Yoriko Watanabe

Kurume, Japan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 47 publications

Correction: A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient.

Correction: A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient.

Journal: Journal of human genetics

Published: July 21, 2026

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Journal: Clinical genetics

Published: June 05, 2026

A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient.

A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient.

Journal: Journal of human genetics

Published: February 14, 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

Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.

Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.

Journal: JIMD reports

Published: December 01, 2025

Comparison of Comprehensive Genomic Profiling Testing "Ion Torrent Genexus Sequencer" With FoundationOne.

Comparison of Comprehensive Genomic Profiling Testing "Ion Torrent Genexus Sequencer" With FoundationOne.

Journal: Anticancer research

Published: May 23, 2025

Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss.

Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss.

Journal: International journal of neonatal screening

Published: March 17, 2025

Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis.

Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis.

Journal: Molecular genetics and metabolism reports

Published: February 25, 2025

Comprehensive genetic profiling using tissue and blood in locally advanced tumors.

Comprehensive genetic profiling using tissue and blood in locally advanced tumors.

Journal: Oncology reports

Published: February 04, 2025

Hemizygous SMARCA1 variants cause X-linked intellectual disability.

Hemizygous SMARCA1 variants cause X-linked intellectual disability.

Journal: Journal of human genetics

Published: January 27, 2025

Correction: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.

Correction: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.

Journal: Journal of human genetics

Published: March 08, 2024

The Feeder Effects of Cultured Rice Cells on the Early Development of Rice Zygotes.

The Feeder Effects of Cultured Rice Cells on the Early Development of Rice Zygotes.

Journal: International journal of molecular sciences

Published: October 26, 2023

Showing 1-12 of 47

Last Updated: 09/26/2026