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Journal of Medical Genetics|March 19, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiencyAbdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, et al.Brain Communications|February 18, 2025
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairmentRauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, et al.Human Mutation|May 4, 2019
Functional classification of ATM variants in ataxia-telangiectasia patientsAlice Fiévet, Dorine Bellanger, Guillaume Rieunier, et al.Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.American Journal of Human Genetics|December 7, 2015
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsJason A O'Rawe, Yiyang Wu, Max J Dörfel, et al.Human Mutation|January 7, 2010
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype studyMarjan E Steenweg, Cornelis Jakobs, Abdellatif Errami, et al.Journal of Clinical Immunology|September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and HypogammaglobulinemiaFrancesco Saettini, Fabiola Guerra, Mario Mauri, et al.Neuropediatrics|June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseGillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.The Lancet. Neurology|November 5, 2013
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control studyGillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.Pageof 14