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
Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.
Chen SH et al.
Cancer Medicine, 2024
38895905 (PubMed )
Supplement: CAM4-13-e7384-s003.xlsx › Sheet1
A Case of Microsatellite Instability-High Colon Cancer in a Young Woman With Familial Adenomatous Polyposis.
Blum SM et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2021
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak C et al.
Genome Medicine, 2020
31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S2
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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