Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communitiesMarni J. Falk, Håkon Håkonarson, Li Shen et al.|Molecular Genetics and Metabolism|2014Cited by 91
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Tobias B. Haack, Ahmad Alahmad et al.|The American Journal of Human Genetics|2022Cited by 22
Phenotypic continuum of <scp><i>NFU1</i></scp>‐related disordersRauan Kaiyrzhanov, Reza Maroofian, Maha S. Zaki et al.|Annals of Clinical and Translational Neurology|2022Cited by 7