Associated Papers
Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study.
Gao Z et al.
American Journal of Obstetrics and Gynecology, 2026
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
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
Genetic modifiers of long-term survival in sickle cell anemia.
Wonkam A et al.
Clinical and Translational Medicine, 2020
32898326 (PubMed )
Supplement: CTM2-10-e152-s001.pdf
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