Coffin-Siris syndrome is a SWI/SNF complex disorder
Tsurusaki, Y., Okamoto, N., Ohashi, H., Mizuno, S., Matsumoto, N., Makita, Y., Fukuda, M., Isidor, B., Perrier, J., Aggarwal, S., Dalal, A.B., Al-Kindy, A., Liebelt, J., Mowat, D., Nakashima, M., Saitsu, H., Miyake, N., Matsumoto, N.
Published in Clinical genetics (01.06.2014)
Published in Clinical genetics (01.06.2014)
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Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease
Miyatake, S, Miyake, N, Touho, H, Nishimura-Tadaki, A, Kondo, Y, Okada, I, Tsurusaki, Y, Doi, H, Sakai, H, Saitsu, H, Shimojima, K, Yamamoto, T, Higurashi, M, Kawahara, N, Kawauchi, H, Nagasaka, K, Okamoto, N, Mori, T, Koyano, S, Kuroiwa, Y, Taguri, M, Morita, S, Matsubara, Y, Kure, S, Matsumoto, N
Published in Neurology (13.03.2012)
Published in Neurology (13.03.2012)
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Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation
Kodera, H., Ando, N., Yuasa, I., Wada, Y., Tsurusaki, Y., Nakashima, M., Miyake, N., Saitoh, S., Matsumoto, N., Saitsu, H.
Published in Clinical genetics (01.05.2015)
Published in Clinical genetics (01.05.2015)
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Journal Article
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations
Miyake, N., Tsurusaki, Y., Koshimizu, E., Okamoto, N., Kosho, T., Brown, N.J., Tan, T.Y., Yap, P.J.J., Suzumura, H., Tanaka, T., Nagai, T., Nakashima, M., Saitsu, H., Niikawa, N., Matsumoto, N.
Published in Clinical genetics (01.01.2016)
Published in Clinical genetics (01.01.2016)
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Journal Article
Detection of copy number variations in epilepsy using exome data
Tsuchida, N., Nakashima, M., Kato, M., Heyman, E., Inui, T., Haginoya, K., Watanabe, S., Chiyonobu, T., Morimoto, M., Ohta, M., Kumakura, A., Kubota, M., Kumagai, Y., Hamano, S.‐I., Lourenco, C.M., Yahaya, N.A., Ch'ng, G.‐S., Ngu, L.‐H., Fattal‐Valevski, A., Weisz Hubshman, M., Orenstein, N., Marom, D., Cohen, L., Goldberg‐Stern, H., Uchiyama, Y., Imagawa, E., Mizuguchi, T., Takata, A., Miyake, N., Nakajima, H., Saitsu, H., Miyatake, S., Matsumoto, N.
Published in Clinical genetics (01.03.2018)
Published in Clinical genetics (01.03.2018)
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Journal Article
A genome-wide DNA methylation signature for SETD1B-related syndrome
Krzyzewska, I M, Maas, S M, Henneman, P, Lip, K V D, Venema, A, Baranano, K, Chassevent, A, Aref-Eshghi, E, van Essen, A J, Fukuda, T, Ikeda, H, Jacquemont, M, Kim, H-G, Labalme, A, Lewis, S M E, Lesca, G, Madrigal, I, Mahida, S, Matsumoto, N, Rabionet, R, Rajcan-Separovic, E, Qiao, Y, Sadikovic, B, Saitsu, H, Sweetser, D A, Alders, M, Mannens, M M A M
Published in Clinical epigenetics (04.11.2019)
Published in Clinical epigenetics (04.11.2019)
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Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel
Kunii, M., Doi, H., Ishii, Y., Ohba, C., Tanaka, K., Tada, M., Fukai, R., Hashiguchi, S., Kishida, H., Ueda, N., Kudo, Y., Kugimoto, C., Nakano, T., Udaka, N., Miyatake, S., Miyake, N., Saitsu, H., Ito, Y., Takahashi, K., Nakamura, H., Tomita‐Katsumoto, A., Takeuchi, H., Koyano, S., Matsumoto, N., Tanaka, F.
Published in Clinical genetics (01.08.2018)
Published in Clinical genetics (01.08.2018)
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Journal Article
Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy
Tsuchida, N., Nakashima, M., Miyauchi, A., Yoshitomi, S., Kimizu, T., Ganesan, V., Teik, K.W., Ch'ng, G.‐S., Kato, M., Mizuguchi, T., Takata, A., Miyatake, S., Miyake, N., Osaka, H., Yamagata, T., Nakajima, H., Saitsu, H., Matsumoto, N.
Published in Clinical genetics (01.02.2018)
Published in Clinical genetics (01.02.2018)
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Journal Article
Characterization of SPATA5-related encephalopathy in early childhood
Kurata, H., Terashima, H., Nakashima, M., Okazaki, T., Matsumura, W., Ohno, K., Saito, Y., Maegaki, Y., Kubota, M., Nanba, E., Saitsu, H., Matsumoto, N., Kato, M.
Published in Clinical genetics (01.11.2016)
Published in Clinical genetics (01.11.2016)
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Journal Article
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy
Nakajima, J., Okamoto, N., Tohyama, J., Kato, M., Arai, H., Funahashi, O., Tsurusaki, Y., Nakashima, M., Kawashima, H., Saitsu, H., Matsumoto, N., Miyake, N.
Published in Clinical genetics (01.04.2015)
Published in Clinical genetics (01.04.2015)
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Journal Article
Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum
Yoshida, M., Nakashima, M., Okanishi, T., Kanai, S., Fujimoto, A., Itomi, K., Morimoto, M., Saitsu, H., Kato, M., Matsumoto, N., Chiyonobu, T.
Published in Clinical genetics (01.02.2018)
Published in Clinical genetics (01.02.2018)
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Journal Article
DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst
Zaha, K., Matsumoto, H., Itoh, M., Saitsu, H., Kato, K., Kato, M., Ogata, S., Murayama, K., Kishita, Y., Mizuno, Y., Kohda, M., Nishino, I., Ohtake, A., Okazaki, Y., Matsumoto, N., Nonoyama, S.
Published in Clinical genetics (01.11.2016)
Published in Clinical genetics (01.11.2016)
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Journal Article
Molecular genetic analysis of 30 families with Joubert syndrome
Suzuki, T., Miyake, N., Tsurusaki, Y., Okamoto, N., Alkindy, A., Inaba, A., Sato, M., Ito, S., Muramatsu, K., Kimura, S., Ieda, D., Saitoh, S., Hiyane, M., Suzumura, H., Yagyu, K., Shiraishi, H., Nakajima, M., Fueki, N., Habata, Y., Ueda, Y., Komatsu, Y., Yan, K., Shimoda, K., Shitara, Y., Mizuno, S., Ichinomiya, K., Sameshima, K., Tsuyusaki, Y., Kurosawa, K., Sakai, Y., Haginoya, K., Kobayashi, Y., Yoshizawa, C., Hisano, M., Nakashima, M., Saitsu, H., Takeda, S., Matsumoto, N.
Published in Clinical genetics (01.12.2016)
Published in Clinical genetics (01.12.2016)
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Journal Article
Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy
Miyatake, S., Tada, H., Moriya, S., Takanashi, J., Hirano, Y., Hayashi, M., Oya, Y., Nakashima, M., Tsurusaki, Y., Miyake, N., Matsumoto, N., Saitsu, H.
Published in Clinical genetics (01.04.2015)
Published in Clinical genetics (01.04.2015)
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Journal Article
Paternal mosaicism of an STXBP1 mutation in OS
Saitsu, H, Hoshino, H, Kato, M, Nishiyama, K, Okada, I, Yoneda, Y, Tsurusaki, Y, Doi, H, Miyake, N, Kubota, M, Hayasaka, K, Matsumoto, N
Published in Clinical genetics (01.11.2011)
Published in Clinical genetics (01.11.2011)
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Journal Article
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH
Nakamura, K., Kato, M., Tohyama, J., Shiohama, T., Hayasaka, K., Nishiyama, K., Kodera, H., Nakashima, M., Tsurusaki, Y., Miyake, N., Matsumoto, N., Saitsu, H.
Published in Clinical genetics (01.04.2014)
Published in Clinical genetics (01.04.2014)
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Journal Article
Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss
Tsurusaki, Y., Yonezawa, R., Furuya, M., Nishimura, G., Pooh, R.K., Nakashima, M., Saitsu, H., Miyake, N., Saito, S., Matsumoto, N.
Published in Clinical genetics (01.06.2014)
Published in Clinical genetics (01.06.2014)
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Journal Article
Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing
Tsurusaki, Yoshinori, Osaka, Hitoshi, Hamanoue, Haruka, Shimbo, Hiroko, Tsuji, Megumi, Doi, Hiroshi, Saitsu, Hirotomo, Matsumoto, Naomichi, Miyake, Noriko
Published in Journal of medical genetics (01.09.2011)
Published in Journal of medical genetics (01.09.2011)
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