关注
Satoko Miyatake
Satoko Miyatake
在 yokohama-cu.ac.jp 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
5552012
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
3142012
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
2392013
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
2152013
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
1802013
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
1652018
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
1612015
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
1462014
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
1222011
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
1202019
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
1192013
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
1182015
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
1062019
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
1032017
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
942016
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
902016
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
852015
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
852011
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
802015
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
772016
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