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Molecular Psychiatry|September 18, 2022
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.Molecular Genetics and Metabolism|February 20, 2026
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial diseaseOliver Heath, Francisco Del Caño-Ochoa, Safa Baris, et al.The Journal of Experimental Medicine|February 17, 2017
Fumarate hydratase is a critical metabolic regulator of hematopoietic stem cell functionsAmelie V Guitart, Theano I Panagopoulou, Arnaud Villacreces, et al.Neurology|April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationMichael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.Journal of Clinical Immunology|March 9, 2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.Journal of Inherited Metabolic Disease|February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upRuqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.American Journal of Human Genetics|January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsSeema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.Pageof 7