Associated Papers
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.
Staklinski SJ et al.
International Journal of Molecular Sciences, 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
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
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
Comparative sequence analysis of patient-matched primary colorectal cancer, metastatic, and recurrent metastatic tumors after adjuvant FOLFOX chemotherapy.
Harada K et al.
Bmc Cancer, 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
Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.
Abhyankar A et al.
Clinical Case Reports, 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
Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy.
Gataullina S et al.
Neuropediatrics, 2016
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
Zillhardt JL et al.
European Journal of Human Genetics : Ejhg, 2016
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.
Palmer EE et al.
Molecular Genetics and Metabolism, 2015
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.
Ben-Salem S et al.
Metabolic Brain Disease, 2015
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
Mercimek-Mahmutoglu S et al.
Orphanet Journal of Rare Diseases, 2015
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.
Alfadhel M et al.
Jimd Reports, 2015
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Ruzzo EK et al.
Neuron, 2013