Associated Papers
Drosophila Models Reveal NAT Complex Roles in Heart Development and Enable Functional Validation of Congenital Heart Disease Variants.
Zhu JY et al.
Cells, 2025
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
Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.
Harvey DC et al.
Frontiers in Cardiovascular Medicine, 2023
Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant.
Yubero D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
N-Acetyl Transferases: New Insights Into Human Congenital Cardiovascular Defects.
Cashman TJ et al.
Circulation Research, 2021
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
Edwards JJ et al.
Jacc. Basic to Translational Science, 2020
32368696 (PubMed )
Supplement: mmc3.xlsx › Cases
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
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Cheng H et al.
American Journal of Human Genetics, 2018
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
De novo mutations in histone-modifying genes in congenital heart disease.
Zaidi S et al.
Nature, 2013
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