Chieko Chijiwa

C234-4500 Oak Street
Vancouver, BC V6H3N1, Canada

Last Updated: 09/26/2026

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Found 9 publications

Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases.

Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases.

Journal: Genes

Published: March 06, 2024

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Journal: HGG advances

Published: September 16, 2021

Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings.

Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings.

Journal: Genes

Published: May 29, 2021

Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report.

Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report.

Journal: Fetal and pediatric pathology

Published: April 28, 2020

Germline AGO2 mutations impair RNA interference and human neurological development.

Germline AGO2 mutations impair RNA interference and human neurological development.

Journal: Nature communications

Published: December 28, 2019

Renpenning syndrome in a female.

Renpenning syndrome in a female.

Journal: American journal of medical genetics. Part A

Published: April 13, 2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Journal: American journal of human genetics

Published: April 06, 2019

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.

Journal: BMC medical genetics

Published: May 03, 2016

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Journal: Human mutation

Published: October 28, 2015

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Last Updated: 09/26/2026