Follow
Hirotomo Saitsu
Hirotomo Saitsu
Professor, Department of Biochemistry
Verified email at hama-med.ac.jp
Title
Cited by
Cited by
Year
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
H Saitsu, M Kato, T Mizuguchi, K Hamada, H Osaka, J Tohyama, K Uruno, ...
Nature genetics 40 (6), 782-788, 2008
6132008
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
5412012
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
4692013
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
3052012
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
2892016
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
2572013
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
2452013
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
2442013
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
2342013
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
2132013
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
2002013
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
1982015
Hedgehog signaling is involved in development of the neocortex
M Komada, H Saitsu, M Kinboshi, T Miura, K Shiota, M Ishibashi
Oxford University Press for The Company of Biologists Limited 135 (16), 2717 …, 2008
1922008
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
1822011
Dominant-negative mutations in α-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay
H Saitsu, J Tohyama, T Kumada, K Egawa, K Hamada, I Okada, ...
The American Journal of Human Genetics 86 (6), 881-891, 2010
1752010
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
1712013
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
1682010
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
1672014
STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern
H Saitsu, M Kato, I Okada, KE Orii, T Higuchi, H Hoshino, M Kubota, ...
Epilepsia 51 (12), 2397-2405, 2010
1662010
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
1582018
The system can't perform the operation now. Try again later.
Articles 1–20