Kei Murayama

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita et al. · PLoS Genetics · 2016 · 293 citations · Full text

Mitochondrial Dysfunction, Genetics, Genetic Epidemiology +18

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 184 citations · Full text

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E. Frazier, Romina Durigon et al. · Brain · 2017 · 157 citations · Full text

Engineering, Mitochondrial Dysfunction, Genetics +22

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach et al. · The American Journal of Human Genetics · 2014 · 152 citations · Full text

Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease

Kana Asano, Takeo Suzuki, Ayaka Saito et al. · Nucleic Acids Research · 2018 · 151 citations · Full text