Eriko Koshimizu

Yokohama City University Graduate School of Medicine

Japan

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Articles (14)

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2025

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2025

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2025

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2025

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2024

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2024

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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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2022

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2022

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2022

Collaborators (12)

Yoshihiro Watanabe

Yokohama City University Medical Center

JAPAN

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Hiroshi Doi

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

Yokohama National University

JAPAN

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Takeshi Mizuguchi

Associate Professor

Yokohama National University

JAPAN

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Atsushi Fujita

Yokohama National University

JAPAN

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Kiyoshi Hayasaka

Emeritus and visiting Professor,

Yamagata University Faculty of Medicine

JAPAN

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Naomi Tsuchida

Yokohama City University Medical Center

JAPAN

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Jun-ichi Takanashi

Prof.

Tokyo Women’s Medical University Yachiyo Medical Center

JAPAN

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Mitsuhiro Kato

Professor

Showa University

JAPAN

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Yuri Uchiyama

Assistant professor

Yokohama City University Medical Center

JAPAN

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Hitoshi Osaka

Jichi Medical University

JAPAN

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Naomichi Matsumoto

Professor and Chair

Yokohama City University Graduate School of Medicine

JAPAN

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Kazuharu Misawa

Associate Professor

Yokohama National University

JAPAN

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Eriko Koshimizu

Research Interests

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Articles (14)

Hemizygous SMARCA1 variants cause X-linked intellectual disability

Mosaic deletions detected by genome sequencing in two families

Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2

Triple mosaic variants of PURA in a patient with multiple congenital anomalies

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

A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

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

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

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

Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8

A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.

Distal 2q duplication in a patient with intellectual disability

Collaborators (12)

Yoshihiro Watanabe

Hiroshi Doi

Takeshi Mizuguchi

Atsushi Fujita

Kiyoshi Hayasaka

Naomi Tsuchida

Jun-ichi Takanashi

Mitsuhiro Kato

Yuri Uchiyama

Hitoshi Osaka

Naomichi Matsumoto

Kazuharu Misawa

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