Lista de obras - Elizabeth Ormondroyd - Dominio Público Uruguay

"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.

artículo científico publicado en 2017

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

article

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

artículo científico publicado en 2011

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

artículo científico publicado en 2021

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

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

article

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

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

scientific article published on 11 June 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

From Genotype to Phenotype

artículo científico publicado en 2018

Genome wide identification of recessive cancer genes by combinatorial mutation analysis

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 1994

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Lista de obras de Elizabeth Ormondroyd

"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.

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

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

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

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.

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

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

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

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

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

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

From Genotype to Phenotype

Genome wide identification of recessive cancer genes by combinatorial mutation analysis

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

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

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

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

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

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

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