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Brain : a Journal of Neurology|May 27, 2017
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolismRadha Desai, Ann E Frazier, Romina Durigon, et al.American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.Med (New York, N.Y.)|February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locusAnn E Frazier, Alison G Compton, Yoshihito Kishita, et al.Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.Hepatology (Baltimore, Md.)|November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate originDominic Lenz, Lea D Schlieben, Masaru Shimura, et al.Pageof 21