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
Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development.
Dunwoodie SL et al.
Antioxidants & Redox Signaling, 2023
Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Aubert-Mucca M et al.
Clinical Genetics, 2023
Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics.
Erbs E et al.
European Journal of Medical 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
Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.
Lin J et al.
Genes, 2021
NAD+ homeostasis in human health and disease.
Zapata-Pérez R et al.
Embo Molecular Medicine, 2021
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.
Schüle I et al.
Genes, 2021
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Szot JO et al.
American Journal of Human Genetics, 2020
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