Masamune Sakamoto

Yokohama, Japan

Last Updated: 09/26/2026

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Found 27 publications

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Journal: Journal of human genetics

Published: October 27, 2025

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

Journal: Journal of human genetics

Published: September 08, 2025

Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome.

Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome.

Journal: Journal of human genetics

Published: September 06, 2025

A Case of CACNA1I-Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum.

A Case of CACNA1I-Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum.

Journal: Clinical genetics

Published: August 20, 2025

A practical framework for predicting splicing single nucleotide variants in exome sequencing.

A practical framework for predicting splicing single nucleotide variants in exome sequencing.

Journal: NAR genomics and bioinformatics

Published: July 15, 2025

Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.

Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.

Journal: American journal of medical genetics. Part A

Published: April 03, 2025

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Journal: NPJ genomic medicine

Published: March 11, 2025

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Journal: American journal of human genetics

Published: February 11, 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

Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature.

Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature.

Journal: Clinical epigenetics

Published: August 23, 2024

Clinical and genetic spectrum of patients with IRF2BPL syndrome.

Clinical and genetic spectrum of patients with IRF2BPL syndrome.

Journal: Journal of human genetics

Published: August 08, 2024

A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.

A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.

Journal: Journal of neurology

Published: May 13, 2024

Showing 1-12 of 27

Last Updated: 09/26/2026