List of works - Elizabeth Ormondroyd

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

scientific article

Molecular cloning, cDNA sequence, and chromosomal localization of the human phosphatidylinositol 3-kinase p110 alpha (PIK3CA) gene.

scientific article published in December 1994

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

scientific article published on 3 August 2011

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies

scientific article

Disclosure of genetics research results after the death of the patient participant: a qualitative study of the impact on relatives

scientific article published on 11 May 2007

Reproductive decision-making in young female carriers of a BRCA mutation

scientific article

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications

scientific article published on May 2013

"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.

scientific article

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.

scientific article published on 13 September 2016

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

scientific article

Distinct ECG Phenotypes Identified in Hypertrophic Cardiomyopathy Using Machine Learning Associate With Arrhythmic Risk Markers

scientific article published on 13 March 2018

Genome wide identification of recessive cancer genes by combinatorial mutation analysis

scientific article

Communicating genetics research results to families: problems arising when the patient participant is deceased

article

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

scientific article published on 13 February 2018

Exploring the potential duty of care in clinical genomics under UK law.

scientific article published on 14 August 2017

From Genotype to Phenotype

scientific article published on 01 October 2018

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

article

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease

scientific article published on 11 June 2019

Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes

scientific article published on 20 July 2020

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

scientific article published on 12 March 2021

List of works by Elizabeth Ormondroyd

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Molecular cloning, cDNA sequence, and chromosomal localization of the human phosphatidylinositol 3-kinase p110 alpha (PIK3CA) gene.

Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies

Disclosure of genetics research results after the death of the patient participant: a qualitative study of the impact on relatives

Reproductive decision-making in young female carriers of a BRCA mutation

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications

"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.

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.

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

Distinct ECG Phenotypes Identified in Hypertrophic Cardiomyopathy Using Machine Learning Associate With Arrhythmic Risk Markers

Genome wide identification of recessive cancer genes by combinatorial mutation analysis

Communicating genetics research results to families: problems arising when the patient participant is deceased

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

Exploring the potential duty of care in clinical genomics under UK law.

From Genotype to Phenotype

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease

Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening