Yumi Kabata-Yamaguchi

Sendai, Japan

Last Updated: 09/26/2026

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Found 35 publications

Population-Based Identification of Clonal Hematopoiesis Using Peripheral Blood Whole-Genome Sequencing in Japan.

Population-Based Identification of Clonal Hematopoiesis Using Peripheral Blood Whole-Genome Sequencing in Japan.

Journal: Cancer science
Published: September 29, 2025

Homozygous SGCB splice-site variant causes isolated dilated cardiomyopathy through sarcoglycan complex destabilization in East Asians.

Homozygous SGCB splice-site variant causes isolated dilated cardiomyopathy through sarcoglycan complex destabilization in East Asians.

Journal: The Journal of clinical investigation
Published: August 05, 2025

Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan.

Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan.

Journal: Journal of human genetics
Published: September 14, 2024

Progress Report of the Tohoku Medical Megabank Community-based Cohort Study: Study Profile of the Repeated Center-based Survey During Second Period in Miyagi Prefecture.

Progress Report of the Tohoku Medical Megabank Community-based Cohort Study: Study Profile of the Repeated Center-based Survey During Second Period in Miyagi Prefecture.

Journal: Journal of epidemiology
Published: February 25, 2024

Loss of CAPS2/Cadps2 leads to exocrine pancreatic cell injury and intracellular accumulation of secretory granules in mice.

Loss of CAPS2/Cadps2 leads to exocrine pancreatic cell injury and intracellular accumulation of secretory granules in mice.

Journal: Frontiers in molecular biosciences
Published: September 09, 2022

Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants.

Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants.

Journal: Breast cancer (Tokyo, Japan)
Published: May 04, 2022

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.

Journal: Human genome variation
Published: December 23, 2021

A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants.

A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants.

Journal: JMA journal
Published: August 18, 2021

The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project.

The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project.

Journal: Journal of human genetics
Published: February 16, 2021

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Journal: Human genome variation
Published: July 22, 2020

Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).

Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).

Journal: PloS one
Published: July 14, 2020

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome.

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome.

Journal: Human genome variation
Published: March 20, 2019
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Last Updated: 09/26/2026