Associated Papers
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40127276 (PubMed )
Supplement: pnas.2420343122.sd04.xlsx › DS4._Panel_Mutations
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
Hsieh A et al.
Genome Medicine, 2020
32349777 (PubMed )
Supplement: 13073_2020_738_MOESM1_ESM.xlsx › Table_S4_All_MH_Mosaics
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility.
Robson A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Kosmicki JA et al.
Nature Genetics, 2017
28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila.
Zhu JY et al.
Elife, 2017
28084990 (PubMed )
Supplement: elife-22617-supp1.xlsx › Sheet1
De novo mutations in histone-modifying genes in congenital heart disease.
Zaidi S et al.
Nature, 2013
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