Jun Yoshimura

Tokyo, Japan

Last Updated: 09/26/2026

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Found 43 publications

Comprehensive genomic analysis of five kindreds with multiple childhood leukemias: importance of individual functional analysis for rare ETV6 germline variants.

Comprehensive genomic analysis of five kindreds with multiple childhood leukemias: importance of individual functional analysis for rare ETV6 germline variants.

Journal: Human cell
Published: May 12, 2026

Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.

Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.

Journal: medRxiv : the preprint server for health sciences
Published: July 10, 2023

Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.

Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.

Journal: Angiogenesis
Published: May 02, 2022

Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis.

Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis.

Journal: Annals of neurology
Published: October 16, 2021

Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing.

Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing.

Journal: Scientific reports
Published: July 08, 2021

Hamster PIWI proteins bind to piRNAs with stage-specific size variations during oocyte maturation.

Hamster PIWI proteins bind to piRNAs with stage-specific size variations during oocyte maturation.

Journal: Nucleic acids research
Published: December 15, 2020

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.

Journal: Journal of human genetics
Published: July 28, 2020

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.

Journal: Neurogenetics
Published: June 06, 2020

Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.

Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.

Journal: Diabetes research and clinical practice
Published: May 25, 2020

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.

Journal: Journal of medical genetics
Published: March 04, 2020

Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.

Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.

Journal: Human mutation
Published: January 07, 2020

Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.

Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.

Journal: Scientific reports
Published: December 19, 2019
Showing 1-12 of 43

Last Updated: 09/26/2026