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

Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome

by Miyoshi, Yoko, Taniike, Masako, Mohri, Ikuko, Mushiake, Sotaro, Nakajima, Shigeo, Matsumoto, Naomichi, Ozono, Keiichi
Published 2004

‘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

Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)

by Yahikozawa, Hiroyuki, Yoshida, Kunihiro, Sato, Shunichi, Hanyu, Norinao, Doi, Hiroshi, Miyatake, Satoko, Matsumoto, Naomichi
Published 2015

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

Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder

by Imai, Noboru, Miyake, Noriko, Saito, Yoshiaki, Kobayashi, Emiko, Ikawa, Masako, Manaka, Shinya, Shiina, Masaaki, Ogata, Kazuhiro, Matsumoto, Naomichi
Published 2015

Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation

by Čulić, Vida, Miyake, Noriko, Janković, Sunčana, Petrović, Davor, Šimunović, Marko, Đapić, Tomislav, Shiina, Masaaki, Ogata, Kazuhiro, Matsumoto, Naomichi
Published 2016

Panventriculomegaly with a wide foramen of Magendie and large cisterna magna: clinical, radiological, and genetic analysis

by Kageyama, Hiroshi, Ogino, Ikuko, Shimoji, Kazuaki, Nakajima, Madoka, Fukai, Ryoko, Miyake, Noriko, Nishiyama, Kenichi, Matsumoto, Naomichi, Arai, Hajime, Miyajima, Masakazu
Published 2015

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

Diagnosis of pancreatic lesions collected by endoscopic ultrasound-guided fine-needle aspiration using next-generation sequencing

by Kameta, Eri, Sugimori, Kazuya, Kaneko, Takashi, Ishii, Tomohiro, Miwa, Haruo, Sato, Takeshi, Ishii, Yasuaki, Sue, Soichiro, Sasaki, Tomohiko, Yamashita, Yuki, Shibata, Wataru, Matsumoto, Naomichi, Maeda, Shin
Published 2016

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

An Aberrant Splice Acceptor Site Due to a Novel Intronic Nucleotide Substitution in MSX1 Gene Is the Cause of Congenital Tooth Agenesis in a Japanese Family

by Tatematsu, Tadashi, Kimura, Masashi, Nakashima, Mitsuko, Machida, Junichiro, Yamaguchi, Seishi, Shibata, Akio, Goto, Hiroki, Nakayama, Atsuo, Higashi, Yujiro, Miyachi, Hitoshi, Shimozato, Kazuo, Matsumoto, Naomichi, Tokita, Yoshihito
Published 2015

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

Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals

by Liu, Xiaoxi, Kawashima, Minae, Miyagawa, Taku, Otowa, Takeshi, Latt, Khun Zaw, Thiri, Myo, Nishida, Hisami, Sugiyama, Toshiro, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Mabuchi, Akihiko, Tokunaga, Katsushi, Sasaki, Tsukasa
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

Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder

by Hashimoto, Ryota, Nakazawa, Takanobu, Tsurusaki, Yoshinori, Yasuda, Yuka, Nagayasu, Kazuki, Matsumura, Kensuke, Kawashima, Hitoshi, Yamamori, Hidenaga, Fujimoto, Michiko, Ohi, Kazutaka, Umeda-Yano, Satomi, Fukunaga, Masaki, Fujino, Haruo, Kasai, Atsushi, Hayata-Takano, Atsuko, Shintani, Norihito, Takeda, Masatoshi, Matsumoto, Naomichi, Hashimoto, Hitoshi
Published 2016