Prati
Naomichi Matsumoto
Naomichi Matsumoto
Potvrđena adresa e-pošte na yokohama-cu.ac.jp
Naslov
Citirano
Citirano
Godina
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
SB Ng, AW Bigham, KJ Buckingham, MC Hannibal, MJ McMillin, ...
Nature genetics 42 (9), 790-793, 2010
16372010
Heterozygous TGFBR2 mutations in Marfan syndrome
T Mizuguchi, G Collod-Beroud, T Akiyama, M Abifadel, N Harada, ...
Nature genetics 36 (8), 855-860, 2004
7952004
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
T Niihori, Y Aoki, Y Narumi, G Neri, H Cavé, A Verloes, N Okamoto, ...
Nature genetics 38 (3), 294-296, 2006
6782006
Haploinsufficiency of NSD1 causes Sotos syndrome
N Kurotaki, K Imaizumi, N Harada, M Masuno, T Kondoh, T Nagai, ...
Nature genetics 30 (4), 365-366, 2002
6742002
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
6212008
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
5562012
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
4762013
Olfactory receptor–gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
S Giglio, KW Broman, N Matsumoto, V Calvari, G Gimelli, T Neumann, ...
The American Journal of Human Genetics 68 (4), 874-883, 2001
4252001
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
4002019
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
DT Pilz, N Matsumoto, S Minnerath, P Mills, JG Gleeson, KM Allen, ...
Human molecular genetics 7 (13), 2029-2037, 1998
3941998
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7
S Narumi, N Amano, T Ishii, N Katsumata, K Muroya, M Adachi, ...
Nature genetics 48 (7), 792-797, 2016
3342016
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
3192012
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
K Yamada, C Andrews, WM Chan, CA McKeown, A Magli, ...
Nature genetics 35 (4), 318-321, 2003
3002003
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
2992016
Kabuki make‐up syndrome: a review
N Matsumoto, N Niikawa
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2003
2692003
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
2632013
Differences in the gyral pattern distinguish chromosome 17–linked and X-linked lissencephaly
WB Dobyns, CL Truwit, ME Ross, N Matsumoto, DT Pilz, DH Ledbetter, ...
Neurology 53 (2), 270-270, 1999
2601999
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
2522013
Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation
D Kurotaki, N Osato, A Nishiyama, M Yamamoto, T Ban, H Sato, ...
Blood, The Journal of the American Society of Hematology 121 (10), 1839-1849, 2013
2502013
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
2502013
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