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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. Among authors: mahjani b. 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.
Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort.
Bai D, Yip BHK, Windham GC, Sourander A, Francis R, Yoffe R, Glasson E, Mahjani B, Suominen A, Leonard H, Gissler M, Buxbaum JD, Wong K, Schendel D, Kodesh A, Breshnahan M, Levine SZ, Parner ET, Hansen SN, Hultman C, Reichenberg A, Sandin S. Bai D, et al. Among authors: mahjani b. JAMA Psychiatry. 2019 Oct 1;76(10):1035-1043. doi: 10.1001/jamapsychiatry.2019.1411. JAMA Psychiatry. 2019. PMID: 31314057 Free PMC article.
Cohort profile: Epidemiology and Genetics of Obsessive-compulsive disorder and chronic tic disorders in Sweden (EGOS).
Mahjani B, Dellenvall K, Grahnat AS, Karlsson G, Tuuliainen A, Reichert J, Mahjani CG, Klei L, De Rubeis S, Reichenberg A, Devlin B, Hultman CM, Buxbaum JD, Sandin S, Grice DE. Mahjani B, et al. Among authors: mahjani cg. Soc Psychiatry Psychiatr Epidemiol. 2020 Oct;55(10):1383-1393. doi: 10.1007/s00127-019-01822-7. Epub 2020 Jan 6. Soc Psychiatry Psychiatr Epidemiol. 2020. PMID: 31907560
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.
Maternal Effects as Causes of Risk for Obsessive-Compulsive Disorder.
Mahjani B, Klei L, Hultman CM, Larsson H, Devlin B, Buxbaum JD, Sandin S, Grice DE. Mahjani B, et al. Biol Psychiatry. 2020 Jun 15;87(12):1045-1051. doi: 10.1016/j.biopsych.2020.01.006. Epub 2020 Jan 22. Biol Psychiatry. 2020. PMID: 32199606 Free PMC article.
How rare and common risk variation jointly affect liability for autism spectrum disorder.
Klei L, McClain LL, Mahjani B, Panayidou K, De Rubeis S, Grahnat AS, Karlsson G, Lu Y, Melhem N, Xu X, Reichenberg A, Sandin S, Hultman CM, Buxbaum JD, Roeder K, Devlin B. Klei L, et al. Among authors: mahjani b. Mol Autism. 2021 Oct 6;12(1):66. doi: 10.1186/s13229-021-00466-2. Mol Autism. 2021. PMID: 34615521 Free PMC article.
27 results