Associated Papers
Conformational Remodeling Underlies Activity Loss in Disease-Linked Asparagine Synthetase Variant.
Pearce LA et al.
Biorxiv : the Preprint Server for Biology, 2026
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.
Jahanpanah M et al.
Molecular Genetics & Genomic Medicine, 2024
Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification.
Staklinski SJ et al.
Biorxiv : the Preprint Server for Biology, 2023
A method for measurement of human asparagine synthetase (ASNS) activity and application to ASNS protein variants associated with ASNS deficiency.
Chang MC et al.
Biology Methods & Protocols, 2023
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency.
Abdel-Salam GMH et al.
Neuropediatrics, 2021
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.
Zhang L et al.
Human Genomics, 2020
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Alharby E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Akesson LS et al.
Human Mutation, 2020
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.
Wang C et al.
Molecular Genetics & Genomic Medicine, 2020
Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases.
Radha Rama Devi A et al.
Gene, 2019
Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature.
Sprute R et al.
Human Genome Variation, 2019
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.
Sacharow SJ et al.
Molecular Genetics and Metabolism, 2018
Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly.
Schleinitz D et al.
Frontiers in Genetics, 2018
Asparagine synthetase: Function, structure, and role in disease.
Lomelino CL et al.
The Journal of Biological Chemistry, 2017