Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

द्वारा Hamdan, Fadi F, Saitsu, Hirotomo, Nishiyama, Kiyomi, Gauthier, Julie, Dobrzeniecka, Sylvia, Spiegelman, Dan, Lacaille, Jean-Claude, Décarie, Jean-Claude, Matsumoto, Naomichi, Rouleau, Guy A, Michaud, Jacques L
प्रकाशित 2012

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing

द्वारा Kondo, Yukiko, Saitsu, Hirotomo, Miyamoto, Toshinobu, Lee, Byung Joo, Nishiyama, Kiyomi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Kim, Jeong Hun, Yu, Young Suk, Matsumoto, Naomichi
प्रकाशित 2013

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

द्वारा Saitsu, Hirotomo, Osaka, Hitoshi, Sasaki, Masayuki, Takanashi, Jun-ichi, Hamada, Keisuke, Yamashita, Akio, Shibayama, Hidehiro, Shiina, Masaaki, Kondo, Yukiko, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Miyake, Noriko, Doi, Hiroshi, Ogata, Kazuhiro, Inoue, Ken, Matsumoto, Naomichi
प्रकाशित 2011

De Novo Mutations in GNAO1, Encoding a Gα(o) Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

द्वारा Nakamura, Kazuyuki, Kodera, Hirofumi, Akita, Tenpei, Shiina, Masaaki, Kato, Mitsuhiro, Hoshino, Hideki, Terashima, Hiroshi, Osaka, Hitoshi, Nakamura, Shinichi, Tohyama, Jun, Kumada, Tatsuro, Furukawa, Tomonori, Iwata, Satomi, Shiihara, Takashi, Kubota, Masaya, Miyatake, Satoko, Koshimizu, Eriko, Nishiyama, Kiyomi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Hayasaka, Kiyoshi, Ogata, Kazuhiro, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo
प्रकाशित 2013

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

द्वारा Saitsu, Hirotomo, Tohyama, Jun, Kumada, Tatsuro, Egawa, Kiyoshi, Hamada, Keisuke, Okada, Ippei, Mizuguchi, Takeshi, Osaka, Hitoshi, Miyata, Rie, Furukawa, Tomonori, Haginoya, Kazuhiro, Hoshino, Hideki, Goto, Tomohide, Hachiya, Yasuo, Yamagata, Takanori, Saitoh, Shinji, Nagai, Toshiro, Nishiyama, Kiyomi, Nishimura, Akira, Miyake, Noriko, Komada, Masayuki, Hayashi, Kenji, Hirai, Syu-ichi, Ogata, Kazuhiro, Kato, Mitsuhiro, Fukuda, Atsuo, Matsumoto, Naomichi
प्रकाशित 2010

SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

द्वारा Okada, Ippei, Hamanoue, Haruka, Terada, Koji, Tohma, Takaya, Megarbane, Andre, Chouery, Eliane, Abou-Ghoch, Joelle, Jalkh, Nadine, Cogulu, Ozgur, Ozkinay, Ferda, Horie, Kyoji, Takeda, Junji, Furuichi, Tatsuya, Ikegawa, Shiro, Nishiyama, Kiyomi, Miyatake, Satoko, Nishimura, Akira, Mizuguchi, Takeshi, Niikawa, Norio, Hirahara, Fumiki, Kaname, Tadashi, Yoshiura, Koh-ichiro, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Furukawa, Takahisa, Matsumoto, Naomichi, Saitsu, Hirotomo
प्रकाशित 2011