Associated Papers
Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development.
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Antioxidants & Redox Signaling, 2023
Mitochondrial Impairment: A Common Motif in Neuropsychiatric Presentation? The Link to the Tryptophan-Kynurenine Metabolic System.
Tanaka M et al.
Cells, 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
VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants.
Ip E et al.
Genomics, Proteomics & Bioinformatics, 2019
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Alankarage D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H et al.
The New England Journal of Medicine, 2017
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