Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sapp.pdf
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO et al.
The Journal of Clinical Investigation, 2024
Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Aubert-Mucca M et al.
Clinical Genetics, 2023
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.
Kortbawi H et al.
American Journal of Medical Genetics. Part A, 2022
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