Chihiro Hatano-Abe

Tokyo, Japan

Last Updated: 09/26/2026

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Found 13 publications

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Journal: Molecular genetics and metabolism

Published: December 16, 2025

WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females.

WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females.

Journal: Journal of medical genetics

Published: April 25, 2024

Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.

Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.

Journal: Journal of medical genetics

Published: March 26, 2024

Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report.

Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report.

Journal: Brain & development

Published: December 15, 2021

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Journal: Clinical genetics

Published: November 04, 2021

Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder.

Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder.

Journal: Molecular syndromology

Published: November 01, 2021

Whole genome sequencing of 45 Japanese patients with intellectual disability.

Whole genome sequencing of 45 Japanese patients with intellectual disability.

Journal: American journal of medical genetics. Part A

Published: September 28, 2020

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.

Journal: Molecular genetics & genomic medicine

Published: April 12, 2020

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

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

Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome.

Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome.

Journal: Human genome variation

Published: August 04, 2019

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.

Journal: Cold Spring Harbor molecular case studies

Published: January 10, 2019

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

Journal: European journal of medical genetics

Published: March 12, 2018

Showing 1-12 of 13

Last Updated: 09/26/2026