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Page 1
Recent advances in understanding neuro.
Ziegler A, Chung WK. Ziegler A, et al. Curr Opin Genet Dev. 2022 Aug;75:101938. doi: 10.1016/j.gde.2022.101938. Epub 2022 Jun 27. Curr Opin Genet Dev. 2022. PMID: 35772305 Review.
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease.
Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE. Morton SU, et al. JAMA Cardiol. 2021 Apr 1;6(4):457-462. doi: 10.1001/jamacardio.2020.4947. JAMA Cardiol. 2021. PMID: 33084842 Free PMC article.
The genetics of isolated congenital heart disease.
Nees SN, Chung WK. Nees SN, et al. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):97-106. doi: 10.1002/ajmg.c.31763. Epub 2019 Dec 26. Am J Med Genet C Semin Med Genet. 2020. PMID: 31876989 Free PMC article. Review.
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.
Ward T, Tai W, Morton S, Impens F, Van Damme P, Van Haver D, Timmerman E, Venturini G, Zhang K, Jang MY, Willcox JAL, Haghighi A, Gelb BD, Chung WK, Goldmuntz E, Porter GA Jr, Lifton RP, Brueckner M, Yost HJ, Bruneau BG, Gorham J, Kim Y, Pereira A, Homsy J, Benson CC, DePalma SR, Varland S, Chen CS, Arnesen T, Gevaert K, Seidman C, Seidman JG. Ward T, et al. Circ Res. 2021 Apr 16;128(8):1156-1169. doi: 10.1161/CIRCRESAHA.120.316966. Epub 2021 Feb 9. Circ Res. 2021. PMID: 33557580 Free PMC article. Clinical Trial.
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.
Sharma A, Wasson LK, Willcox JA, Morton SU, Gorham JM, DeLaughter DM, Neyazi M, Schmid M, Agarwal R, Jang MY, Toepfer CN, Ward T, Kim Y, Pereira AC, DePalma SR, Tai A, Kim S, Conner D, Bernstein D, Gelb BD, Chung WK, Goldmuntz E, Porter G, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE; Pediatric Cardiac Genomics Consortium. Sharma A, et al. Elife. 2020 Oct 15;9:e53278. doi: 10.7554/eLife.53278. Elife. 2020. PMID: 33054971 Free PMC article.
ORE identifies extreme expression effects enriched for rare variants.
Richter F, Hoffman GE, Manheimer KB, Patel N, Sharp AJ, McKean D, Morton SU, DePalma S, Gorham J, Kitaygorodksy A, Porter GA, Giardini A, Shen Y, Chung WK, Seidman JG, Seidman CE, Schadt EE, Gelb BD. Richter F, et al. Bioinformatics. 2019 Oct 15;35(20):3906-3912. doi: 10.1093/bioinformatics/btz202. Bioinformatics. 2019. PMID: 30903145 Free PMC article.
Genome-wide association studies of Down syndrome associated congenital heart defects.
Feldman ER, Li Y, Cutler DJ, Rosser TC, Wechsler SB, Sanclemente L, Rachubinski AL, Elliott N, Vyas P, Roberts I, Rabin KR, Wagner M, Gelb BD, Espinosa JM, Lupo PJ, de Smith AJ, Sherman SL, Leslie EJ. Feldman ER, et al. medRxiv [Preprint]. 2024 Sep 6:2024.09.06.24313183. doi: 10.1101/2024.09.06.24313183. medRxiv. 2024. PMID: 39281767 Free PMC article. Preprint.
18 results