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Journal of Inherited Metabolic Disease|December 7, 2021
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiencyHuafang Jiang, Ahmad Alahmad, Song Fu, et al.
Annals of Clinical and Translational Neurology|April 25, 2026
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial DiseaseZhimei Liu, Xin Duan, Fatemeh Peymani, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.
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