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European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.Proceedings of the National Academy of Sciences of the United States of America|March 24, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genesMichael C Sierant, Sheng Chih Jin, Kaya Bilguvar, et al.Nature Genetics|October 10, 2017
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probandsSheng Chih Jin, Jason Homsy, Samir Zaidi, et al.Circulation. Cardiovascular Genetics|October 14, 2017
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3Tingwei Guo, Gabriela M Repetto, Donna M McDonald McGinn, et al.Nature|May 14, 2013
De novo mutations in histone-modifying genes in congenital heart diseaseSamir Zaidi, Murim Choi, Hiroko Wakimoto, et al.American Journal of Human Genetics|December 25, 2019
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart DefectsYingjie Zhao, Alexander Diacou, H Richard Johnston, et al.NPJ Genomic Medicine|July 18, 2023
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DSYingjie Zhao, Yujue Wang, Lijie Shi, et al.American Journal of Obstetrics and Gynecology|September 17, 2023
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of ageLindsay R Freud, Stephanie Galloway, T Blaine Crowley, et al.Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndromeJhih-Rong Lin, Daniella Miller, Dana Luong, et al.Circulation Research|December 10, 2021
Common Genetic Variants Contribute to Risk of Transposition of the Great ArteriesDoris Škorić-Milosavljević, Rafik Tadros, Fernanda M Bosada, et al.Pageof 18