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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Gambin T, Liu Q, Karolak JA, Grochowski CM, Xie NG, Wu LR, Yan YH, Cao Y, Coban Akdemir ZH, Wilson TA, Jhangiani SN, Chen E, Eng CM, Muzny D, Posey JE, Yang Y, Zhang DY, Shaw C, Liu P, Lupski JR, Stankiewicz P. Gambin T, et al. Among authors: chen e. Genet Med. 2020 Nov;22(11):1768-1776. doi: 10.1038/s41436-020-0897-z. Epub 2020 Jul 13. Genet Med. 2020. PMID: 32655138 Free PMC article.
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y, Tokita MJ, Chen ES, Ghosh R, Chen T, Feng Y, Gorman E, Gibellini F, Ward PA, Braxton A, Wang X, Meng L, Xiao R, Bi W, Xia F, Eng CM, Yang Y, Gambin T, Shaw C, Liu P, Stankiewicz P. Cao Y, et al. Among authors: chen es, chen t. Genome Med. 2019 Jul 26;11(1):48. doi: 10.1186/s13073-019-0658-2. Genome Med. 2019. PMID: 31349857 Free PMC article.
A muscle-specific DNase I-like gene in human Xq28.
Parrish JE, Ciccodicola A, Wehhert M, Cox GF, Chen E, Nelson DL. Parrish JE, et al. Among authors: chen e. Hum Mol Genet. 1995 Sep;4(9):1557-64. doi: 10.1093/hmg/4.9.1557. Hum Mol Genet. 1995. PMID: 8541839
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Loviglio MN, Beck CR, White JJ, Leleu M, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, Shaw CA, Jhangiani SN, Muzny DM, Gibbs RA, Rougemont J, Xenarios I, Lupski JR, Reymond A. Loviglio MN, et al. Genome Med. 2016 Nov 1;8(1):105. doi: 10.1186/s13073-016-0359-z. Genome Med. 2016. PMID: 27799067 Free PMC article.
6,089 results