Akira Ohtake

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 · 305 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I

Michael Lazarou, Matthew McKenzie, Akira Ohtake et al. · Molecular and Cellular Biology · 2007 · 267 citations · Full text

Life Sciences, Biology, Molecular Biology +17

Constitutively Activated ALK2 and Increased SMAD1/5 Cooperatively Induce Bone Morphogenetic Protein Signaling in Fibrodysplasia Ossificans Progressiva

Toru Fukuda, Masakazu Kohda, Kazuhiro Kanomata et al. · Journal of Biological Chemistry · 2008 · 209 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

Denise M. Kirby, Renato Salemi, Canny Sugiana et al. · Journal of Clinical Investigation · 2004 · 187 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17