Fumio Takada

Sagamihara, Japan

Last Updated: 09/26/2026

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Found 25 publications

Deep intronic variant in TYR causes OCA1A in Japanese families through pseudoexon activation.

Deep intronic variant in TYR causes OCA1A in Japanese families through pseudoexon activation.

Journal: Journal of dermatological science

Published: August 06, 2025

Current status and issues regarding genetic medicine after cancer gene panel testing in Japanese patients with metastatic prostate cancer.

Current status and issues regarding genetic medicine after cancer gene panel testing in Japanese patients with metastatic prostate cancer.

Journal: Molecular and clinical oncology

Published: May 24, 2025

Feingold syndrome with GJB2 variants.

Feingold syndrome with GJB2 variants.

Journal: Auris, nasus, larynx

Published: May 14, 2025

Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer.

Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer.

Journal: Journal of human genetics

Published: May 08, 2025

Novel OTOG Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort.

Novel OTOG Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort.

Journal: Genes

Published: December 06, 2024

Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.

Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.

Journal: Genetics in medicine open

Published: July 18, 2023

Clinical Outcome of Microsatellite Instability-High Patients Treated with Pembrolizumab and Genetic Counseling

Clinical Outcome of Microsatellite Instability-High Patients Treated with Pembrolizumab and Genetic Counseling

Journal: Gan to kagaku ryoho. Cancer & chemotherapy

Published: October 25, 2022

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.

Journal: Endocrine connections

Published: July 25, 2022

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.

Journal: Human genome variation

Published: May 20, 2021

A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.

A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.

Journal: Human genome variation

Published: May 20, 2021

Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles.

Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles.

Journal: BMC research notes

Published: May 06, 2021

In Situ Ductal Carcinoma with Hereditary Breast and Ovarian Cancer Syndrome in a Patient Who Received Contralateral Risk-Reducing Mastectomy-A Case Report

In Situ Ductal Carcinoma with Hereditary Breast and Ovarian Cancer Syndrome in a Patient Who Received Contralateral Risk-Reducing Mastectomy-A Case Report

Journal: Gan to kagaku ryoho. Cancer & chemotherapy

Published: November 01, 2020

Showing 1-12 of 25

Last Updated: 09/26/2026