Keiko Yamamoto-Shimojima

Tokyo, 1628666, Japan

Last Updated: 09/26/2026

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Found 20 publications

Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan.

Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan.

Journal: Brain & development

Published: October 09, 2025

Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing.

Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing.

Journal: Journal of human genetics

Published: April 20, 2025

Challenges in genetic counseling for RYR1-related myopathies.

Challenges in genetic counseling for RYR1-related myopathies.

Journal: Brain & development

Published: January 20, 2025

Unique DUP-TRP/INV-DUP Structure Detected by Long-Read Sequencing.

Unique DUP-TRP/INV-DUP Structure Detected by Long-Read Sequencing.

Journal: American journal of medical genetics. Part A

Published: September 04, 2024

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.

Journal: Human genome variation

Published: April 28, 2024

Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent Design.

Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent Design.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: April 17, 2024

Glass syndrome derived from chromosomal breakage downstream region of SATB2.

Glass syndrome derived from chromosomal breakage downstream region of SATB2.

Journal: Brain & development

Published: April 05, 2024

Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures.

Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures.

Journal: Journal of human genetics

Published: February 15, 2024

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.

Journal: Human genome variation

Published: January 22, 2024

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.

Journal: Human genome variation

Published: October 19, 2023

Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers.

Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers.

Journal: Journal of human genetics

Published: July 05, 2023

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.

Journal: Human genome variation

Published: June 11, 2023

Showing 1-12 of 20

Last Updated: 09/26/2026