Naomichi Matsumoto

Professor and Chair

Yokohama City University Graduate School of Medicine

Japan

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About

Naomichi Matsumoto is a Professor and Chair at Yokohama City University Graduate School of Medicine in Japan. His research focuses on genetic disorders, neurodegeneration, and pediatric epilepsy, as highlighted in recent publications, including studies on ReNU Syndrome and the implications of novel genetic variants. He actively contributes to advancing understanding in fields such as epidermolysis bullosa and DNM1 encephalopathy.

Articles (20)

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2025

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2022

Collaborators (15)

Jun Kido

Kumamoto University

JAPAN

Naomichi Matsumoto

Research Interests

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Articles (20)

A Clinical Study of Nine Patients With ReNU Syndrome

Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling

Comment on: Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome: reply

Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant

A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis

Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa

Vantagens do sequenciamento completo do exoma sobre o imunomapeamento em 67 pacientes brasileiros com epidermólise bolhosa

Abnormal axonal development and severe epileptic phenotype in Dynamin‐1 (DNM1) encephalopathy

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications

Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome

Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)

NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy

Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease

Clinical images: VEXAS syndrome presenting as treatment‐refractory polyarteritis nodosa

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Obituary Norio Niikawa, M.D., Ph.D., 1942–2022

Collaborators (15)

Jun Kido

Hyun Jung Lee

Tomoki Kosho

Takeshi Mizuguchi

Atsushi Fujita

Chiaki Sato

Fumiyoshi Fujishima

Naomi Tsuchida

Na-Yeon Jung

Mitsuhiro Kato

Guido Rubboli

Yuri Uchiyama

Stephan Sanders

Kazuharu Misawa

Eriko Koshimizu

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