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Page 1
The Scalable Variant Call Representation: Enabling Genetic Analysis Beyond One Million Genomes.
Poterba T, Vittal C, King D, Goldstein D, Goldstein JI, Schultz P, Karczewski KJ, Seed C, Neale BM. Poterba T, et al. Among authors: goldstein ji. bioRxiv [Preprint]. 2024 Jan 10:2024.01.09.574205. doi: 10.1101/2024.01.09.574205. bioRxiv. 2024. Update in: Bioinformatics. 2024 Dec 24:btae746. doi: 10.1093/bioinformatics/btae746 PMID: 38260295 Free PMC article. Updated. Preprint.
zCall: a rare variant caller for array-based genotyping: genetics and population analysis.
Goldstein JI, Crenshaw A, Carey J, Grant GB, Maguire J, Fromer M, O'Dushlaine C, Moran JL, Chambert K, Stevens C; Swedish Schizophrenia Consortium; ARRA Autism Sequencing Consortium; Sklar P, Hultman CM, Purcell S, McCarroll SA, Sullivan PF, Daly MJ, Neale BM. Goldstein JI, et al. Bioinformatics. 2012 Oct 1;28(19):2543-5. doi: 10.1093/bioinformatics/bts479. Epub 2012 Jul 27. Bioinformatics. 2012. PMID: 22843986 Free PMC article.
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.
Karczewski KJ, Solomonson M, Chao KR, Goodrich JK, Tiao G, Lu W, Riley-Gillis BM, Tsai EA, Kim HI, Zheng X, Rahimov F, Esmaeeli S, Grundstad AJ, Reppell M, Waring J, Jacob H, Sexton D, Bronson PG, Chen X, Hu X, Goldstein JI, King D, Vittal C, Poterba T, Palmer DS, Churchhouse C, Howrigan DP, Zhou W, Watts NA, Nguyen K, Nguyen H, Mason C, Farnham C, Tolonen C, Gauthier LD, Gupta N, MacArthur DG, Rehm HL, Seed C, Philippakis AA, Daly MJ, Davis JW, Runz H, Miller MR, Neale BM. Karczewski KJ, et al. Among authors: goldstein ji. Cell Genom. 2022 Aug 15;2(9):100168. doi: 10.1016/j.xgen.2022.100168. eCollection 2022 Sep 14. Cell Genom. 2022. PMID: 36778668 Free PMC article.
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.
Robinson EB, St Pourcain B, Anttila V, Kosmicki JA, Bulik-Sullivan B, Grove J, Maller J, Samocha KE, Sanders SJ, Ripke S, Martin J, Hollegaard MV, Werge T, Hougaard DM; iPSYCH-SSI-Broad Autism Group; Neale BM, Evans DM, Skuse D, Mortensen PB, Børglum AD, Ronald A, Smith GD, Daly MJ. Robinson EB, et al. Nat Genet. 2016 May;48(5):552-5. doi: 10.1038/ng.3529. Epub 2016 Mar 21. Nat Genet. 2016. PMID: 26998691 Free PMC article.
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki M, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman C, Neale BM. Ganna A, et al. Among authors: goldstein ji. Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 3. Nat Neurosci. 2016. PMID: 27694993 Free PMC article.
Genome-wide association study of school grades identifies genetic overlap between language ability, psychopathology and creativity.
Rajagopal VM, Ganna A, Coleman JRI, Allegrini A, Voloudakis G, Grove J, Als TD, Horsdal HT, Petersen L, Appadurai V, Schork A, Buil A, Bulik CM, Bybjerg-Grauholm J, Bækvad-Hansen M, Hougaard DM, Mors O, Nordentoft M, Werge T; iPSYCH-Broad Consortium; Mortensen PB, Breen G, Roussos P, Plomin R, Agerbo E, Børglum AD, Demontis D. Rajagopal VM, et al. Sci Rep. 2023 Jan 9;13(1):429. doi: 10.1038/s41598-022-26845-0. Sci Rep. 2023. PMID: 36624241 Free PMC article.
A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder.
Martin J, Walters RK, Demontis D, Mattheisen M, Lee SH, Robinson E, Brikell I, Ghirardi L, Larsson H, Lichtenstein P, Eriksson N; 23andMe Research Team; Psychiatric Genomics Consortium: ADHD Subgroup; iPSYCH–Broad ADHD Workgroup; Werge T, Mortensen PB, Pedersen MG, Mors O, Nordentoft M, Hougaard DM, Bybjerg-Grauholm J, Wray NR, Franke B, Faraone SV, O'Donovan MC, Thapar A, Børglum AD, Neale BM. Martin J, et al. Biol Psychiatry. 2018 Jun 15;83(12):1044-1053. doi: 10.1016/j.biopsych.2017.11.026. Epub 2017 Dec 2. Biol Psychiatry. 2018. PMID: 29325848 Free PMC article.
Disentangling polygenic associations between attention-deficit/hyperactivity disorder, educational attainment, literacy and language.
Verhoef E, Demontis D, Burgess S, Shapland CY, Dale PS, Okbay A, Neale BM, Faraone SV; iPSYCH-Broad-PGC ADHD Consortium; Stergiakouli E, Davey Smith G, Fisher SE, Børglum AD, St Pourcain B. Verhoef E, et al. Transl Psychiatry. 2019 Jan 24;9(1):35. doi: 10.1038/s41398-018-0324-2. Transl Psychiatry. 2019. PMID: 30679418 Free PMC article.
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero EE, Dias C; Autism Sequencing Consortium; iPSYCH-Broad Consortium; Betancur C, Cook EH, Gallagher L, Gill M, Sutcliffe JS, Thurm A, Zwick ME, Børglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD. Satterstrom FK, et al. Cell. 2020 Feb 6;180(3):568-584.e23. doi: 10.1016/j.cell.2019.12.036. Epub 2020 Jan 23. Cell. 2020. PMID: 31981491 Free PMC article.
72 results