Eric J. Diehl-Chater

555 University Ave
Toronto, ON M5G0A4, Canada

Last Updated: 09/26/2026

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Found 18 publications

45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.

45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.

Journal: American journal of medical genetics. Part A

Published: September 21, 2023

Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model.

Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model.

Journal: Clinical epigenetics

Published: May 31, 2023

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.

Journal: Acta neuropathologica

Published: March 02, 2022

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.

Journal: European journal of human genetics : EJHG

Published: September 20, 2021

The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.

The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.

Journal: American journal of medical genetics. Part A

Published: September 14, 2021

Epigenetic Impacts of Early Life Stress in Fetal Alcohol Spectrum Disorders Shape the Neurodevelopmental Continuum.

Epigenetic Impacts of Early Life Stress in Fetal Alcohol Spectrum Disorders Shape the Neurodevelopmental Continuum.

Journal: Frontiers in molecular neuroscience

Published: February 24, 2021

Anatomy of DNA methylation signatures: Emerging insights and applications.

Anatomy of DNA methylation signatures: Emerging insights and applications.

Journal: American journal of human genetics

Published: February 05, 2021

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 26, 2021

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

Journal: American journal of human genetics

Published: January 20, 2021

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Journal: American journal of human genetics

Published: December 09, 2019

Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation.

Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation.

Journal: Journal of neurodevelopmental disorders

Published: November 18, 2019

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.

Journal: BMC medical genomics

Published: April 25, 2019

Showing 1-12 of 18

Last Updated: 09/26/2026