| Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome Y Tsurusaki, N Okamoto, H Ohashi, T Kosho, Y Imai, Y Hibi-Ko, T Kaname, ... Nature genetics 44 (4), 376-378, 2012 | 549 | 2012 |
| De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood H Saitsu, T Nishimura, K Muramatsu, H Kodera, S Kumada, K Sugai, ... Nature genetics 45 (4), 445-449, 2013 | 475 | 2013 |
| Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease S Miyatake, N Miyake, H Touho, A Nishimura-Tadaki, Y Kondo, I Okada, ... Neurology 78 (11), 803-810, 2012 | 309 | 2012 |
| Human genetic variation database, a reference database of genetic variations in the Japanese population K Higasa, N Miyake, J Yoshimura, K Okamura, T Niihori, H Saitsu, ... Journal of human genetics 61 (6), 547-553, 2016 | 291 | 2016 |
| Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation M Kato, T Yamagata, M Kubota, H Arai, S Yamashita, T Nakagawa, T FujII, ... Epilepsia 54 (7), 1282-1287, 2013 | 256 | 2013 |
| Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome K Nakamura, M Kato, H Osaka, S Yamashita, E Nakagawa, K Haginoya, ... Neurology 81 (11), 992-998, 2013 | 247 | 2013 |
| KDM 6 A point mutations cause K abuki syndrome N Miyake, S Mizuno, N Okamoto, H Ohashi, M Shiina, K Ogata, ... Human mutation 34 (1), 108-110, 2013 | 245 | 2013 |
| De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy K Nakamura, H Kodera, T Akita, M Shiina, M Kato, H Hoshino, ... The American Journal of Human Genetics 93 (3), 496-505, 2013 | 235 | 2013 |
| Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy G Ravenscroft, S Miyatake, VL Lehtokari, EJ Todd, P Vornanen, KS Yau, ... The American Journal of Human Genetics 93 (1), 6-18, 2013 | 213 | 2013 |
| MLL2 and KDM6A mutations in patients with Kabuki syndrome N Miyake, E Koshimizu, N Okamoto, S Mizuno, T Ogata, T Nagai, T Kosho, ... American journal of medical genetics Part A 161 (9), 2234-2243, 2013 | 205 | 2013 |
| Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb M Nakashima, H Saitsu, N Takei, J Tohyama, M Kato, H Kitaura, M Shiina, ... Annals of neurology 78 (3), 375-386, 2015 | 198 | 2015 |
| Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy H Saitsu, H Osaka, M Sasaki, J Takanashi, K Hamada, A Yamashita, ... The American Journal of Human Genetics 89 (5), 644-651, 2011 | 183 | 2011 |
| Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly Y Yoneda, K Haginoya, M Kato, H Osaka, K Yokochi, H Arai, A Kakita, ... Annals of neurology 73 (1), 48-57, 2013 | 174 | 2013 |
| Early onset epileptic encephalopathy caused by de novo SCN8A mutations C Ohba, M Kato, S Takahashi, T Lerman‐Sagie, D Lev, H Terashima, ... Epilepsia 55 (7), 994-1000, 2014 | 168 | 2014 |
| Loss‐of‐function mutations of CHST14 in a new type of Ehlers‐Danlos syndrome N Miyake, T Kosho, S Mizumoto, T Furuichi, A Hatamochi, Y Nagashima, ... Human mutation 31 (8), 966-974, 2010 | 168 | 2010 |
| Integrative analyses of de novo mutations provide deeper biological insights into autism spectrum disorder A Takata, N Miyake, Y Tsurusaki, R Fukai, S Miyatake, E Koshimizu, ... Cell reports 22 (3), 734-747, 2018 | 160 | 2018 |
| Coffin–Siris syndrome is a SWI/SNF complex disorder Y Tsurusaki, N Okamoto, H Ohashi, S Mizuno, N Matsumoto, Y Makita, ... Clinical genetics 85 (6), 548-554, 2014 | 148 | 2014 |
| De novo SOX11 mutations cause Coffin–Siris syndrome Y Tsurusaki, E Koshimizu, H Ohashi, S Phadke, I Kou, M Shiina, T Suzuki, ... Nature Communications 5 (1), 4011, 2014 | 146 | 2014 |
| Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders M Nakajima, S Mizumoto, N Miyake, R Kogawa, A Iida, H Ito, H Kitoh, ... The American Journal of Human Genetics 92 (6), 927-934, 2013 | 135 | 2013 |
| DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis N Kubo, H Toh, K Shirane, T Shirakawa, H Kobayashi, T Sato, H Sone, ... Bmc Genomics 16, 1-17, 2015 | 126 | 2015 |
Naomichi MatsumotoYokohama City University確認したメール アドレス: yokohama-cu.ac.jp
