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 | 670 | 2006 |
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 | 551 | 2012 |
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 | 352 | 2013 |
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 | 310 | 2012 |
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 | 245 | 2013 |
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 | 206 | 2013 |
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 | 195 | 2006 |
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 | 190 | 2019 |
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 | 166 | 2003 |
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 | 165 | 2017 |
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 | 161 | 2018 |
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 | 156 | 1992 |
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 | 150 | 2014 |
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 |
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 | 142 | 2014 |
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 | 134 | 2010 |
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 | 124 | 2017 |
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 | 123 | 2016 |
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 | 121 | 1996 |
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 | 120 | 2007 |