Ohsuke Migita

Kanagawa, Japan

Last Updated: 09/26/2026

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Found 36 publications

Automated detection of mulberry bodies in urinary sediment for non-invasive Fabry disease screening.

Automated detection of mulberry bodies in urinary sediment for non-invasive Fabry disease screening.

Journal: Clinical chemistry and laboratory medicine

Published: March 06, 2026

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.

Journal: Biochemistry and biophysics reports

Published: December 22, 2025

Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer.

Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer.

Journal: Journal of human genetics

Published: May 08, 2025

The utility of urine specific gravity in combination with urinary qualitative protein testing for detecting abnormal proteinuria.

The utility of urine specific gravity in combination with urinary qualitative protein testing for detecting abnormal proteinuria.

Journal: Clinical and experimental nephrology

Published: January 16, 2025

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Journal: Orphanet journal of rare diseases

Published: December 05, 2024

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.

Journal: Molecular genetics & genomic medicine

Published: May 28, 2024

An approach for improvement of the accuracy of cancer gene panel testing.

An approach for improvement of the accuracy of cancer gene panel testing.

Journal: International journal of clinical oncology

Published: August 18, 2023

Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.

Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.

Journal: Genetics in medicine open

Published: July 18, 2023

Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants.

Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants.

Journal: Brain & development

Published: September 13, 2022

A novel FLNA variant in a fetus with skeletal dysplasia.

A novel FLNA variant in a fetus with skeletal dysplasia.

Journal: Human genome variation

Published: August 19, 2022

Automated urinary sediment detection for Fabry disease using deep-learning algorithms.

Automated urinary sediment detection for Fabry disease using deep-learning algorithms.

Journal: Molecular genetics and metabolism reports

Published: May 29, 2022

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.

Journal: Human genome variation

Published: May 20, 2021

Showing 1-12 of 36

Last Updated: 09/26/2026