Takeshi Mizuguchi

Associate Professor

Yokohama National University

Japan

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About

Takeshi Mizuguchi is an Associate Professor at Yokohama City University in Japan. His research primarily focuses on genetic disorders, including pontocerebellar hypoplasia, X-linked intellectual disability, and various other neurodevelopmental conditions. He has contributed to the field through his recent articles, which explore topics such as novel genetic variants and their implications in epilepsy and developmental delays.

Articles (13)

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2025

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2025

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2024

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2023

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2023

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2023

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2023

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2023

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2022

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2022

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2021

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2021

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2021

Collaborators (13)

Martin Frith

University of Tokyo

JAPAN

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Hyun Jung Lee

Clinical Professor

Pusan National University Yangsan Hospital

SOUTH KOREA

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Hiroshi Doi

Associate professor/M.D., Ph.D.

Yokohama National University

JAPAN

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Elsa Leitão

Universitätsklinikum Essen Institut für Humangenetik

GERMANY

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Atsushi Fujita

Yokohama National University

JAPAN

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Naomi Tsuchida

Yokohama City University Medical Center

JAPAN

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Yokohama City University Graduate School of Medicine

JAPAN

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Takeshi Mizuguchi

Research Interests

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About

Articles (13)

Hemizygous SMARCA1 variants cause X-linked intellectual disability

Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2

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

Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation

Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.

Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism

A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation

A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants

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

Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant

Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder

Collaborators (13)

Martin Frith

Hyun Jung Lee

Hiroshi Doi

Elsa Leitão

Atsushi Fujita

Naomi Tsuchida

Na-Yeon Jung

Jun-ichi Takanashi

Mitsuhiro Kato

Yuri Uchiyama

Naomichi Matsumoto

Kazuharu Misawa

Eriko Koshimizu

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