Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
TSURUSAKI, Yoshinori, OKAMOTO, Nobuhiko, FUKUSHIMA, Yoshimitsu, HOMMA, Tomomi, KATO, Mitsuhiro, HIRAKI, Yoko, YAMAGATA, Takanori, YANO, Shoji, MIZUNO, Seiji, SAKAZUME, Satoru, ISHII, Takuma, NAGAI, Toshiro, OHASHI, Hirofumi, SHIINA, Masaaki, OGATAL, Kazuhiro, OHTA, Tohru, NIIKAWA, Norio, MIYATAKE, Satoko, OKADA, Ippei, MIZUGUCHI, Takeshi, DOI, Hiroshi, SAITSU, Hirotomo, MIYAKE, Noriko, KOSHO, Tomoki, MATSUMOTO, Naomichi, IMAI, Yoko, HIBI-KO, Yumiko, KANAME, Tadashi, NARITOMI, Kenji, KAWAME, Hiroshi, WAKUI, Keiko
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations
Jinam, Timothy, Nishida, Nao, Hirai, Momoki, Kawamura, Shoji, Oota, Hiroki, Umetsu, Kazuo, Kimura, Ryosuke, Ohashi, Jun, Tajima, Atsushi, Yamamoto, Toshimichi, Tanabe, Hideyuki, Mano, Shuhei, Suto, Yumiko, Kaname, Tadashi, Naritomi, Kenji, Yanagi, Kumiko, Niikawa, Norio, Omoto, Keiichi, Tokunaga, Katsushi, Saitou, Naruya
Published in Journal of human genetics (01.12.2012)
Published in Journal of human genetics (01.12.2012)
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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Heron, Delphine, Okamoto, Nobuhiko, Hennekam, Raoul C M, Ohashi, Hirofumi, Wilson, Louise, Kurosawa, Kenji, Baumann, Clarisse, Wieczorek, Dagmar, Kavamura, Maria Ines, Matsubara, Yoichi, Gillessen-Kaesbach, Gabriele, Kaname, Tadashi, Naritomi, Kenji, Kato, Kumi, Narumi, Yoko, Neri, Giovanni, Corona, Giuseppina, Aoki, Yoko, Niihori, Tetsuya, Cavé, Hélène, Verloes, Alain, Matsumoto, Naomichi, Kure, Shigeo, Bonneau, Dominique
Published in Nature genetics (01.03.2006)
Published in Nature genetics (01.03.2006)
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Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
Yoneda, Yuriko, Saitsu, Hirotomo, Touyama, Mayumi, Makita, Yoshio, Miyamoto, Akie, Hamada, Keisuke, Kurotaki, Naohiro, Tomita, Hiroaki, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Ogata, Kazuhiro, Naritomi, Kenji, Matsumoto, Naomichi
Published in Journal of human genetics (01.03.2012)
Published in Journal of human genetics (01.03.2012)
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A commentary on the promise of whole-exome sequencing in medical genetics
Kaname, Tadashi, Yanagi, Kumiko, Naritomi, Kenji
Published in Journal of human genetics (01.03.2014)
Published in Journal of human genetics (01.03.2014)
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Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI
Chinen, Yasutsugu, Nakamura, Sadao, Yanagi, Kumiko, Kaneshi, Takuya, Goya, Hideki, Yoshida, Tomohide, Satou, Kazuhito, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Published in Human genome variation (31.03.2022)
Published in Human genome variation (31.03.2022)
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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
Hannibal, Mark C., Buckingham, Kati J., Ng, Sarah B., Ming, Jeffrey E., Beck, Anita E., McMillin, Margaret J., Gildersleeve, Heidi I., Bigham, Abigail W., Tabor, Holly K., Mefford, Heather C., Cook, Joseph, Yoshiura, Koh-ichiro, Matsumoto, Tadashi, Matsumoto, Naomichi, Miyake, Noriko, Tonoki, Hidefumi, Naritomi, Kenji, Kaname, Tadashi, Nagai, Toshiro, Ohashi, Hirofumi, Kurosawa, Kenji, Hou, Jia-Woei, Ohta, Tohru, Liang, Deshung, Sudo, Akira, Morris, Colleen A., Banka, Siddharth, Black, Graeme C., Clayton-Smith, Jill, Nickerson, Deborah A., Zackai, Elaine H., Shaikh, Tamim H., Donnai, Dian, Niikawa, Norio, Shendure, Jay, Bamshad, Michael J.
Published in American journal of medical genetics. Part A (01.07.2011)
Published in American journal of medical genetics. Part A (01.07.2011)
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A severe case of status dystonicus caused by a de novo KMT2B missense mutation
Nakamura, Sadao, Chinen, Yasutsugu, Satou, Kazuhito, Tokashiki, Takashi, Kumada, Satoko, Yanagi, Kumiko, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Published in European journal of medical genetics (01.11.2020)
Published in European journal of medical genetics (01.11.2020)
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Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature
Kosho, Tomoki, Okamoto, Nobuhiko, Ohashi, Hirofumi, Tsurusaki, Yoshinori, Imai, Yoko, Hibi-Ko, Yumiko, Kawame, Hiroshi, Homma, Tomomi, Tanabe, Saori, Kato, Mitsuhiro, Hiraki, Yoko, Yamagata, Takanori, Yano, Shoji, Sakazume, Satoru, Ishii, Takuma, Nagai, Toshiro, Ohta, Tohru, Niikawa, Norio, Mizuno, Seiji, Kaname, Tadashi, Naritomi, Kenji, Narumi, Yoko, Wakui, Keiko, Fukushima, Yoshimitsu, Miyatake, Satoko, Mizuguchi, Takeshi, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi
Published in American journal of medical genetics. Part A (01.06.2013)
Published in American journal of medical genetics. Part A (01.06.2013)
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A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation
Chinen, Yasutsugu, Nakamura, Sadao, Kaneshi, Takuya, Nakayashiro, Mami, Yanagi, Kumiko, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Published in Human genome variation (13.05.2019)
Published in Human genome variation (13.05.2019)
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Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism
Ganaha, Akira, Kaname, Tadashi, Akazawa, Yukinori, Higa, Teruyuki, Shinjou, Ayano, Naritomi, Kenji, Suzuki, Mikio
Published in Journal of human genetics (01.01.2015)
Published in Journal of human genetics (01.01.2015)
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A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data
Chinen, Yasutsugu, Yanagi, Kumiko, Nakamura, Sadao, Nakayama, Noriko, Kamiya, Motoko, Nakayashiro, Mami, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Published in Human genome variation (16.04.2020)
Published in Human genome variation (16.04.2020)
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A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders
Kaname, Tadashi, Yanagi, Kumiko, Naritomi, Kenji
Published in Journal of human genetics (01.02.2013)
Published in Journal of human genetics (01.02.2013)
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Prenatal diagnosis of X‐linked recessive Lenz microphthalmia syndrome
Suzumori, Nobuhiro, Kaname, Tadashi, Muramatsu, Yukako, Yanagi, Kumiko, Kumagai, Kyoko, Mizuno, Seiji, Naritomi, Kenji, Saitoh, Shinji, Sugiura‐Ogasawara, Mayumi
Published in The journal of obstetrics and gynaecology research (01.11.2013)
Published in The journal of obstetrics and gynaecology research (01.11.2013)
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Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
Kuniba, Hideo, Yoshiura, Koh-ichiro, Kondoh, Tatsuro, Ohashi, Hirofumi, Kurosawa, Kenji, Tonoki, Hidefumi, Nagai, Toshiro, Okamoto, Nobuhiko, Kato, Mitsuhiro, Fukushima, Yoshimitsu, Kaname, Tadashi, Naritomi, Kenji, Matsumoto, Tadashi, Moriuchi, Hiroyuki, Kishino, Tatsuya, Kinoshita, Akira, Miyake, Noriko, Matsumoto, Naomichi, Niikawa, Norio
Published in Journal of human genetics (01.05.2009)
Published in Journal of human genetics (01.05.2009)
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Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder
Kaname, Tadashi, Yanagi, Kumiko, Wakui, Keiko, Hashimoto, Ohiko, Fukushima, Yoshimitsu, Naritomi, Kenji
Published in Autism Research and Treatment (01.01.2012)
Published in Autism Research and Treatment (01.01.2012)
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Novel alternative splicing of human faciogenital dysplasia 1 gene
Yanagi, Kumiko, Kaname, Tadashi, Chinen, Yasutsugu, Naritomi, Kenji
Published in Congenital anomalies (01.09.2004)
Published in Congenital anomalies (01.09.2004)
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Mapping Human Genetic Diversity in Asia
Abdulla, Mahmood Ameen, Ahmed, Ikhlak, Assawamakin, Anunchai, Bhak, Jong, Brahmachari, Samir K, Calacal, Gayvelline C, Chaurasia, Amit, Chen, Chien-Hsiun, Chen, Jieming, Chen, Yuan-Tsong, Chu, Jiayou, Cutiongco-de la Paz, Eva Maria C, De Ungria, Maria Corazon A, Delfin, Frederick C, Edo, Juli, Fuchareon, Suthat, Ghang, Ho, Gojobori, Takashi, Han, Junsong, Ho, Sheng-Feng, Hoh, Boon Peng, Huang, Wei, Inoko, Hidetoshi, Jha, Pankaj, Jinam, Timothy A, Jin, Li, Jung, Jongsun, Kangwanpong, Daoroong, Kampuansai, Jatupol, Kennedy, Giulia C, Khurana, Preeti, Kim, Hyung-Lae, Kim, Kwangjoong, Kim, Sangsoo, Kim, Woo-Yeon, Kimm, Kuchan, Kimura, Ryosuke, Koike, Tomohiro, Kulawonganunchai, Supasak, Kumar, Vikrant, Lai, Poh San, Lee, Jong-Young, Lee, Sunghoon, Liu, Edison T, Majumder, Partha P, Mandapati, Kiran Kumar, Marzuki, Sangkot, Mitchell, Wayne, Mukerji, Mitali, Naritomi, Kenji, Ngamphiw, Chumpol, Niikawa, Norio, Nishida, Nao, Oh, Bermseok, Oh, Sangho, Ohashi, Jun, Oka, Akira, Ong, Rick, Padilla, Carmencita D, Palittapongarnpim, Prasit, Perdigon, Henry B, Phipps, Maude Elvira, Png, Eileen, Sakaki, Yoshiyuki, Salvador, Jazelyn M, Sandraling, Yuliana, Scaria, Vinod, Seielstad, Mark, Sidek, Mohd Ros, Sinha, Amit, Srikummool, Metawee, Sudoyo, Herawati, Sugano, Sumio, Suryadi, Helena, Suzuki, Yoshiyuki, Tabbada, Kristina A, Tan, Adrian, Tokunaga, Katsushi, Tongsima, Sissades, Villamor, Lilian P, Wang, Eric, Wang, Ying, Wang, Haifeng, Wu, Jer-Yuarn, Xiao, Huasheng, Xu, Shuhua, Yang, Jin Ok, Shugart, Yin Yao, Yoo, Hyang-Sook, Yuan, Wentao, Zhao, Guoping, Zilfalil, Bin Alwi
Published in Science (American Association for the Advancement of Science) (11.12.2009)
Published in Science (American Association for the Advancement of Science) (11.12.2009)
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