Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and EncephalopathyRobert Kopajtich, Michal Minczuk, Johannes A. Mayr et al.|The American Journal of Human Genetics|2014Cited by 157
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletionsChiara Frascarelli, Daniele Ghezzi|Frontiers in Genetics|2023Cited by 49
Neurologic Phenotypes Associated With Mutations in <i>RTN4IP1</i> (<i>OPA10</i>) in Children and Young AdultsMajida Charif, Guy Lenaers, Alessia Nasca 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
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Tobias B. Haack, Sami E.M. Mohammed et al.|The American Journal of Human Genetics|2022Cited by 22