Naoto Nishimura
Yokohama, Japan
Last Updated: 09/26/2026
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Found 34 publications
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.
Journal: Journal of human genetics
Published: October 27, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
Journal: NPJ genomic medicine
Published: March 11, 2025
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.
Journal: Clinical epigenetics
Published: August 23, 2024
Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder.
Journal: American journal of medical genetics. Part A
Published: May 10, 2022
Expression and localization of tight junction-related proteins in adult rat pituitary stem/progenitor cell niches.
Journal: The Journal of reproduction and development
Published: April 14, 2022
Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.
Journal: Molecular syndromology
Published: May 14, 2021
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
Journal: Molecular syndromology
Published: March 30, 2021
Expanding the phenotype of COL4A1-related disorders-Four novel variants.
Journal: Brain & development
Published: April 01, 2020
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Journal: American journal of medical genetics. Part A
Published: March 26, 2020
Last Updated: 09/26/2026