Yoichi Matsubara

Overview

Best Publications

• Germline mutations in HRAS proto-oncogene cause Costello syndrome

  Yoko Aoki;Tetsuya Niihori;Hiroshi Kawame;Kenji Kurosawa

  742
  Citations

• A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

  Fumiaki Kamada;Yoko Aoki;Ayumi Narisawa;Yu Abe

  734
  Citations

• Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

  Tetsuya Niihori;Yoko Aoki;Yoko Narumi;Giovanni Neri

  671
  Citations

• The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

  Yoko Aoki;Tetsuya Niihori;Yoko Narumi;Shigeo Kure

  459
  Citations

• Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

  Shigeo Kure;Dian Chang Hou;Toshihiro Ohura;Hiroko Iwamoto

  436
  Citations

• Recent advances in RASopathies.

  Yoko Aoki;Tetsuya Niihori;Shin Ichi Inoue;Yoichi Matsubara

  385
  Citations

• Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

  Yoko Aoki;Tetsuya Niihori;Toshihiro Banjo;Nobuhiko Okamoto

  348
  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

• Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

  Caroline Nava;Nadine Hanna;Caroline Michot;Sabrina Pereira

  295
  Citations

• Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

  Takayuki Kudo;Katsuhisa Ikeda;Shigeo Kure;Yoichi Matsubara

  287
  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

• ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype

  Shinsuke Hirabayashi;Kentaro Ohki;Kazuhiko Nakabayashi;Hitoshi Ichikawa

  242
  Citations

• Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness

  Takayuki Kudo;Shigeo Kure;Katsuhisa Ikeda;An Ping Xia

  220
  Citations

• HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

  Karen W. Gripp;Angela E. Lin;Deborah L. Stabley;Linda Nicholson

  219
  Citations

• MLL2 and KDM6A mutations in patients with Kabuki syndrome.

  Noriko Miyake;Eriko Koshimizu;Nobuhiko Okamoto;Seiji Mizuno

  210
  Citations

• Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

  Yoichi Suzuki;Yoko Aoki;Yoshinori Ishida;Yasushi Chiba

  167
  Citations

• Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

  Tetsuya Niihori;Yoko Aoki;Hirofumi Ohashi;Kenji Kurosawa

  160
  Citations

• Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.

  Y. Matsubara;K. Narisawa;Y. Ye-Qi;K. Tada

  157
  Citations

• Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

  Tomoko Kobayashi;Yoko Aoki;Tetsuya Niihori;Hélène Cavé

  149
  Citations

• DECREASED MID PREGNANCY FALL IN HOME BLOOD PRESSURE IN RELATION TO INSULIN RESISTANCE: THE BOSHI STUDY: 2A.01

  M Kawaguchi;H Metoki;T Ohkubo;Y Sato

  0
  Citations