| 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 | 292 | 2016 |
| Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva T Fukuda, M Kohda, K Kanomata, J Nojima, A Nakamura, J Kamizono, ... Journal of Biological Chemistry 284 (11), 7149-7156, 2009 | 222 | 2009 |
| 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 | 140 | 2014 |
| Frequent loss of imprinting of IGF2 and MEST in lung adenocarcinoma M Kohda, H Hoshiya, M Katoh, I Tanaka, R Masuda, T Takemura, ... Molecular Carcinogenesis: Published in cooperation with the University of …, 2001 | 133 | 2001 |
| ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ... Brain 140 (6), 1595-1610, 2017 | 131 | 2017 |
| Knockdown of COPA, identified by loss-of-function screen, induces apoptosis and suppresses tumor growth in mesothelioma mouse model H Sudo, AB Tsuji, A Sugyo, M Kohda, C Sogawa, C Yoshida, Y Harada, ... Genomics 95 (4), 210-216, 2010 | 120 | 2010 |
| COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency G Brea-Calvo, TB Haack, D Karall, A Ohtake, F Invernizzi, R Carrozzo, ... The American Journal of Human Genetics 96 (2), 309-317, 2015 | 113 | 2015 |
| 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 | 110 | 2015 |
| Induction of protective immunity to cryptococcal infection in mice by a heat-killed, chitosan-deficient strain of Cryptococcus neoformans R Upadhya, WC Lam, B Maybruck, CA Specht, SM Levitz, JK Lodge MBio 7 (3), 10.1128/mbio. 00547-16, 2016 | 97 | 2016 |
| 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 | 96 | 2017 |
| A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA T Awata, H Yamashita, S Kurihara, T Morita-Ohkubo, Y Miyashita, ... PloS one 9 (11), e111715, 2014 | 95 | 2014 |
| Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients H Miyazawa, M Kato, T Awata, M Kohda, H Iwasa, N Koyama, T Tanaka, ... The American Journal of Human Genetics 80 (6), 1090-1102, 2007 | 92 | 2007 |
| Large-scale evaluation of imprinting status in the Prader–Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes M Meguro, K Mitsuya, N Nomura, M Kohda, A Kashiwagi, R Nishigaki, ... Human molecular genetics 10 (4), 383-394, 2001 | 92 | 2001 |
| 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 | 83 | 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 | 80 | 2014 |
| Haplotype-based analysis of genes associated with risk of adverse skin reactions after radiotherapy in breast cancer patients T Suga, A Ishikawa, M Kohda, Y Otsuka, S Yamada, N Yamamoto, ... International Journal of Radiation Oncology* Biology* Physics 69 (3), 685-693, 2007 | 79 | 2007 |
| A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era SB Wortmann, JA Mayr, JM Nuoffer, H Prokisch, W Sperl Neuropediatrics 48 (04), 309-314, 2017 | 78 | 2017 |
| Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population K Mori, K Horie-Inoue, M Kohda, I Kawasaki, PL Gehlbach, T Awata, ... Journal of human genetics 52 (7), 636-641, 2007 | 73 | 2007 |
| 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 | 69 | 2015 |
| 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 | 67 | 2017 |
Yasushi OkazakiIntractable Disease Research Center, Juntendo University在 juntendo.ac.jp 的电子邮件经过验证
