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease. Clin J Am Soc Nephrol. 2017 Sep 7;12(9):1470-1479. doi: 10.2215/CJN.01820217. Epub 2017 Jun 16. PubMed PMID: 28625968; PubMed Central PMCID: PMC5586567. 

Steen VM, Skrede S, Polushina T, López M, Andreassen OA, Fernø J, Hellard SL. Genetic evidence for a role of the SREBP transcription system and lipid biosynthesis in schizophrenia and antipsychotic treatment. Eur Neuropsychopharmacol. 2017 Jun;27(6):589-598. doi: 0.1016/j.euroneuro.2016.07.011. Epub 2016 Aug 1. PubMed PMID: 27492885

Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21. PubMed PMID: 28635954; PubMed Central PMCID: PMC5558181.

 

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Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium, Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4. PubMed PMID: 28777491

Trampush JW, Yang ML, 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, Horan M, 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. GWAS meta-analysisreveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. Mol Psychiatry. 2017 Mar;22(3):336-345. doi: 10.1038/mp.2016.244. Epub 2017 Jan 17. Erratum in: Mol Psychiatry. 2017Nov;22(11):1651-1652.  PubMed PMID: 28093568; PubMed Central PMCID: PMC5322272.  

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. 

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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;
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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


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