Eriko Koshimizu

Yokohama, Japan

Last Updated: 09/26/2026

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Found 109 publications

Correction: A non-canonical function of zebrafish telomerase reverse transcriptase is required for developmental hematopoiesis.

Correction: A non-canonical function of zebrafish telomerase reverse transcriptase is required for developmental hematopoiesis.

Journal: PloS one
Published: May 29, 2026

Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.

Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.

Journal: Journal of human genetics
Published: April 13, 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

TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.

TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.

Journal: Annals of clinical and translational neurology
Published: January 09, 2026

A Case Report of Pitt-Hopkins Syndrome With Seasonal Exacerbation of Respiratory Dysregulation.

A Case Report of Pitt-Hopkins Syndrome With Seasonal Exacerbation of Respiratory Dysregulation.

Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: November 22, 2025

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

Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.

Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.

Journal: Human genome variation
Published: November 02, 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

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

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

The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis.

The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis.

Journal: iScience
Published: August 11, 2025
Showing 1-12 of 109

Last Updated: 09/26/2026