Daisuke Nakato

Tokyo, Japan

Last Updated: 09/26/2026

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Found 16 publications

Towards sustainable hereditary breast and ovarian cancer surveillance: insights from a single-center survey.

Towards sustainable hereditary breast and ovarian cancer surveillance: insights from a single-center survey.

Journal: Journal of human genetics

Published: March 23, 2026

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Journal: iScience

Published: March 02, 2026

Reflex sympathetic dystrophy-like unilateral erythema caused by a germline SCN9A variant.

Reflex sympathetic dystrophy-like unilateral erythema caused by a germline SCN9A variant.

Journal: European journal of medical genetics

Published: February 12, 2026

Hypoplastic Left Heart Syndrome Variant With Unexpected Early Sudden Death in a Newborn Infant With ZTTK Syndrome.

Hypoplastic Left Heart Syndrome Variant With Unexpected Early Sudden Death in a Newborn Infant With ZTTK Syndrome.

Journal: Congenital anomalies

Published: January 19, 2026

Recurrent Pneumothorax in PIEZO2-Related Arthrogryposis: Implications for the Mechanosensory Function of PIEZO2 in the Respiratory System.

Recurrent Pneumothorax in PIEZO2-Related Arthrogryposis: Implications for the Mechanosensory Function of PIEZO2 in the Respiratory System.

Journal: Congenital anomalies

Published: January 09, 2026

Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond.

Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond.

Journal: Journal of human genetics

Published: May 07, 2025

Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis.

Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis.

Journal: Human genome variation

Published: April 29, 2025

RHOA-associated disorder can be non-mosaic.

RHOA-associated disorder can be non-mosaic.

Journal: European journal of medical genetics

Published: December 27, 2024

De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model.

De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model.

Journal: European journal of medical genetics

Published: September 30, 2024

PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.

PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.

Journal: Journal of medical genetics

Published: September 10, 2024

Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED).

Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED).

Journal: European journal of medical genetics

Published: August 19, 2024

Digital clubbing without hypoxia for lysinuric protein intolerance.

Digital clubbing without hypoxia for lysinuric protein intolerance.

Journal: European journal of medical genetics

Published: June 21, 2024

Showing 1-12 of 16

Last Updated: 09/26/2026