Rika Kosaki

Tokyo, Japan

Last Updated: 09/26/2026

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Found 78 publications

Phenotypic and Genetic Insights Into CNOT3-Related Intellectual Developmental Disorder of Speech Delay, Autism, and Dysmorphic Faces (IDDSADF) From the First Two Japanese Cases.

Phenotypic and Genetic Insights Into CNOT3-Related Intellectual Developmental Disorder of Speech Delay, Autism, and Dysmorphic Faces (IDDSADF) From the First Two Japanese Cases.

Journal: American journal of medical genetics. Part A

Published: March 11, 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

Clinical features of syndromic microphthalmia in two novel RARB variants.

Clinical features of syndromic microphthalmia in two novel RARB variants.

Journal: Human genome variation

Published: October 05, 2025

DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.

DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.

Journal: Human genome variation

Published: August 14, 2025

Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site.

Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site.

Journal: Clinical epigenetics

Published: July 14, 2025

National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan.

National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan.

Journal: Aging

Published: April 02, 2025

For early diagnosis of young patients with Werner syndrome: Indication for genetic testing.

For early diagnosis of young patients with Werner syndrome: Indication for genetic testing.

Journal: Geriatrics & gerontology international

Published: December 19, 2024

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

Journal: The Journal of clinical endocrinology and metabolism

Published: October 21, 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

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.

Journal: Clinical epigenetics

Published: May 13, 2024

First report of a Japanese patient with Silver-Russell syndrome and cystic fibrosis.

First report of a Japanese patient with Silver-Russell syndrome and cystic fibrosis.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: April 10, 2024

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

Journal: Journal of medical genetics

Published: January 08, 2024

Showing 1-12 of 78

Last Updated: 09/26/2026