Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder

by Koshimizu, Eriko, Miyatake, Satoko, Okamoto, Nobuhiko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi
Published 2013

‘Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing

by Yoshida, Kunihiro, Miyatake, Satoko, Kinoshita, Tomomi, Doi, Hiroshi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi
Published 2014

The first genetically confirmed Japanese patient with mucolipidosis type IV

by Saijo, Harumi, Hayashi, Masaharu, Ezoe, Takanori, Ohba, Chihiro, Saitsu, Hirotomo, Kurata, Kiyoko, Matsumoto, Naomichi
Published 2016

A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)

by Ozawa, Tadashi, Koide, Reiji, Nakata, Yasuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi, Takahashi, Kazushi, Nakano, Imaharu, Orimo, Satoshi
Published 2014

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

by 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
Published 2013

Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

by Saitsu, Hirotomo, Sonoda, Masaki, Higashijima, Takefumi, Shirozu, Hiroshi, Masuda, Hiroshi, Tohyama, Jun, Kato, Mitsuhiro, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Kameyama, Shigeki, Matsumoto, Naomichi
Published 2016

Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

by Uchiyama, Yuri, Nakashima, Mitsuko, Watanabe, Satoshi, Miyajima, Masakazu, Taguri, Masataka, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Mishima, Hiroyuki, Kinoshita, Akira, Arai, Hajime, Yoshiura, Ko–ichiro, Matsumoto, Naomichi
Published 2016

A novel PITX2 mutation causing iris hypoplasia

by Kimura, Masashi, Tokita, Yoshihito, Machida, Junichiro, Shibata, Akio, Tatematsu, Tadashi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Miyachi, Hitoshi, Shimozato, Kazuo, Matsumoto, Naomichi, Nakashima, Mitsuko
Published 2014

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

by Imagawa, Eri, Fukai, Ryoko, Behnam, Mahdiyeh, Goyal, Manisha, Nouri, Narges, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Salehi, Mansour, Kapoor, Seema, Tanaka, Fumiaki, Miyake, Noriko, Matsumoto, Naomichi
Published 2015

DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis

by Kubo, Naoki, Toh, Hidehiro, Shirane, Kenjiro, Shirakawa, Takayuki, Kobayashi, Hisato, Sato, Tetsuya, Sone, Hidetoshi, Sato, Yasuyuki, Tomizawa, Shin-ichi, Tsurusaki, Yoshinori, Shibata, Hiroki, Saitsu, Hirotomo, Suzuki, Yutaka, Matsumoto, Naomichi, Suyama, Mikita, Kono, Tomohiro, Ohbo, Kazuyuki, Sasaki, Hiroyuki
Published 2015

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

by Kanemasa, Hikaru, Fukai, Ryoko, Sakai, Yasunari, Torio, Michiko, Miyake, Noriko, Lee, Sooyoung, Ono, Hiroaki, Akamine, Satoshi, Nishiyama, Kei, Sanefuji, Masafumi, Ishizaki, Yoshito, Torisu, Hiroyuki, Saitsu, Hirotomo, Matsumoto, Naomichi, Hara, Toshiro
Published 2016

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

by Saitsu, Hirotomo, Akita, Tenpei, Tohyama, Jun, Goldberg-Stern, Hadassa, Kobayashi, Yu, Cohen, Roni, Kato, Mitsuhiro, Ohba, Chihiro, Miyatake, Satoko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi
Published 2015

Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series

by Yasuda, Yuka, Hashimoto, Ryota, Fukai, Ryoko, Okamoto, Nobuhiko, Hiraki, Yoko, Yamamori, Hidenaga, Fujimoto, Michiko, Ohi, Kazutaka, Taniike, Masako, Mohri, Ikuko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Matsumoto, Naomichi, Miyake, Noriko, Takeda, Masatoshi
Published 2014

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

by Saitsu, Hirotomo, Watanabe, Miho, Akita, Tenpei, Ohba, Chihiro, Sugai, Kenji, Ong, Winnie Peitee, Shiraishi, Hideaki, Yuasa, Shota, Matsumoto, Hiroshi, Beng, Khoo Teik, Saitoh, Shinji, Miyatake, Satoko, Nakashima, Mitsuko, Miyake, Noriko, Kato, Mitsuhiro, Fukuda, Atsuo, Matsumoto, Naomichi
Published 2016

Human genetic variation database, a reference database of genetic variations in the Japanese population

by Higasa, Koichiro, Miyake, Noriko, Yoshimura, Jun, Okamura, Kohji, Niihori, Tetsuya, Saitsu, Hirotomo, Doi, Koichiro, Shimizu, Masakazu, Nakabayashi, Kazuhiko, Aoki, Yoko, Tsurusaki, Yoshinori, Morishita, Shinichi, Kawaguchi, Takahisa, Migita, Osuke, Nakayama, Keiko, Nakashima, Mitsuko, Mitsui, Jun, Narahara, Maiko, Hayashi, Keiko, Funayama, Ryo, Yamaguchi, Daisuke, Ishiura, Hiroyuki, Ko, Wen-Ya, Hata, Kenichiro, Nagashima, Takeshi, Yamada, Ryo, Matsubara, Yoichi, Umezawa, Akihiro, Tsuji, Shoji, Matsumoto, Naomichi, Matsuda, Fumihiko
Published 2016