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De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak C, Zhang P, Tristani-Firouzi M, Gelb BD, Itan Y. Sevim Bayrak C, et al. Genome Med. 2020 Jan 15;12(1):9. doi: 10.1186/s13073-019-0709-8. Genome Med. 2020. PMID: 31941532 Free PMC article.
BACKGROUND: Congenital heart disease (CHD) affects ~ 1% of live births and is the most common birth defect. ...In this study, we performed novel gene and pathway enrichment analyses of high-impact de novo variants in the recently p …
BACKGROUND: Congenital heart disease (CHD) affects ~ 1% of live births and is the most common birth defect. ...In this …
Functional analysis of HECA variants identified in congenital heart disease in the Chinese population.
Li T, Wu Y, Chen WC, Xue X, Suo MJ, Li P, Sheng W, Huang GY. Li T, et al. J Clin Lab Anal. 2022 Sep;36(9):e24649. doi: 10.1002/jcla.24649. Epub 2022 Aug 10. J Clin Lab Anal. 2022. PMID: 35949005 Free PMC article.
BACKGROUND: Congenital heart disease (CHD) is a class of cardiovascular defects that includes septal defects, outflow tract abnormalities, and valve defects. ...RESULTS: We found a novel de novo mutation, c.409_410insA (p. W …
BACKGROUND: Congenital heart disease (CHD) is a class of cardiovascular defects that includes septal defects …
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Coban-Akdemir ZH, Charng WL, Azamian M, Paine IS, Punetha J, Grochowski CM, Gambin T, Valdes SO, Cannon B, Zapata G, Hernandez PP, Jhangiani S, Doddapaneni H, Hu J, Boricha F, Muzny DM, Boerwinkle E, Yang Y, Gibbs RA, Posey JE, Wehrens XHT, Belmont JW, Kim JJ, Miyake CY, Lupski JR, Lalani SR. Coban-Akdemir ZH, et al. Am J Med Genet A. 2020 Jun;182(6):1387-1399. doi: 10.1002/ajmg.a.61571. Epub 2020 Mar 31. Am J Med Genet A. 2020. PMID: 32233023 Free PMC article.
Several studies have indicated that despite ablation of an accessory pathway, the risk of AF remains high in patients compared to general population. METHODS: We applied exome sequencing in 305 subjects, including 65 trios, 80 singletons, and 6 multipl …
Several studies have indicated that despite ablation of an accessory pathway, the risk of AF remains high in patients c …