Associated Papers
Familial congenital heart disease caused by a frameshift variant in glyoxylate reductase 1 homolog (GLYR1).
Liang C et al.
Qjm : Monthly Journal of the Association of Physicians, 2024
Transcription factor protein interactomes reveal genetic determinants in heart disease.
Gonzalez-Teran B et al.
Cell, 2022
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_S3_All_EM-mosaic_Mosaics
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
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