Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Takeshi Mizuguchi | Researchclopedia

Back to researchers

Takeshi Mizuguchi

Yokohama City University ORCID

230

Works

8,239

Citations

47

h-index

140

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Affiliations

University of Miyazaki2019–2021

Showa University2019–2020

The University of Sydney2021–2021

Concord Hospital2021–2021

National Institutes of Health2011–2017

Top Works

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi,Gwenaëlle Collod‐Béroud,et al.

2004613 citations

Genetic Neurodegenerative Diseases

RNA modifications and cancer

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

Hirotomo Saitsu,Mitsuhiro Kato,et al.

2008541 citations

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

Yoshinori Tsurusaki,Nobuhiko Okamoto,et al.

2012519 citations

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

Jun Sone,Satomi Mitsuhashi,et al.

2019500 citations

Cohesin-dependent globules and heterochromatin shape 3D genome architecture in S. pombe

Takeshi Mizuguchi,Geoffrey Fudenberg,et al.

2014305 citations

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Atsushi Takata,Noriko Miyake,et al.

2018183 citations

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

Satomi Mitsuhashi,Martin C. Frith,et al.

2019175 citations

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Hirotomo Saitsu,Jun Tohyama,et al.

2010152 citations

Molecular genetics of Marfan syndrome

Cathérine Boileau,Guillaume Jondeau,et al.

2005139 citations