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

door 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
Gepubliceerd in 2012

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

door 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
Gepubliceerd in 2013

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

door 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
Gepubliceerd in 2011

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

door 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
Gepubliceerd in 2013

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

door 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
Gepubliceerd in 2010

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

door 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
Gepubliceerd in 2011