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 | 555 | 2012 |
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 | 314 | 2012 |
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 | 239 | 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 | 215 | 2013 |
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 | 180 | 2013 |
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 | 165 | 2018 |
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels Y Endo, S Noguchi, Y Hara, YK Hayashi, K Motomura, S Miyatake, ... Human molecular genetics 24 (3), 637-648, 2015 | 161 | 2015 |
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 |
SMOC1 is essential for ocular and limb development in humans and mice I Okada, H Hamanoue, K Terada, T Tohma, A Megarbane, E Chouery, ... The American Journal of Human Genetics 88 (1), 30-41, 2011 | 122 | 2011 |
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 |
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature T Kosho, N Okamoto, H Ohashi, Y Tsurusaki, Y Imai, Y Hibi‐Ko, ... American journal of medical genetics Part A 161 (6), 1221-1237, 2013 | 119 | 2013 |
Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome N Miyake, H Tsukaguchi, E Koshimizu, A Shono, S Matsunaga, M Shiina, ... The American Journal of Human Genetics 97 (4), 555-566, 2015 | 118 | 2015 |
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 |
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome E Imagawa, K Higashimoto, Y Sakai, C Numakura, N Okamoto, ... Human mutation 38 (6), 637-648, 2017 | 103 | 2017 |
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay H Saitsu, M Watanabe, T Akita, C Ohba, K Sugai, WP Ong, H Shiraishi, ... Scientific reports 6 (1), 30072, 2016 | 94 | 2016 |
Pathogenic variants in PIGG cause intellectual disability with seizures and hypotonia P Makrythanasis, M Kato, MS Zaki, H Saitsu, K Nakamura, FA Santoni, ... The American Journal of Human Genetics 98 (4), 615-626, 2016 | 90 | 2016 |
A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34 K Ozaki, H Doi, J Mitsui, N Sato, Y Iikuni, T Majima, K Yamane, T Irioka, ... JAMA neurology 72 (7), 797-805, 2015 | 85 | 2015 |
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation H Doi, K Yoshida, T Yasuda, M Fukuda, Y Fukuda, H Morita, S Ikeda, ... The American Journal of Human Genetics 89 (2), 320-327, 2011 | 85 | 2011 |
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing H Saitsu, T Akita, J Tohyama, H Goldberg-Stern, Y Kobayashi, R Cohen, ... Scientific reports 5 (1), 15199, 2015 | 80 | 2015 |
Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome Y Uchiyama, M Nakashima, S Watanabe, M Miyajima, M Taguri, ... Scientific reports 6 (1), 22985, 2016 | 77 | 2016 |