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Naomichi Matsumoto

Naomichi Matsumoto

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Genetics and Molecular Biology
Japan
2024

D-Index & Metrics

Genetics

D-Index
96
Citations
47003
World Ranking
853
National Ranking
31

Medicine

D-Index
97
Citations
48061
World Ranking
9107
National Ranking
241

Research.com Recognitions

  • 2024 - Research.com Genetics and Molecular Biology in Japan Leader Award

Overview

Naomichi Matsumoto is affiliated with Yokohama City University in Japan. Their research spans multiple disciplines within biochemistry, genetics, molecular biology, and medicine. With an emphasis on molecular biology and genetics, they have contributed extensively to the understanding of neurodevelopmental and genetic disorders.

Matsumoto's work covers several subfields of study, including:

  • Molecular Biology
  • Genetics
  • Cellular and Molecular Neuroscience
  • Rheumatology
  • Neurology

The main research topics Matsumoto has engaged with are:

  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Genetic Neurodegenerative Diseases
  • RNA modifications and cancer
  • RNA regulation and disease
  • Mitochondrial Function and Pathology

Matsumoto has published in several scientific journals with a notable frequency in these venues:

  • Journal of Human Genetics (41 publications)
  • Brain and Development (25 publications)
  • Human Genome Variation (19 publications)
  • The American Journal of Human Genetics (9 publications)
  • Clinical Genetics (9 publications)

Frequent collaborators include:

  • Satoko Miyatake
  • Takeshi Mizuguchi
  • Yuri Uchiyama
  • Atsushi Fujita
  • Naomi Tsuchida

Representative recent papers authored or co-authored by Matsumoto are:

  • Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development, 2020, Neuron
  • Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis, 2021, Annals of the Rheumatic Diseases
  • SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation, 2020, Annals of Neurology
  • DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes, 2020, The American Journal of Human Genetics
  • Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome, 2020, Science Advances

Best Publications

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

    Sarah B. Ng;Abigail W. Bigham;Kati J. Buckingham;Mark C. Hannibal;Mark C. Hannibal

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Heterozygous TGFBR2 mutations in Marfan syndrome

    Takeshi Mizuguchi;Gwenaëlle Collod-Beroud;Takushi Akiyama;Marianne Abifadel

  • Haploinsufficiency of NSD1 causes Sotos syndrome

    Naohiro Kurotaki;Kiyoshi Imaizumi;Naoki Harada;Mitsuo Masuno

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

    Tetsuya Niihori;Yoko Aoki;Yoko Narumi;Giovanni Neri

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

    Hirotomo Saitsu;Mitsuhiro Kato;Takeshi Mizuguchi;Keisuke Hamada

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

    Yoshinori Tsurusaki;Nobuhiko Okamoto;Hirofumi Ohashi;Tomoki Kosho

  • 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

  • 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

  • Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.

    Jun Sone;Satomi Mitsuhashi;Atsushi Fujita;Takeshi Mizuguchi

  • Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements

    Sabrina Giglio;Karl W. Broman;Naomichi Matsumoto;Vladimiro Calvari

  • LIS1 and XLIS (DCX) Mutations Cause Most Classical Lissencephaly, but Different Patterns of Malformation

    Daniela T. Pilz;Naomichi Matsumoto;Sharon Minnerath;Patti Mills

  • 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

  • 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

  • Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

    Koki Yamada;Caroline Andrews;Wai Man Chan;Craig A. McKeown

  • Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

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

    Koichiro Higasa;Noriko Miyake;Jun Yoshimura;Kohji Okamura

  • Differences in the gyral pattern distinguish chromosome 17–linked and X-linked lissencephaly

    W. B. Dobyns;C. L. Truwit;M. E. Ross;N. Matsumoto

  • Kabuki make-up syndrome: A review

    Naomichi Matsumoto;Norio Niikawa

Frequent Co-Authors

Noriko Miyake
Noriko Miyake Yokohama City University
Hirotomo Saitsu
Hirotomo Saitsu Hamamatsu University
Yoshinori Tsurusaki
Yoshinori Tsurusaki Sagami Women's University
Mitsuhiro Kato
Mitsuhiro Kato Showa University
Norio Niikawa
Norio Niikawa Health Sciences University of Hokkaido
Nobuhiko Okamoto
Nobuhiko Okamoto Osaka University
Hirofumi Ohashi
Hirofumi Ohashi Saitama Children's Medical Center
Fumiaki Tanaka
Fumiaki Tanaka Yokohama City University
Yoshimitsu Fukushima
Yoshimitsu Fukushima Shinshu University

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