| A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies M Kohda, Y Tokuzawa, Y Kishita, H Nyuzuki, Y Moriyama, Y Mizuno, ... PLoS genetics 12 (1), e1005679, 2016 | 314 | 2016 |
| Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy R Kopajtich, TJ Nicholls, J Rorbach, MD Metodiev, P Freisinger, H Mandel, ... The American Journal of Human Genetics 95 (6), 708-720, 2014 | 153 | 2014 |
| Clinical implementation of RNA sequencing for Mendelian disease diagnostics VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ... Genome medicine 14 (1), 38, 2022 | 148 | 2022 |
| Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease K Asano, T Suzuki, A Saito, FY Wei, Y Ikeuchi, T Numata, R Tanaka, ... Nucleic acids research 46 (4), 1565-1583, 2018 | 144 | 2018 |
| Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement TB Haack, CB Jackson, K Murayama, LS Kremer, A Schaller, ... Annals of clinical and translational neurology 2 (5), 492-509, 2015 | 117 | 2015 |
| Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients E Ogawa, M Shimura, T Fushimi, M Tajika, K Ichimoto, A Matsunaga, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2017 | 103 | 2017 |
| Mutations in TOP3A cause a Bloom syndrome-like disorder CA Martin, CV Logan, RS Thakur, DA Parry, AH Bizard, A Leitch, L Cleal, ... The American Journal of Human Genetics 103 (2), 221-231, 2018 | 89 | 2018 |
| Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification A Ohtake, K Murayama, M Mori, H Harashima, T Yamazaki, S Tamaru, ... Biochimica et Biophysica Acta (BBA)-General Subjects 1840 (4), 1355-1359, 2014 | 84 | 2014 |
| Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies RG Feichtinger, M Oláhová, Y Kishita, C Garone, LS Kremer, M Yagi, ... The American Journal of Human Genetics 101 (4), 525-538, 2017 | 76 | 2017 |
| Intra-mitochondrial methylation deficiency due to mutations in SLC25A26 Y Kishita, A Pajak, NA Bolar, CMT Marobbio, C Maffezzini, DV Miniero, ... The American Journal of Human Genetics 97 (5), 761-768, 2015 | 74 | 2015 |
| Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus AE Frazier, AG Compton, Y Kishita, DH Hock, AME Welch, ... Med 2 (1), 49-73. e10, 2021 | 69 | 2021 |
| Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome NN Borna, Y Kishita, M Kohda, SC Lim, M Shimura, Y Wu, K Mogushi, ... neurogenetics 20, 9-25, 2019 | 60 | 2019 |
| Loss of Trx-2 enhances oxidative stress-dependent phenotypes in Drosophila M Tsuda, R Ootaka, C Ohkura, Y Kishita, KH Seong, T Matsuo, T Aigaki FEBS letters 584 (15), 3398-3401, 2010 | 49 | 2010 |
| Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation M Shimura, N Kuranobu, M Ogawa-Tominaga, N Akiyama, Y Sugiyama, ... Orphanet Journal of Rare Diseases 15, 1-9, 2020 | 47 | 2020 |
| Mortality of Japanese patients with Leigh syndrome: effects of age at onset and genetic diagnosis E Ogawa, T Fushimi, M Ogawa‐Tominaga, M Shimura, M Tajika, ... Journal of Inherited Metabolic Disease 43 (4), 819-826, 2020 | 47 | 2020 |
| Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background A Imai-Okazaki, Y Kishita, M Kohda, Y Mizuno, T Fushimi, A Matsunaga, ... International Journal of Cardiology 279, 115-121, 2019 | 47 | 2019 |
| DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. K Zaha, H Matsumoto, M Itoh, H Saitsu, K Kato, M Kato, S Ogata, ... Clinical Genetics 90 (5), 2016 | 46 | 2016 |
| Impaired energy metabolism in a Drosophila model of mitochondrial aconitase deficiency Z Cheng, M Tsuda, Y Kishita, Y Sato, T Aigaki Biochemical and biophysical research communications 433 (1), 145-150, 2013 | 41 | 2013 |
| Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein A Imai, S Fujita, Y Kishita, M Kohda, Y Tokuzawa, T Hirata, Y Mizuno, ... International Journal of Cardiology 207, 203-205, 2016 | 31 | 2016 |
| Impaired fatty acid oxidation in a Drosophila model of mitochondrial trifunctional protein (MTP) deficiency Y Kishita, M Tsuda, T Aigaki Biochemical and biophysical research communications 419 (2), 344-349, 2012 | 31 | 2012 |
