Noriko Miyake

Noriko Miyake publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Noriko Miyake sits on this spectrum.

Noriko Miyake D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Noriko Miyake sits on this spectrum.

Overview

Best Publications

• 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

• SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

  Satoshi Narumi;Naoko Amano;Tomohiro Ishii;Noriyuki Katsumata

  306
  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

• Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation

  Daisuke Kurotaki;Naoki Osato;Akira Nishiyama;Michio Yamamoto

  245
  Citations

• KDM6A point mutations cause Kabuki syndrome.

  Noriko Miyake;Seiji Mizuno;Nobuhiko Okamoto;Hirofumi Ohashi

  242
  Citations

• Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

  Mark C. Hannibal;Kati J. Buckingham;Sarah B. Ng;Jeffrey E. Ming

  235
  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

• Kabuki syndrome: international consensus diagnostic criteria.

  Margaret P. Adam;Siddharth Banka;Hans T. Bjornsson;Hans T. Bjornsson;Olaf Bodamer

  194
  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