Kathleen Rooney

London, ON, Canada

Last Updated: 09/26/2026

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Found 25 publications

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Journal: European journal of human genetics : EJHG

Published: May 01, 2025

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

Journal: HGG advances

Published: September 05, 2024

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: August 16, 2024

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: August 09, 2024

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Journal: European journal of human genetics : EJHG

Published: July 11, 2024

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Journal: Human genetics

Published: December 14, 2023

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

Journal: HGG advances

Published: December 06, 2023

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Journal: HGG advances

Published: November 13, 2023

Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Journal: European journal of human genetics : EJHG

Published: October 24, 2023

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Journal: Clinical genetics

Published: August 27, 2023

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.

Journal: International journal of molecular sciences

Published: August 17, 2023

DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.

DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.

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

Published: July 04, 2023

Showing 1-12 of 25

Last Updated: 09/26/2026