Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Whittle EF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Structural basis for the activity and regulation of human α-ketoglutarate dehydrogenase revealed by Cryo-EM.
Zhong Y et al.
Biochemical and Biophysical Research Communications, 2022
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease.
Yap ZY et al.
Journal of Inherited Metabolic Disease, 2021
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