Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
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Recent insights into the implications of UGDH mutations for human developmental disease.
Harwood H et al.
Biochemical Society Transactions, 2025
Clinical insights into dental care for siblings with Jamuar syndrome: a rare genetic dual case report.
Bhandary R et al.
European Archives of Paediatric Dentistry : Official Journal of the European Academy of Paediatric Dentistry, 2025
Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency.
Suyo C et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.
Plante-Bordeneuve P et al.
American Journal of Medical Genetics. Part A, 2024
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
Jiang L et al.
Molecular Genetics & Genomic Medicine, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
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Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
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Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia.
Alaamery M et al.
Frontiers in Genetics, 2023
A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism.
Buckley RM et al.
Plos Genetics, 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel H et al.
Nature Communications, 2020
A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia.
Alhamoudi KM et al.
Frontiers in Pediatrics, 2020
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