Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalitiesElla F. Whittle, Christopher J. Carroll, Rebecca Ganetzky et al.|Genetics in Medicine|2022Cited by 29
<scp>PI4K2A</scp> deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathyHormos Salimi Dafsari, Reza Maroofian, Narges Hashemi et al.|Annals of Clinical and Translational Neurology|2022Cited by 24
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8Ilse Van Gucht, Aline Verstraeten, Jenny C. Taylor et al.|The American Journal of Human Genetics|2021Cited by 20
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolismNatalie Keller, Mert Karakaya, Natalia Mendoza-Ferreira et al.|Neuromuscular Disorders|2020Cited by 18
Genetic Insights from Consanguineous Cardiomyopathy FamiliesConstance Maurer, Yalda Jamshidi, Farzaneh Norouzi et al.|Genes|2023Cited by 15