Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
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
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
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
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