Gail E. Graham

Ottawa, ON, Canada

Last Updated: 09/26/2026

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Found 43 publications

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: August 08, 2025

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

Journal: American journal of medical genetics. Part A

Published: January 14, 2025

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant.

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant.

Journal: American journal of medical genetics. Part A

Published: September 18, 2024

Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.

Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.

Journal: American journal of medical genetics. Part A

Published: July 17, 2023

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

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

Published: April 21, 2023

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Journal: Human molecular genetics

Published: March 30, 2023

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Journal: European journal of human genetics : EJHG

Published: February 06, 2023

Exploring genotype-phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome.

Exploring genotype-phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome.

Journal: European journal of human genetics : EJHG

Published: October 27, 2022

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Journal: Clinical genetics

Published: September 25, 2022

Health care implications of the Genetic Non-Discrimination Act: Protection for Canadians' genetic information.

Health care implications of the Genetic Non-Discrimination Act: Protection for Canadians' genetic information.

Journal: Canadian family physician Medecin de famille canadien

Published: September 13, 2022

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Title Not Found

Journal: Canadian family physician Medecin de famille canadien

Published: September 13, 2022

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: May 27, 2022

Showing 1-12 of 43

Last Updated: 09/26/2026