Tomoko Hirata

Yokohama, 2300045, Japan

Last Updated: 09/26/2026

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Found 9 publications

Isoform analysis of heterozygous putative splicing variants at the allele level using nanopore long-read sequencing.

Isoform analysis of heterozygous putative splicing variants at the allele level using nanopore long-read sequencing.

Journal: Scientific reports
Published: October 24, 2024

Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.

Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.

Journal: NPJ genomic medicine
Published: March 19, 2024

Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.

Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.

Journal: International journal of cardiology
Published: February 03, 2021

Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.

Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.

Journal: International journal of cardiology
Published: July 10, 2018

Barth Syndrome: Different Approaches to Diagnosis.

Barth Syndrome: Different Approaches to Diagnosis.

Journal: The Journal of pediatrics
Published: April 27, 2017

HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing.

HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing.

Journal: Human mutation
Published: April 19, 2017

Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies.

Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies.

Journal: Familial cancer
Published: February 04, 2016

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.

Journal: International journal of cardiology
Published: November 23, 2015

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Journal: PLoS genetics
Published: August 07, 2015
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Last Updated: 09/26/2026