Toshiyuki Yamamoto

University Name

Japan

Research Interests

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Articles (11)

Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing

Year:

2025

Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures

Year:

2024

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX

Year:

2024

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait

Year:

2024

Identification of Prostaglandin I 2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis

Year:

2024

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features

Year:

2023

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis

Year:

2022

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

Year:

2021

Clinical spectrum of individuals with de novo EBF3 variants or deletions

Year:

2021

Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders

Year:

2021

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

Year:

2021

Collaborators (3)

Hiroyuki Akagawa

Associate Professor

Tokyo Women's Medical University

JAPAN

Hitoshi Kanno

Professor

Tokyo Women's Medical University

JAPAN

Ayako Chida-Nagai

Appointed Assistant Professor

Hokkaido University

JAPAN

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