Kohei Hamanaka

Yokohama, 2360004, Japan

Last Updated: 09/26/2026

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Found 93 publications

Episodic ataxia type 2 with a novel CACNA1A variant: A video case report.

Episodic ataxia type 2 with a novel CACNA1A variant: A video case report.

Journal: Clinical neurology and neurosurgery

Published: March 29, 2026

Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.

Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.

Journal: Journal of human genetics

Published: March 02, 2026

Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Journal: Journal of human genetics

Published: November 09, 2025

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

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.

Journal: NPJ genomic medicine

Published: August 14, 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

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

Mosaic deletions detected by genome sequencing in two families.

Mosaic deletions detected by genome sequencing in two families.

Journal: Journal of human genetics

Published: February 20, 2025

A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness.

A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness.

Journal: Cureus

Published: February 13, 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

Showing 1-12 of 93

Last Updated: 09/26/2026