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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: lee sl, lee sk. 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.
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.
Babadi M, Fu JM, Lee SK, Smirnov AN, Gauthier LD, Walker M, Benjamin DI, Zhao X, Karczewski KJ, Wong I, Collins RL, Sanchis-Juan A, Brand H, Banks E, Talkowski ME. Babadi M, et al. Among authors: lee sk. Nat Genet. 2023 Sep;55(9):1589-1597. doi: 10.1038/s41588-023-01449-0. Epub 2023 Aug 21. Nat Genet. 2023. PMID: 37604963 Free PMC article.
Genomic data in the All of Us Research Program.
All of Us Research Program Genomics Investigators. All of Us Research Program Genomics Investigators. Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19. Nature. 2024. PMID: 38374255 Free PMC article.
The short version of the Sexual Distress Scale (SDS-3): Measurement invariance across countries, gender identities, and sexual orientations.
Lin CY, Tsai MC, Koós M, Nagy L, Kraus SW, Demetrovics Z, Potenza MN, Ballester-Arnal R, Batthyány D, Bergeron S, Billieux J, Briken P, Cárdenas-López G, Carvalho J, Castro-Calvo J, Chen L, Ciocca G, Corazza O, Csako RI, Fernandez DP, Fernandez EF, Fujiwara H, Fuss J, Gabrhelík R, Gewirtz-Meydan A, Gjoneska B, Gola M, Grubbs JB, Hashim HT, Islam MS, Ismail M, Jiménez-Martínez M, Jurin T, Kalina O, Klein V, Költő A, Lee SK, Lewczuk K, Lochner C, López-Alvarado S, Lukavská K, Mayta-Tristán P, Milea I, Miller DJ, Orosová O, Orosz G; Sungkyunkwan University's research team; Ponce FP, Quintana GR, Garzola GCQ, Ramos-Diaz J, Rigaud K, Rousseau A, Scanavino MT, Schulmeyer MK, Sharan P, Shibata M, Shoib S, Sigre-Leirós V, Sniewski L, Spasovski O, Steibliene V, Stein DJ, Strizek J, Štulhofer A, Ünsal BC, Vaillancourt-Morel MP, Van Hout MC, Bőthe B. Lin CY, et al. Among authors: lee sk. Int J Clin Health Psychol. 2024 Apr-Jun;24(2):100461. doi: 10.1016/j.ijchp.2024.100461. Epub 2024 Apr 30. Int J Clin Health Psychol. 2024. PMID: 38706570 Free PMC article.
7,054 results