Associated Papers
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
Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency.
Staklinski SJ et al.
The Journal of Biological Chemistry, 2022
Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency.
Abdel-Salam GMH et al.
Neuropediatrics, 2021
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
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
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Palmer EE et al.
Molecular Genetics & Genomic Medicine, 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
Asparagine Synthetase deficiency-report of a novel mutation and review of literature.
Gupta N et al.
Metabolic Brain Disease, 2017
The first report of Japanese patients with asparagine synthetase deficiency.
Yamamoto T et al.
Brain & Development, 2017
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.
Sun J et al.
Jimd Reports, 2017
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.
Palmer EE et al.
Molecular Genetics and Metabolism, 2015