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Nature Genetics|March 1, 2005
Mutation in myosin heavy chain 6 causes atrial septal defectYung-Hao Ching, Tushar K Ghosh, Steve J Cross, et al.Plos One|March 25, 2009
Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformationHelen R Griffin, Darroch H Hall, Ana Topf, et al.NPJ Genomic Medicine|June 2, 2026
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome studyEnrique Audain, Anna Wilsdon, Gregor Dombrowsky, et al.Science Translational Medicine|May 1, 2020
CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse modelAmi Ketley, Marzena Wojciechowska, Sonja Ghidelli-Disse, et al.Human Molecular Genetics|December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsRachel Soemedi, Ana Topf, Ian J Wilson, et al.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.Science (New York, N.Y.)|July 16, 2005
Health innovation networks to help developing countries address neglected diseasesCarlos M Morel, Tara Acharya, Denis Broun, et al.Genome Medicine|January 8, 2026
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defectsGregor Dombrowsky, Liselot van der Laan, Ananília Silva, 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.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.Pageof 9