Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci

by Atsushi Takata, Naomichi Matsumoto, Tadafumi Kato
Published 2017-02-01

Peran Mutasi Gen CRELD1 pada Defek Septum Ventrikel dan Hubungannya dengan Manifestasi Klinis

by Sri Endah Rahayuningsih, Haruka Hamanoue, Naomichi Matsumoto
Published 2016-11-01

Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population

by Satomi Mitsuhashi, Martin C. Frith, Naomichi Matsumoto
Published 2021-01-01

A pipeline for complete characterization of complex germline rearrangements from long DNA reads

by Satomi Mitsuhashi, Sachiko Ohori, Kazutaka Katoh, Martin C. Frith, Naomichi Matsumoto
Published 2020-07-01

Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease.

by Yuji Nakamura, Kohji Kato, Naomi Tsuchida, Naomichi Matsumoto, Yoshiyuki Takahashi, Shinji Saitoh
Published 2019-01-01

Intellectual disability and microcephaly associated with a novel CHAMP1 mutation

by Yuta Asakura, Hitoshi Osaka, Hiromi Aoi, Takeshi Mizuguchi, Naomichi Matsumoto, Takanori Yamagata
Published 2021-08-01

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

by Yuichi Akaba, Satoru Takahashi, Ryo Takeguchi, Ryosuke Tanaka, Shin Nabatame, Hirotomo Saitsu, Naomichi Matsumoto
Published 2021-03-01

West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother

by Pin Fee Chong, Masaru Matsukura, Kaoru Fukui, Yoriko Watanabe, Yoriko Watanabe, Naomichi Matsumoto, Ryutaro Kira
Published 2019-12-01

Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder.

by Eriko Koshimizu, Satoko Miyatake, Nobuhiko Okamoto, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
Published 2013-01-01

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy

by Masahide Fukada, Keitaro Yamada, Shima Eda, Ken Inoue, Chihiro Ohba, Naomichi Matsumoto, Hirotomo Saitsu, Atsuo Nakayama
Published 2019-07-01

Erratum to: Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations

by Jiro Kin, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari Kaneko
Published 2017-08-01

Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations

by Jiro Kino, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari Kaneko
Published 2017-07-01

Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant

by Tetsuya Okazaki, Hiroyuki Yamada, Kaori Matsuura, Noriko Kasagi, Noriko Miyake, Naomichi Matsumoto, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki
Published 2021-07-01

A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30

by Kimiko Ueda, Atsushi Araki, Atsushi Fujita, Naomichi Matsumoto, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Nobuhiko Okamoto
Published 2021-06-01

Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant

by Masataka Fukuoka, Shin Okazaki, Kiyohiro Kim, Megumi Nukui, Takeshi Inoue, Ichiro Kuki, Hisashi Kawawaki, Mitsuko Nakashima, Naomichi Matsumoto
Published 2021-03-01

Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation

by Kenichi Mishima, Atsushi Fujita, Seiji Mizuno, Masaki Matsushita, Tadashi Nagata, Yasunari Kamiya, Noriko Miyake, Naomichi Matsumoto, Shiro Imagama, Hiroshi Kitoh
Published 2020-12-01

Cerebrovascular diseases in two patients with entire NSD1 deletion

by Toshiyuki Itai, Satoko Miyatake, Taku Hatano, Nobutaka Hattori, Atsuko Ohno, Yusuke Aoki, Kazuya Itomi, Harushi Mori, Hirotomo Saitsu, Naomichi Matsumoto
Published 2021-05-01

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

by Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto
Published 2019-03-01

Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature

by Azusa Ikeda, Ayako Yamamoto, Kazushi Ichikawa, Yu Tsuyusaki, Megumi Tsuji, Mizue Iai, Yumi Enomoto, Hiroaki Murakami, Kenji Kurosawa, Satoko Miyatake, Naomichi Matsumoto, Tomohide Goto
Published 2020-01-01

Does Atrial-Pacing from Different Intra-Atrial Sites for Atrial Fibrillation Effect Pulmonary Venous Pressure?

by Chiharu Mitsutake, MD, Soichi Muraoka, MD, Hideo Takashima, MD, Hideko Nakashima, MD, Tomoo Yasuda, MD, Naomichi Matsumoto, MD, Koichiro Kumagai, MD, Keijiro Saku, MD
Published 2010-01-01