Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Materials.docx
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency.
Jiao X et al.
Human Molecular Genetics, 2023
Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes.
Chi W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.
Barile A et al.
International Journal of Molecular Sciences, 2021
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Alghamdi M et al.
Clinical Genetics, 2021
32888189 (PubMed )
Supplement: CGE-99-99-s003.xlsx › complied_table
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Wilson MP et al.
Analytical Chemistry, 2017
28782931 (PubMed )
Supplement: ac7b01358_si_001.pdf
Inactive mutants of human pyridoxine 5'-phosphate oxidase: a possible role for a noncatalytic pyridoxal 5'-phosphate tight binding site.
Ghatge MS et al.
Febs Open Bio, 2016
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Mills PB et al.
Brain : a Journal of Neurology, 2014
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
Khayat M et al.
Molecular Genetics and Metabolism, 2008
Select a paper to view details