Associated Papers
An Emerging Role for OGDHL: From Mitochondrial Energy Metabolism to Neurodevelopmental Disorders.
Liu X et al.
Biology, 2025
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
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ et al.
Genome Medicine, 2023
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH et al.
Human Genomics, 2022
36539902 (PubMed )
Supplement: 40246_2022_444_MOESM2_ESM.xlsx › Epilepsy_Uncertain_variants
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Yap ZY et al.
American Journal of Human Genetics, 2021
Modifier genes in SCN1A-related epilepsy syndromes.
de Lange IM et al.
Molecular Genetics & Genomic Medicine, 2020
Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.
Sherrill JD et al.
Jci Insight, 2018
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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