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Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.
Gordon DM, Cunningham D, Zender G, Lawrence PJ, Penaloza JS, Lin H, Fitzgerald-Butt SM, Myers K, Duong T, Corsmeier DJ, Gaither JB, Kuck HC, Wijeratne S, Moreland B, Kelly BJ; Baylor-Johns Hopkins Center for Mendelian Genomics; Garg V, White P, McBride KL. Gordon DM, et al. Among authors: lin h. PLoS Genet. 2022 Jun 23;18(6):e1010236. doi: 10.1371/journal.pgen.1010236. eCollection 2022 Jun. PLoS Genet. 2022. PMID: 35737725 Free PMC article.
Impaired Human Cardiac Cell Development due to NOTCH1 Deficiency.
Ye S, Wang C, Xu Z, Lin H, Wan X, Yu Y, Adhicary S, Zhang JZ, Zhou Y, Liu C, Alonzo M, Bi J, Ramirez-Navarro A, Deschenes I, Ma Q, Garg V, Wu JC, Zhao MT. Ye S, et al. Among authors: lin h. Circ Res. 2023 Jan 20;132(2):187-204. doi: 10.1161/CIRCRESAHA.122.321398. Epub 2022 Dec 30. Circ Res. 2023. PMID: 36583388 Free PMC article.
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