Atsuko Okazaki

6PUBLICATIONS
31CO-AUTHORS
Metabolic medicineGene mappingEpigenetics (incl. genome methylation and epigenomics)Neonatology
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Publications (6)

|Jun 18, 2026
Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers.

|Dec 17, 2025
Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing.

Kohta Nakamura, Yoshihito Kishita, Ayumu Sugiura

|Sep 02, 2022
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease.

Atsuko Imai-Okazaki, Kazuhiro R Nitta, Yukiko Yatsuka

|Oct 09, 2021
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.

Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama

|Aug 05, 2020
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome.

Yoshihito Kishita, Masaru Shimura, Masakazu Kohda

|Jul 20, 2017
HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing.

Atsuko Imai-Okazaki, Masakazu Kohda, Kaori Kobayashi

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Frequent Collaborators

4 joint publications

Yasushi Okazaki

3 joint publications

Yoshihito Kishita

3 joint publications

Yukiko Yatsuka

3 joint publications

Akira Ohtake