Ellie Quinn

Cryptic Splice-altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.

P. Elliott, M. Carmo-Fonseca, L. Monserrat, 2020, Circulation. Genomic and precision medicine.

The novel desmin variant p.Leu115Ile is associated with a unique form of biventricular Arrhythmogenic Cardiomyopathy.

M. Ashworth, P. Elliott, P. Syrris, 2020, The Canadian journal of cardiology.

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

P. Kellman, P. Elliott, J. Moon, 2021, Journal of the American Heart Association.

The experiences of UK-based genetic counsellors working in mainstream settings

Ellie Quinn, Katherine Mazur, Ellie Quinn, 2022, European Journal of Human Genetics.

Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives

P. Elliott, J. Ochoa, J. Kaski, 2019, Circulation.

The promise and challenges of precision medicine in dilated cardiomyopathy

B. Halliday, E. Quinn, Samantha Mason, 2021, European heart journal. Case reports.

The future is mainstream: genetic counselling should be embedded in mainstream medicine

Ellie Quinn, 2023, European Journal of Human Genetics.

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia

M. Patel, Miranda Galey, Ellie Quinn, 2024, European journal of human genetics : EJHG.