| Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy YK Hayashi, C Matsuda, M Ogawa, K Goto, K Tominaga, S Mitsuhashi, ... The Journal of clinical investigation 119 (9), 2623-2633, 2009 | 451 | 2009 |
| Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease J Sone, S Mitsuhashi, A Fujita, T Mizuguchi, K Hamanaka, K Mori, H Koike, ... Nature genetics 51 (8), 1215-1221, 2019 | 393 | 2019 |
| Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy ML van den Boogaard, RJLF Lemmers, J Balog, M Wohlgemuth, ... The American Journal of Human Genetics 98 (5), 1020-1029, 2016 | 243 | 2016 |
| MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation MS Alexander, G Kawahara, N Motohashi, JC Casar, I Eisenberg, ... Cell Death & Differentiation 20 (9), 1194-1208, 2013 | 154 | 2013 |
| A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis S Mitsuhashi, A Ohkuma, B Talim, M Karahashi, T Koumura, C Aoyama, ... The American Journal of Human Genetics 88 (6), 845-851, 2011 | 149 | 2011 |
| Progressive wild-type transthyretin deposition after liver transplantation preferentially occurs onto myocardium in FAP patients M Yazaki, S Mitsuhashi, T Tokuda, F Kametani, YI Takei, J Koyama, ... American journal of transplantation 7 (1), 235-242, 2007 | 132 | 2007 |
| Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads S Mitsuhashi, MC Frith, T Mizuguchi, S Miyatake, T Toyota, H Adachi, ... Genome biology 20, 1-17, 2019 | 120 | 2019 |
| Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations M Okubo, N Minami, K Goto, Y Goto, S Noguchi, S Mitsuhashi, I Nishino Journal of human genetics 61 (6), 483-489, 2016 | 116 | 2016 |
| Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy K Hamanaka, D Šikrová, S Mitsuhashi, H Masuda, Y Sekiguchi, ... Neurology 94 (23), e2441-e2447, 2020 | 107 | 2020 |
| GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy M Okubo, H Doi, R Fukai, A Fujita, S Mitsuhashi, S Hashiguchi, H Kishida, ... Annals of neurology 86 (6), 962-968, 2019 | 106 | 2019 |
| A portable system for rapid bacterial composition analysis using a nanopore-based sequencer and laptop computer S Mitsuhashi, K Kryukov, S Nakagawa, JS Takeuchi, Y Shiraishi, K Asano, ... Scientific reports 7 (1), 5657, 2017 | 104 | 2017 |
| Long-read sequencing for rare human genetic diseases S Mitsuhashi, N Matsumoto Journal of Human Genetics 65 (1), 11-19, 2020 | 93 | 2020 |
| The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States HM Reddy, KA Cho, M Lek, E Estrella, E Valkanas, MD Jones, ... Journal of human genetics 62 (2), 243-252, 2017 | 91 | 2017 |
| Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy S Mitsuhashi, H Hatakeyama, M Karahashi, T Koumura, I Nonaka, ... Human molecular genetics 20 (19), 3841-3851, 2011 | 91 | 2011 |
| Update on the genetics of limb girdle muscular dystrophy S Mitsuhashi, PB Kang Seminars in pediatric neurology 19 (4), 211-218, 2012 | 89 | 2012 |
| Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy H Mitsuhashi, S Mitsuhashi, T Lynn-Jones, G Kawahara, LM Kunkel Human Molecular Genetics 22 (3), 568-577, 2013 | 88 | 2013 |
| Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores SE Boyden, LJ Mahoney, G Kawahara, JA Myers, S Mitsuhashi, ... Neurogenetics 13, 115-124, 2012 | 84 | 2012 |
| Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies WC Liang, A Uruha, S Suzuki, N Murakami, E Takeshita, WZ Chen, ... Rheumatology, kew386, 2016 | 83 | 2016 |
| Biallelic mutations in MYPN, encoding myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy S Miyatake, S Mitsuhashi, YK Hayashi, E Purevjav, A Nishikawa, ... The American Journal of Human Genetics 100 (1), 169-178, 2017 | 74 | 2017 |
| Characterization of the Asian myopathy patients with VCP mutations Z Shi, YK Hayashi, S Mitsuhashi, K Goto, D Kaneda, YC Choi, C Toyoda, ... European journal of neurology 19 (3), 501-509, 2012 | 64 | 2012 |
