Follow
Nobuhiko Okamoto
Nobuhiko Okamoto
Osaka Women's and Children's Hospital
Verified email at osaka.email.ne.jp
Title
Cited by
Cited by
Year
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
6682006
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
5482012
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
Y Aoki, T Niihori, T Banjo, N Okamoto, S Mizuno, K Kurosawa, T Ogata, ...
The American Journal of Human Genetics 93 (1), 173-180, 2013
3512013
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
3092012
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
2452013
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
2042013
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations
M Aramaki, T Udaka, R Kosaki, Y Makita, N Okamoto, H Yoshihashi, H Oki, ...
The Journal of pediatrics 148 (3), 410-414, 2006
1952006
Kabuki syndrome: international consensus diagnostic criteria
MP Adam, S Banka, HT Bjornsson, O Bodamer, AE Chudley, J Harris, ...
Journal of medical genetics 56 (2), 89-95, 2019
1862019
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion
N Kurotaki, N Harada, O Shimokawa, N Miyake, H Kawame, K Uetake, ...
Human mutation 22 (5), 378-387, 2003
1672003
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
ND Shaw, H Brand, ZA Kupchinsky, H Bengani, L Plummer, TI Jones, ...
Nature genetics 49 (2), 238-248, 2017
1652017
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
1602018
Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome
Y Wada, A Nishikawa, N Okamoto, K Inui, H Tsukamoto, S Okada, ...
Biochemical and biophysical research communications 189 (2), 832-836, 1992
1551992
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
1482014
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
1452014
Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A
T Kosho, N Okamoto, Coffin‐Siris Syndrome International Collaborators
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014
1402014
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant …
T Kobayashi, Y Aoki, T Niihori, H Cavé, A Verloes, N Okamoto, H Kawame, ...
Human mutation 31 (3), 284-294, 2010
1342010
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
CT Gordon, S Xue, G Yigit, H Filali, K Chen, N Rosin, K Yoshiura, ...
Nature genetics 49 (2), 249-255, 2017
1232017
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay
H Saitsu, R Fukai, B Ben-Zeev, Y Sakai, M Mimaki, N Okamoto, Y Suzuki, ...
European Journal of Human Genetics 24 (1), 129-134, 2016
1222016
Hereditary ceruloplasmin deficiency with hemosiderosis
N Okamoto, S Wada, T Oga, Y Kawabata, Y Baba, D Habu, Z Takeda, ...
Human genetics 97, 755-758, 1996
1211996
Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome
Y Narumi, Y Aoki, T Niihori, G Neri, H Cavé, A Verloes, C Nava, ...
American Journal of Medical Genetics Part A 143 (8), 799-807, 2007
1202007
The system can't perform the operation now. Try again later.
Articles 1–20