Naomichi Matsumoto

Researcher Next ID · RN-035805

Researcher · Biochemistry, Genetics and Molecular Biology

Yokohama, Japan

Accepting doctoral researchersFunding unknown

Research interests

Biochemistry, Genetics and Molecular Biology

Neuroscience

Genomics and Rare Diseases

Genetics and Neurodevelopmental Disorders

Genomic variations and chromosomal abnormalities

RNA regulation and disease

Genetic Neurodegenerative Diseases

Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis
Annals of the Rheumatic Diseases · 2021 · https://doi.org/10.1136/annrheumdis-2021-220089
Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome
Scientific Reports · 2017 · https://doi.org/10.1038/srep39897
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Brain · 2017 · https://doi.org/10.1093/brain/awx195
Human genetic variation database, a reference database of genetic variations in the Japanese population
Journal of Human Genetics · 2016 · https://doi.org/10.1038/jhg.2016.12
MLL2 and KDM6A mutations in patients with Kabuki syndrome
American Journal of Medical Genetics Part A · 2013 · https://doi.org/10.1002/ajmg.a.36072
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease
Neurology · 2012 · https://doi.org/10.1212/wnl.0b013e318249f71f
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Nature Genetics · 2006 · https://doi.org/10.1038/ng1749

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