Neurologic Phenotypes Associated With Mutations in <i>RTN4IP1</i> (<i>OPA10</i>) in Children and Young AdultsMajida Charif, Guy Lenaers, Céline Bris et al.|JAMA Neurology|2017Cited by 35
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxiaZheng Yie Yap, Wan Hee Yoon, Stéphanie Efthymiou et al.|The American Journal of Human Genetics|2021Cited by 33
Novel <i>NDUFA12</i> variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Daria Diodato, Alessia Nasca et al.|Human Mutation|2021Cited by 22