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European Journal of Pediatrics|January 4, 2014
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our timesAlex Habel, Richard Herriot, Dinakantha Kumararatne, et al.Human Molecular Genetics|October 20, 2007
Alpha-cardiac actin mutations produce atrial septal defectsHans Matsson, Jacqueline Eason, Carol S Bookwalter, 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.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.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.Journal of the American College of Cardiology|December 6, 2023
Apixaban for Prevention of Thromboembolism in Pediatric Heart DiseaseR Mark Payne, Kristin M Burns, Andrew C Glatz, et al.Cardiology in the Young|March 1, 2022
Paediatric and adult congenital cardiology education and training in EuropeColin J McMahon, Ruth Heying, Werner Budts, et al.Nature Genetics|August 2, 2016
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingAlejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.Pageof 2