Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

2 results

Citations

1 article found by citation matching

Search results

Filters applied: . Clear all
Page 1
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.
In this study, we performed novel gene and pathway enrichment analyses of high-impact de novo variants in the recently published whole-exome sequencing (WES) data generated from a cohort of CHD 2645 parent-offspring trios to identify
In this study, we performed novel gene and pathway enrichment analyses of high-impact de novo variants in …
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.
We used de novo analysis, candidate gene approach, and burden testing to explore the genetic contributions to WPW. ...Another individual with WPW and left ventricular hypertrophy carried a known pathogenic variant in MYH7. We found rare de no
We used de novo analysis, candidate gene approach, and burden testing to explore the genetic contributions to WPW. ...A …