Ellie Quinn
Guy's And St. Thomas' National Health Service Foundation Trust
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.
Journal: American journal of respiratory and critical care medicine
Published: August 04, 2025
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.
Journal: European journal of human genetics : EJHG
Published: December 11, 2023
Correction: The future is mainstream: genetic counselling should be embedded in mainstream medicine.
Correction: The future is mainstream: genetic counselling should be embedded in mainstream medicine.
Journal: European journal of human genetics : EJHG
Published: June 19, 2023
The future is mainstream: genetic counselling should be embedded in mainstream medicine.
Journal: European journal of human genetics : EJHG
Published: April 17, 2023
The experiences of UK-based genetic counsellors working in mainstream settings.
Journal: European journal of human genetics : EJHG
Published: January 28, 2022
The promise and challenges of precision medicine in dilated cardiomyopathy.
Journal: European heart journal. Case reports
Published: July 30, 2021
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.
Journal: Journal of the American Heart Association
Published: July 26, 2021
The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy.
Journal: The Canadian journal of cardiology
Published: September 27, 2020
Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.
Journal: Circulation. Genomic and precision medicine
Published: May 13, 2020
Showing 1-10 of 10
Last Updated: 09/26/2026