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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: yu mhc. 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.
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.
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Chung CCY, Leung GKC, Mak CCY, Fung JLF, Lee M, Pei SLC, Yu MHC, Hui VCC, Chan JCK, Chau JFT, Chan MCY, Tsang MHY, Wong WHS, Tung JYL, Lun KS, Ng YK, Fung CW, Wong MSC, Wong RMS, Lau YL, Chan GCF, Lee SL, Yeung KS, Chung BHY. Chung CCY, et al. Among authors: yu mhc. Lancet Reg Health West Pac. 2020 Jul 24;1:100001. doi: 10.1016/j.lanwpc.2020.100001. eCollection 2020 Aug. Lancet Reg Health West Pac. 2020. PMID: 34327338 Free PMC article.
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
Chiu ATG, Pei SLC, Mak CCY, Leung GKC, Yu MHC, Lee SL, Vreeburg M, Pfundt R, van der Burgt I, Kleefstra T, Frederic TM, Nambot S, Faivre L, Bruel AL, Rossi M, Isidor B, Küry S, Cogne B, Besnard T, Willems M, Reijnders MRF, Chung BHY. Chiu ATG, et al. Among authors: yu mhc. Clin Genet. 2018 Apr;93(4):880-890. doi: 10.1111/cge.13196. Epub 2018 Feb 13. Clin Genet. 2018. PMID: 29240241
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Yeung KS, Yu FNY, Fung CW, Wong S, Lee HHC, Fung STH, Fung GPG, Leung KY, Chung WH, Lee YT, Ng VKS, Yu MHC, Fung JLF, Tsang MHY, Chan KYK, Chan SHS, Kan ASY, Chung BHY. Yeung KS, et al. Among authors: yu fny, yu mhc. Mol Genet Genomic Med. 2020 Jul;8(7):e1229. doi: 10.1002/mgg3.1229. Epub 2020 Apr 30. Mol Genet Genomic Med. 2020. PMID: 32352246 Free PMC article.
23 results