These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
187 related articles for article (PubMed ID: 36816019)
1. Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients. Hu H; Geng Z; Zhang S; Xu Y; Wang Q; Chen S; Zhang B; Sun K; Lu Y Front Genet; 2023; 14():1075349. PubMed ID: 36816019 [TBL] [Abstract][Full Text] [Related]
2. Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects. Priest JR; Girirajan S; Vu TH; Olson A; Eichler EE; Portman MA Am J Med Genet A; 2012 Jun; 158A(6):1279-84. PubMed ID: 22529060 [TBL] [Abstract][Full Text] [Related]
3. Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects. Rambo-Martin BL; Mulle JG; Cutler DJ; Bean LJH; Rosser TC; Dooley KJ; Cua C; Capone G; Maslen CL; Reeves RH; Sherman SL; Zwick ME G3 (Bethesda); 2018 Jan; 8(1):105-111. PubMed ID: 29141989 [TBL] [Abstract][Full Text] [Related]
4. Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting. Yi T; Hao X; Sun H; Zhang Y; Han J; Gu X; Sun L; Liu X; Zhao Y; Guo Y; Zhou X; He Y ESC Heart Fail; 2023 Apr; 10(2):917-930. PubMed ID: 36478645 [TBL] [Abstract][Full Text] [Related]
5. Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH. Tisserant E; Vitobello A; Callegarin D; Verdez S; Bruel AL; Aho Glele LS; Sorlin A; Viora-Dupont E; Konyukh M; Marle N; Nambot S; Moutton S; Racine C; Garde A; Delanne J; Tran-Mau-Them F; Philippe C; Kuentz P; Poulleau M; Payet M; Poe C; Thauvin-Robinet C; Faivre L; Mosca-Boidron AL; Thevenon J; Duffourd Y; Callier P Ann Hum Genet; 2022 Jul; 86(4):171-180. PubMed ID: 35141892 [TBL] [Abstract][Full Text] [Related]
7. The implication of chromosomal abnormalities in the surgical outcomes of Chinese pediatric patients with congenital heart disease. Yu X; Tao Y; Liu X; Yu F; Jiang C; Xiao Y; Zhang H; He Y; Ye L; Wang Y; Zhou C; Wang J; Jiang Z; Hong H Front Cardiovasc Med; 2023; 10():1164577. PubMed ID: 37293289 [TBL] [Abstract][Full Text] [Related]
8. Rare Copy Number Variants Identify Novel Genes in Sporadic Total Anomalous Pulmonary Vein Connection. Shi X; Cheng L; Jiao X; Chen B; Li Z; Liang Y; Liu W; Wang J; Liu G; Xu Y; Sun J; Fu Q; Lu Y; Chen S Front Genet; 2018; 9():559. PubMed ID: 30532766 [TBL] [Abstract][Full Text] [Related]
9. Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect. Xie H; Hong N; Zhang E; Li F; Sun K; Yu Y Front Genet; 2019; 10():15. PubMed ID: 30745907 [TBL] [Abstract][Full Text] [Related]
10. Next-generation sequencing identified genetic variations in families with fetal non-syndromic atrioventricular septal defects. Xu J; Wu Q; Wang L; Han J; Pei Y; Zhi W; Liu Y; Yin C; Jiang Y Int J Clin Exp Pathol; 2018; 11(7):3732-3743. PubMed ID: 31949757 [TBL] [Abstract][Full Text] [Related]
12. Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival. Kim DS; Kim JH; Burt AA; Crosslin DR; Burnham N; Kim CE; McDonald-McGinn DM; Zackai EH; Nicolson SC; Spray TL; Stanaway IB; Nickerson DA; Heagerty PJ; Hakonarson H; Gaynor JW; Jarvik GP J Thorac Cardiovasc Surg; 2016 Apr; 151(4):1147-51.e4. PubMed ID: 26704054 [TBL] [Abstract][Full Text] [Related]
13. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Glessner JT; Bick AG; Ito K; Homsy J; Rodriguez-Murillo L; Fromer M; Mazaika E; Vardarajan B; Italia M; Leipzig J; DePalma SR; Golhar R; Sanders SJ; Yamrom B; Ronemus M; Iossifov I; Willsey AJ; State MW; Kaltman JR; White PS; Shen Y; Warburton D; Brueckner M; Seidman C; Goldmuntz E; Gelb BD; Lifton R; Seidman J; Hakonarson H; Chung WK Circ Res; 2014 Oct; 115(10):884-896. PubMed ID: 25205790 [TBL] [Abstract][Full Text] [Related]
14. Human Genetics of Atrioventricular Septal Defect. Maslen CL Adv Exp Med Biol; 2024; 1441():559-571. PubMed ID: 38884732 [TBL] [Abstract][Full Text] [Related]
15. Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle. Zhang X; Wang B; You G; Xiang Y; Fu Q; Yu Y; Zhang X BMC Med Genomics; 2021 Oct; 14(1):243. PubMed ID: 34627233 [TBL] [Abstract][Full Text] [Related]
16. Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect. Ferese R; Bonetti M; Consoli F; Guida V; Sarkozy A; Lepri FR; Versacci P; Gambardella S; Calcagni G; Margiotti K; Piceci Sparascio F; Hozhabri H; Mazza T; Digilio MC; Dallapiccola B; Tartaglia M; Marino B; Hertog JD; De Luca A Hum Mutat; 2018 Oct; 39(10):1428-1441. PubMed ID: 30007050 [TBL] [Abstract][Full Text] [Related]
17. Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4. Li B; Li Z; Yang J; Hong N; Jin L; Xu Y; Fu Q; Sun K; Yu Y; Lu Y; Chen S Mol Genet Genomics; 2022 May; 297(3):671-687. PubMed ID: 35260939 [TBL] [Abstract][Full Text] [Related]
18. Clinical and genetic findings in patients with congenital cataract and heart diseases. Li X; Si N; Song Z; Ren Y; Xiao W Orphanet J Rare Dis; 2021 May; 16(1):242. PubMed ID: 34059112 [TBL] [Abstract][Full Text] [Related]
19. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Fromer M; Moran JL; Chambert K; Banks E; Bergen SE; Ruderfer DM; Handsaker RE; McCarroll SA; O'Donovan MC; Owen MJ; Kirov G; Sullivan PF; Hultman CM; Sklar P; Purcell SM Am J Hum Genet; 2012 Oct; 91(4):597-607. PubMed ID: 23040492 [TBL] [Abstract][Full Text] [Related]
20. Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome. Trevino CE; Holleman AM; Corbitt H; Maslen CL; Rosser TC; Cutler DJ; Johnston HR; Rambo-Martin BL; Oberoi J; Dooley KJ; Capone GT; Reeves RH; Cordell HJ; Keavney BD; Agopian AJ; Goldmuntz E; Gruber PJ; O'Brien JE; Bittel DC; Wadhwa L; Cua CL; Moskowitz IP; Mulle JG; Epstein MP; Sherman SL; Zwick ME Sci Rep; 2020 Oct; 10(1):18051. PubMed ID: 33093519 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]