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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. Among authors: chen es. Genome Med. 2016 Nov 1;8(1):105. doi: 10.1186/s13073-016-0359-z. Genome Med. 2016. PMID: 27799067 Free PMC article.
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Beck CR, Carvalho CMB, Akdemir ZC, Sedlazeck FJ, Song X, Meng Q, Hu J, Doddapaneni H, Chong Z, Chen ES, Thornton PC, Liu P, Yuan B, Withers M, Jhangiani SN, Kalra D, Walker K, English AC, Han Y, Chen K, Muzny DM, Ira G, Shaw CA, Gibbs RA, Hastings PJ, Lupski JR. Beck CR, et al. Among authors: chen k, chen es. Cell. 2019 Mar 7;176(6):1310-1324.e10. doi: 10.1016/j.cell.2019.01.045. Epub 2019 Feb 28. Cell. 2019. PMID: 30827684 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.
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. 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.
NetComm: a network analysis tool based on communicability.
Campbell IM, James RA, Chen ES, Shaw CA. Campbell IM, et al. Among authors: chen es. Bioinformatics. 2014 Dec 1;30(23):3387-9. doi: 10.1093/bioinformatics/btu536. Epub 2014 Aug 13. Bioinformatics. 2014. PMID: 25123899 Free PMC article.
Bayesian modelling of high-throughput sequencing assays with malacoda.
Ghazi AR, Kong X, Chen ES, Edelstein LC, Shaw CA. Ghazi AR, et al. Among authors: chen es. PLoS Comput Biol. 2020 Jul 21;16(7):e1007504. doi: 10.1371/journal.pcbi.1007504. eCollection 2020 Jul. PLoS Comput Biol. 2020. PMID: 32692749 Free PMC article.
361 results