Hirotomo Saitsu

Overview

Best Publications

• De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

  Hirotomo Saitsu;Mitsuhiro Kato;Takeshi Mizuguchi;Keisuke Hamada

  619
  Citations

• Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

  Yoshinori Tsurusaki;Nobuhiko Okamoto;Hirofumi Ohashi;Tomoki Kosho

  542
  Citations

• De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

  Hirotomo Saitsu;Taki Nishimura;Taki Nishimura;Kazuhiro Muramatsu;Hirofumi Kodera

  507
  Citations

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

  Yuri Uchiyama;Mitsuko Nakashima;Satoshi Watanabe;Masakazu Miyajima

  505
  Citations

• Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.

  S. Miyatake;N. Miyake;H. Touho;A. Nishimura-Tadaki

  325
  Citations

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

  Koichiro Higasa;Noriko Miyake;Jun Yoshimura;Kohji Okamura

  281
  Citations

• Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

  Mitsuhiro Kato;Takanori Yamagata;Masaya Kubota;Hiroshi Arai

  262
  Citations

• De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

  Kazuyuki Nakamura;Kazuyuki Nakamura;Hirofumi Kodera;Tenpei Akita;Masaaki Shiina

  252
  Citations

• KDM6A point mutations cause Kabuki syndrome.

  Noriko Miyake;Seiji Mizuno;Nobuhiko Okamoto;Hirofumi Ohashi

  242
  Citations

• Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb

  Mitsuko Nakashima;Hirotomo Saitsu;Nobuyuki Takei;Jun Tohyama

  220
  Citations

• Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

  Gianina Ravenscroft;Satoko Miyatake;Vilma Lotta Lehtokari;Emily J. Todd

  218
  Citations

• Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

  Kazuyuki Nakamura;Mitsuhiro Kato;Hitoshi Osaka;Sumimasa Yamashita

  218
  Citations

• MLL2 and KDM6A mutations in patients with Kabuki syndrome.

  Noriko Miyake;Eriko Koshimizu;Nobuhiko Okamoto;Seiji Mizuno

  210
  Citations

• Hedgehog signaling is involved in development of the neocortex.

  Munekazu Komada;Hirotomo Saitsu;Hirotomo Saitsu;Masato Kinboshi;Takashi Miura

  197
  Citations

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

  Hirotomo Saitsu;Hitoshi Osaka;Masayuki Sasaki;Jun-ichi Takanashi

  178
  Citations

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

  Hirotomo Saitsu;Jun Tohyama;Tatsuro Kumada;Kiyoshi Egawa

  176
  Citations

• Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

  Noriko Miyake;Tomoki Kosho;Shuji Mizumoto;Tatsuya Furuichi

  174
  Citations

• Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

  Yuriko Yoneda;Kazuhiro Haginoya;Mitsuhiro Kato;Hitoshi Osaka

  173
  Citations

• Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

  Atsushi Takata;Noriko Miyake;Yoshinori Tsurusaki;Ryoko Fukai

  165
  Citations

• STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern

  Hirotomo Saitsu;Mitsuhiro Kato;Ippei Okada;Kenji E. Orii

  164
  Citations