Ebony J. Richardson

Melbourne, VIC, Australia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 19 publications

Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in GNPTAB.

Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in GNPTAB.

Journal: Circulation. Genomic and precision medicine

Published: June 02, 2026

Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants.

Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants.

Journal: Circulation. Genomic and precision medicine

Published: July 02, 2024

Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.

Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.

Journal: medRxiv : the preprint server for health sciences

Published: January 10, 2024

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.

Journal: HGG advances

Published: October 06, 2023

Defining core outcomes of reproductive genetic carrier screening: A Delphi survey of Australian and New Zealand stakeholders.

Defining core outcomes of reproductive genetic carrier screening: A Delphi survey of Australian and New Zealand stakeholders.

Journal: Prenatal diagnosis

Published: April 26, 2023

The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.

The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.

Journal: Genome medicine

Published: June 21, 2022

Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set.

Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set.

Journal: Journal of personalized medicine

Published: June 09, 2022

Correction: Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review.

Correction: Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review.

Journal: European journal of human genetics : EJHG

Published: April 15, 2022

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Journal: Genome medicine

Published: February 09, 2022

A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome.

A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome.

Journal: American journal of human genetics

Published: December 17, 2021

Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review.

Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review.

Journal: European journal of human genetics : EJHG

Published: November 30, 2021

Decision-making about genetic health information among family dyads: a systematic literature review.

Decision-making about genetic health information among family dyads: a systematic literature review.

Journal: Health psychology review

Published: September 21, 2021

Showing 1-12 of 19

Last Updated: 09/26/2026