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Page 1
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.
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC; Autism Sequencing Consortium (ASC); Broad Institute Center for Common Disease Genomics (Broad-CCDG); iPSYCH-BROAD Consortium; Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. Fu JM, et al. Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982160 Free PMC article.
Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.
Demontis D, Walters GB, Athanasiadis G, Walters R, Therrien K, Nielsen TT, Farajzadeh L, Voloudakis G, Bendl J, Zeng B, Zhang W, Grove J, Als TD, Duan J, Satterstrom FK, Bybjerg-Grauholm J, Bækved-Hansen M, Gudmundsson OO, Magnusson SH, Baldursson G, Davidsdottir K, Haraldsdottir GS, Agerbo E, Hoffman GE, Dalsgaard S, Martin J, Ribasés M, Boomsma DI, Soler Artigas M, Roth Mota N, Howrigan D, Medland SE, Zayats T, Rajagopal VM; ADHD Working Group of the Psychiatric Genomics Consortium; iPSYCH-Broad Consortium; Nordentoft M, Mors O, Hougaard DM, Mortensen PB, Daly MJ, Faraone SV, Stefansson H, Roussos P, Franke B, Werge T, Neale BM, Stefansson K, Børglum AD. Demontis D, et al. Nat Genet. 2023 Feb;55(2):198-208. doi: 10.1038/s41588-022-01285-8. Epub 2023 Jan 26. Nat Genet. 2023. PMID: 36702997 Free PMC article.
Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.
Demontis D, Walters GB, Athanasiadis G, Walters R, Therrien K, Nielsen TT, Farajzadeh L, Voloudakis G, Bendl J, Zeng B, Zhang W, Grove J, Als TD, Duan J, Satterstrom FK, Bybjerg-Grauholm J, Bækved-Hansen M, Gudmundsson OO, Magnusson SH, Baldursson G, Davidsdottir K, Haraldsdottir GS, Agerbo E, Hoffman GE, Dalsgaard S, Martin J, Ribasés M, Boomsma DI, Soler Artigas M, Roth Mota N, Howrigan D, Medland SE, Zayats T, Rajagopal VM; ADHD Working Group of the Psychiatric Genomics Consortium; iPSYCH-Broad Consortium; Nordentoft M, Mors O, Hougaard DM, Mortensen PB, Daly MJ, Faraone SV, Stefansson H, Roussos P, Franke B, Werge T, Neale BM, Stefansson K, Børglum AD. Demontis D, et al. Nat Genet. 2023 Apr;55(4):730. doi: 10.1038/s41588-023-01350-w. Nat Genet. 2023. PMID: 36859734 No abstract available.
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.
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.
Satterstrom FK, Walters RK, Singh T, Wigdor EM, Lescai F, Demontis D, Kosmicki JA, Grove J, Stevens C, Bybjerg-Grauholm J, Bækvad-Hansen M, Palmer DS, Maller JB; iPSYCH-Broad Consortium; Nordentoft M, Mors O, Robinson EB, Hougaard DM, Werge TM, Bo Mortensen P, Neale BM, Børglum AD, Daly MJ. Satterstrom FK, et al. Nat Neurosci. 2019 Dec;22(12):1961-1965. doi: 10.1038/s41593-019-0527-8. Epub 2019 Nov 25. Nat Neurosci. 2019. PMID: 31768057 Free PMC article.
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
Ganna A, Satterstrom FK, Zekavat SM, Das I, Kurki MI, Churchhouse C, Alfoldi J, Martin AR, Havulinna AS, Byrnes A, Thompson WK, Nielsen PR, Karczewski KJ, Saarentaus E, Rivas MA, Gupta N, Pietiläinen O, Emdin CA, Lescai F, Bybjerg-Grauholm J, Flannick J; GoT2D/T2D-GENES Consortium; Mercader JM, Udler M; SIGMA Consortium Helmsley IBD Exome Sequencing Project; FinMetSeq Consortium; iPSYCH-Broad Consortium; Laakso M, Salomaa V, Hultman C, Ripatti S, Hämäläinen E, Moilanen JS, Körkkö J, Kuismin O, Nordentoft M, Hougaard DM, Mors O, Werge T, Mortensen PB, MacArthur D, Daly MJ, Sullivan PF, Locke AE, Palotie A, Børglum AD, Kathiresan S, Neale BM. Ganna A, et al. Am J Hum Genet. 2018 Jun 7;102(6):1204-1211. doi: 10.1016/j.ajhg.2018.05.002. Epub 2018 May 31. Am J Hum Genet. 2018. PMID: 29861106 Free PMC article.