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Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions.
Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O'Donovan M, Sullivan P; Psychiatric Genomic Consortium Schizophrenia and CNV workgroup; Brain Somatic Mosaicism Network; Sebat J, Lee EA, Walsh CA. Maury EA, et al. Cell Genom. 2023 Jul 6;3(8):100356. doi: 10.1016/j.xgen.2023.100356. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601975 Free PMC article.
Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia.
Hsu YH, Pintacuda G, Liu R, Nacu E, Kim A, Tsafou K, Petrossian N, Crotty W, Suh JM, Riseman J, Martin JM, Biagini JC, Mena D, Ching JKT, Malolepsza E, Li T, Singh T, Ge T, Egri SB, Tanenbaum B, Stanclift CR, Apffel AM; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Stanley Global Asia Initiatives; Carr SA, Schenone M, Jaffe J, Fornelos N, Huang H, Eggan KC, Lage K. Hsu YH, et al. iScience. 2023 Apr 18;26(5):106701. doi: 10.1016/j.isci.2023.106701. eCollection 2023 May 19. iScience. 2023. PMID: 37207277 Free PMC article.
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Gilfillan GD, et al. Among authors: mattingsdal m. Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13. Am J Hum Genet. 2008. PMID: 18342287 Free PMC article.
Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.
Wangensteen T, Kolsgaard ML, Mattingsdal M, Joner G, Tonstad S, Undlien D, Retterstol L. Wangensteen T, et al. Among authors: mattingsdal m. Exp Clin Endocrinol Diabetes. 2009 Jun;117(6):266-73. doi: 10.1055/s-0028-1102942. Epub 2009 Mar 19. Exp Clin Endocrinol Diabetes. 2009. PMID: 19301229 Clinical Trial.
Up-regulation of NOTCH4 gene expression in bipolar disorder.
Dieset I, Djurovic S, Tesli M, Hope S, Mattingsdal M, Michelsen A, Joa I, Larsen TK, Agartz I, Melle I, Røssberg JI, Aukrust P, Andreassen OA, Ueland T. Dieset I, et al. Among authors: mattingsdal m. Am J Psychiatry. 2012 Dec;169(12):1292-300. doi: 10.1176/appi.ajp.2012.11091431. Am J Psychiatry. 2012. PMID: 23212060
Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate.
Andreassen OA, Thompson WK, Schork AJ, Ripke S, Mattingsdal M, Kelsoe JR, Kendler KS, O'Donovan MC, Rujescu D, Werge T, Sklar P; Psychiatric Genomics Consortium (PGC); Bipolar Disorder and Schizophrenia Working Groups; Roddey JC, Chen CH, McEvoy L, Desikan RS, Djurovic S, Dale AM. Andreassen OA, et al. Among authors: mattingsdal m. PLoS Genet. 2013 Apr;9(4):e1003455. doi: 10.1371/journal.pgen.1003455. Epub 2013 Apr 25. PLoS Genet. 2013. PMID: 23637625 Free PMC article.
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A, Holmans PA, Pinto D, Gujral M, Brandler WM, Malhotra D, Wang Z, Fajarado KVF, Maile MS, Ripke S, Agartz I, Albus M, Alexander M, Amin F, Atkins J, Bacanu SA, Belliveau RA Jr, Bergen SE, Bertalan M, Bevilacqua E, Bigdeli TB, Black DW, Bruggeman R, Buccola NG, Buckner RL, Bulik-Sullivan B, Byerley W, Cahn W, Cai G, Cairns MJ, Campion D, Cantor RM, Carr VJ, Carrera N, Catts SV, Chambert KD, Cheng W, Cloninger CR, Cohen D, Cormican P, Craddock N, Crespo-Facorro B, Crowley JJ, Curtis D, Davidson M, Davis KL, Degenhardt F, Del Favero J, DeLisi LE, Dikeos D, Dinan T, Djurovic S, Donohoe G, Drapeau E, Duan J, Dudbridge F, Eichhammer P, Eriksson J, Escott-Price V, Essioux L, Fanous AH, Farh KH, Farrell MS, Frank J, Franke L, Freedman R, Freimer NB, Friedman JI, Forstner AJ, Fromer M, Genovese G, Georgieva L, Gershon ES, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, Gratten J, de Haan L, Hamshere ML, Hansen M, Hansen T, Haroutunian V, Hartmann AM, Henskens FA, Herms S, Hirschhorn JN, Hoffmann P, Hofman A, Huang H, Ikeda M, Joa I, Kähler AK, Kahn RS, Kalaydjieva L, Karjalainen J, Kavanagh … See abstract for full author list ➔ Marshall CR, et al. Among authors: mattingsdal m. Nat Genet. 2017 Jan;49(1):27-35. doi: 10.1038/ng.3725. Epub 2016 Nov 21. Nat Genet. 2017. PMID: 27869829 Free PMC article.
94 results