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Genomic analyses implicate noncoding de novo variants in congenital heart disease.
Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA Jr, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Richter F, et al. Nat Genet. 2020 Aug;52(8):769-777. doi: 10.1038/s41588-020-0652-z. Epub 2020 Jun 29. Nat Genet. 2020. PMID: 32601476 Free PMC article. Clinical Trial.
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
Hsieh A, Morton SU, Willcox JAL, Gorham JM, Tai AC, Qi H, DePalma S, McKean D, Griffin E, Manheimer KB, Bernstein D, Kim RW, Newburger JW, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Brueckner M, Lifton RP, Goldmuntz E, Gelb BD, Chung WK, Seidman CE, Seidman JG, Shen Y. Hsieh A, et al. Genome Med. 2020 Apr 29;12(1):42. doi: 10.1186/s13073-020-00738-1. Genome Med. 2020. PMID: 32349777 Free PMC article.
Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.
Zhong G, Ahimaz P, Edwards NA, Hagen JJ, Faure C, Lu Q, Kingma P, Middlesworth W, Khlevner J, El Fiky M, Schindel D, Fialkowski E, Kashyap A, Forlenza S, Kenny AP, Zorn AM, Shen Y, Chung WK. Zhong G, et al. HGG Adv. 2022 Apr 16;3(3):100107. doi: 10.1016/j.xhgg.2022.100107. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35519826 Free PMC article.