a public good project by the
Synthesis
Company
of California

© 2026

Elizabeth Ormondroyd | doi.page

0 works0 citations0 h-index

Elizabeth Ormondroyd

Centre for Human Genetics(GB)John Radcliffe Hospital(GB)British Heart Foundation(GB)University of Oxford(GB)Oxford BioMedica (United Kingdom)(GB)

Publications by Year

Research Areas

Cardiomyopathy and Myosin Studies, Genomics and Rare Diseases, BRCA gene mutations in cancer, Congenital heart defects research, Cancer Genomics and Diagnostics

Most-Cited Works

→ Factors influencing success of clinical genome sequencing across a broad spectrum of disorders(2015)386 cited
→ Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity(2021)325 cited
→ Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies(2016)156 cited
→ Molecular Cloning, cDNA Sequence, and Chromosomal Localization of the Human Phosphatidylinositol 3-Kinase p110α (PIK3CA) Gene(1994)95 cited
→ Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis(2011)92 cited
→ Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications(2013)83 cited

→ Distinct ECG Phenotypes Identified in Hypertrophic Cardiomyopathy Using Machine Learning Associate With Arrhythmic Risk Markers(2018)83 cited

→ Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation(1990)82 cited

→ Reproductive decision-making in young female carriers of a BRCA mutation(2013)82 cited

→ Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction(2016)80 cited