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Tomoko Hirata

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
2016 · Masakazu Kohda, Yoshimi Tokuzawa, et al. · PLoS Genetics · 312
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Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background
2019 · Atsuko Imai-Okazaki, Yoshihito Kishita, et al. · International Journal of Cardiology · 55
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients
2021 · Atsuko Imai-Okazaki, Ayako Matsunaga, et al. · International Journal of Cardiology · 31
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Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein
2016 · Atsuko Imai, Shuhei Fujita, et al. · International Journal of Cardiology · 30
Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies
2016 · Masakazu Kohda, Kensuke Kumamoto, et al. · Familial Cancer · 24
Barth Syndrome: Different Approaches to Diagnosis
2017 · Atsuko Imai-Okazaki, Yoshihito Kishita, et al. · The Journal of Pediatrics · 22
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy
2024 · Kokoro Ozaki, Yukiko Yatsuka, et al. · npj Genomic Medicine · 11
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A single-cell atlas of transcribed cis -regulatory elements in the human genome
2023 · Jonathan Moody, Tsukasa Kouno, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 9
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HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing
2017 · Atsuko Imai-Okazaki, Masakazu Kohda, et al. · Human Mutation · 7
Isoform analysis of heterozygous putative splicing variants at the allele level using nanopore long-read sequencing
2025 · Kokoro Ozaki, Takashi Irioka, et al. · Scientific Reports · 2
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Germline MBD4 nonsense mutation in a Japanese female rectal cancer patient with multiple colonic polyps
2016 · Yuhki Tada, Kohji Tanakaya, et al. · The Molecular Biology Society of Japan
The genetic background of patients suspected of mitochondrial disorders
2016 · Masakazu Kohda, Yoshihito Kishita, et al. · The Molecular Biology Society of Japan
Genetic analysis of mitochondrial disorder in Japanese patients
2016 · Masakazu Kohda, Yoshihito Kishita, et al.
Expression in E. coli of a putative tryptophan monooxygenase from Ralstonia solanacearum
2005 · Tomoko Hirata, Haruo Suzuki · 生化学
Works count: 14
Citation count: 503
H-index: 8
I10-index: 7
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