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Comprehensive identification of somatic nucleotide variants in human brain tissue.
Wang Y, Bae T, Thorpe J, Sherman MA, Jones AG, Cho S, Daily K, Dou Y, Ganz J, Galor A, Lobon I, Pattni R, Rosenbluh C, Tomasi S, Tomasini L, Yang X, Zhou B, Akbarian S, Ball LL, Bizzotto S, Emery SB, Doan R, Fasching L, Jang Y, Juan D, Lizano E, Luquette LJ, Moldovan JB, Narurkar R, Oetjens MT, Rodin RE, Sekar S, Shin JH, Soriano E, Straub RE, Zhou W, Chess A, Gleeson JG, Marquès-Bonet T, Park PJ, Peters MA, Pevsner J, Walsh CA, Weinberger DR; Brain Somatic Mosaicism Network; Vaccarino FM, Moran JV, Urban AE, Kidd JM, Mills RE, Abyzov A. Wang Y, et al. Among authors: yang x. Genome Biol. 2021 Mar 29;22(1):92. doi: 10.1186/s13059-021-02285-3. Genome Biol. 2021. PMID: 33781308 Free PMC article.
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
Pelorosso C, Watrin F, Conti V, Buhler E, Gelot A, Yang X, Mei D, McEvoy-Venneri J, Manent JB, Cetica V, Ball LL, Buccoliero AM, Vinck A, Barba C, Gleeson JG, Guerrini R, Represa A. Pelorosso C, et al. Among authors: yang x. Hum Mol Genet. 2019 Nov 15;28(22):3755-3765. doi: 10.1093/hmg/ddz194. Hum Mol Genet. 2019. PMID: 31411685 Free PMC article.
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D, Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy HI, Temtamy S, Zaki M, Gleeson JG. Ghosh SG, et al. Among authors: yang x. J Med Genet. 2020 Apr;57(4):274-282. doi: 10.1136/jmedgenet-2019-106409. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586943 Free PMC article.
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, Nguyen A, McEvoy-Venneri J, Knox R, Sticca E, Botello MCC, Uribe Fenner J, Pérez MC, Arranz M, Moffitt AB, Wang Z, Hervás A, Devinsky O, Gymrek M, Sebat J, Gleeson JG. Breuss MW, et al. Among authors: yang x. Nat Med. 2020 Jan;26(1):143-150. doi: 10.1038/s41591-019-0711-0. Epub 2019 Dec 23. Nat Med. 2020. PMID: 31873310 Free PMC article.
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.
Garcia CAB, Carvalho SCS, Yang X, Ball LL, George RD, James KN, Stanley V, Breuss MW, Thomé U, Santos MV, Saggioro FP, Neder Serafini L, Silva WA Jr, Gleeson JG, Machado HR. Garcia CAB, et al. Among authors: yang x. Epilepsia Open. 2020 Jan 26;5(1):97-106. doi: 10.1002/epi4.12377. eCollection 2020 Mar. Epilepsia Open. 2020. PMID: 32140648 Free PMC article.
Sperm mosaicism: implications for genomic diversity and disease.
Breuss MW, Yang X, Gleeson JG. Breuss MW, et al. Among authors: yang x. Trends Genet. 2021 Oct;37(10):890-902. doi: 10.1016/j.tig.2021.05.007. Epub 2021 Jun 19. Trends Genet. 2021. PMID: 34158173 Free PMC article. Review.
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