Yuri Uchiyama at Yokohama City University Hospital - Research Interests, Publications & Academic Profile

Yuri Uchiyama

Assistant professor

Yokohama City University Medical Center

Japan

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Research Interests

Biostatistics

30%

Neurology

80%

Medical Science

100%

Rare Disease

80%

Birth Defect

50%

Tuberous Sclerosis

30%

Genomic

30%

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先天性血小板減少症・止血凝固異常症の遺伝的疾患病態の解明

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Articles15

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

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2024

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

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2024

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

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2024

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability

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2024

Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders

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2024

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

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2023

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

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2023

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

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2023

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

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2023

Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder

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2023

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

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2022

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

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2022

Distal 2q duplication in a patient with intellectual disability

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2022

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

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2022

A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face

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Year:

2022

Collaborators10

Yoshihiro Watanabe

Yokohama City University Medical Center

JAPAN

Mitsumasa Kishimoto

JAPAN

Takeshi Mizuguchi

Associate Professor

Yokohama National University

JAPAN

Ken Nagahata

Sapporo Medical University

JAPAN

Noriyuki Takahashi

Designated Lecturer

Nagoya University Graduate School of Medicine

JAPAN

Mitsuhiro Kato

Professor

Showa University

JAPAN

Hitoshi Osaka

Jichi Medical University

JAPAN

Naomichi Matsumoto

Professor and Chair

Yokohama City University Graduate School of Medicine

JAPAN

Kazuharu Misawa

Associate Professor

Yokohama National University

JAPAN

Eriko Koshimizu

Yokohama City University Graduate School of Medicine

JAPAN

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