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American Journal of Human Genetics|September 4, 2012
Contribution of global rare copy-number variants to the risk of sporadic congenital heart diseaseRachel Soemedi, Ian J Wilson, Jamie Bentham, et al.Circulation|March 25, 2025
XBP1s-EDEM2 Prevents the Onset and Development of HFpEF by Ameliorating Cardiac LipotoxicityOveena Fonseka, Rida Raja, Claire Ross, et al.Circulation Research|December 25, 2018
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotDonna J Page, Matthieu J Miossec, Simon G Williams, et al.Human Molecular Genetics|January 9, 2013
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of FallotHeather J Cordell, Ana Töpf, Chrysovalanto Mamasoula, et al.Nature Genetics|May 28, 2013
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16Heather J Cordell, Jamie Bentham, Ana Topf, et al.Circulation. Cardiovascular Genetics|July 24, 2013
Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controlsChrysovalanto Mamasoula, R Reid Prentice, Tomasz Pierscionek, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotDoris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.Nature Communications|May 26, 2017
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valveBo Yang, Wei Zhou, Jiao Jiao, et al.Plos Genetics|September 21, 2021
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.Human Molecular Genetics|March 12, 2016
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20Neil A Hanchard, Shanker Swaminathan, Kristine Bucasas, et al.Pageof 8