National Heart, Lung, and Blood Institute (NHLBI) Bench to Bassinet Program: The Pediatric Cardiac Genetics Consortium (PCGC) Study

De novo mutations in histone modifying genes in congenital heart disease

Samir Zaidi, Murim Choi, H. Wakimoto, et al.. (2013). Nature. Cited 875 times. https://doi.org/10.1038/nature12141

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

S. Jin, Jason G. Homsy, Samir Zaidi, et al.. (2017). Nature genetics. Cited 742 times. https://doi.org/10.1038/ng.3970

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Jason G. Homsy, Samir Zaidi, Yufeng Shen, et al.. (2015). Science. Cited 725 times. https://doi.org/10.1126/science.aac9396

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

J. Glessner, A. Bick, K. Ito, et al.. (2014). Circulation Research. Cited 229 times. https://doi.org/10.1161/CIRCRESAHA.115.304458

The Congenital Heart Disease Genetic Network Study: Rationale, Design, and Early Results

B. Gelb, M. Brueckner, W. Chung, et al.. (2013). Circulation Research. Cited 158 times. https://doi.org/10.1161/CIRCRESAHA.111.300297

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

J. Priest, K. Osoegawa, Nebil Mohammed, et al.. (2016). PLoS Genetics. Cited 115 times. https://doi.org/10.1371/journal.pgen.1005963

Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease

S. Morton, A. Norris-Brilliant, Sean Cunningham, et al.. (2023). JAMA Network Open. Cited 12 times. https://doi.org/10.1001/jamanetworkopen.2022.53191

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

M. Sierant, Sheng Chih Jin, K. Bilguvar, et al.. (2025). Proceedings of the National Academy of Sciences of the United States of America. Cited 10 times. https://doi.org/10.1073/pnas.2420343122

Recessive genetic contribution to congenital heart disease in 5,424 probands

W. Dong, Sheng Chih, M. Sierant, et al.. (2025). Proceedings of the National Academy of Sciences of the United States of America. Cited 5 times. https://doi.org/10.1073/pnas.2419992122