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Author Details

Angharad M Roberts
National Heart and Lung Institute, Imperial College London
2003
27
14
PMIDPaper TitleJournal TitlePublished Year
38032570Sex Differences in the Clinical Presentation and Natural History of Dilated Cardiomyopathy.JACC Heart Fail2024
38032570Sex Differences in the Clinical Presentation and Natural History of Dilated Cardiomyopathy.JACC Heart Fail2024
37982373Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.Genet Med2024
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
37982373Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.Genet Med2024
37066232Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.medRxiv2023
37872640Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.Genome Med2023
37066275Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.medRxiv2023
37066232Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.medRxiv2023
37872640Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.Genome Med2023
37066275Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.medRxiv2023
34380661Moderate excess alcohol consumption and adverse cardiac remodelling in dilated cardiomyopathy.Heart2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
35257104Noncompaction Cardiomyopathy, Sick Sinus Disease, and Aortic Dilatation: Too Much for a Single Diagnosis?JACC Case Rep2022
34906520Correspondence on "ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)" by Miller et al.Genet Med2022
34380661Moderate excess alcohol consumption and adverse cardiac remodelling in dilated cardiomyopathy.Heart2022
35086919Direct and indirect effect of the COVID-19 pandemic on patients with cardiomyopathy.Open Heart2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
35257104Noncompaction Cardiomyopathy, Sick Sinus Disease, and Aortic Dilatation: Too Much for a Single Diagnosis?JACC Case Rep2022
35086919Direct and indirect effect of the COVID-19 pandemic on patients with cardiomyopathy.Open Heart2022
34906520Correspondence on "ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)" by Miller et al.Genet Med2022
33046849Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.Genet Med2021
33500567Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.Genet Med2021
33046849Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.Genet Med2021
33500567Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.Genet Med2021
32646569Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.J Am Coll Cardiol2020
31983221Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.Circulation2020
32646569Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.J Am Coll Cardiol2020
31983221Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.Circulation2020
30609406Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.Am J Hum Genet2019
29892087A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.Genet Med2019
30609406Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.Am J Hum Genet2019
29892087A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.Genet Med2019
29073955Phenotype and Clinical Outcomes of Titin Cardiomyopathy.J Am Coll Cardiol2017
29073955Phenotype and Clinical Outcomes of Titin Cardiomyopathy.J Am Coll Cardiol2017
25589632Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.Sci Transl Med2015
25589632Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.Sci Transl Med2015
26175529ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure.Circ Cardiovasc Genet2015
26175529ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure.Circ Cardiovasc Genet2015
2282880716p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.Eur J Hum Genet2013
22956155Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.J Cardiovasc Transl Res2013
2282880716p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.Eur J Hum Genet2013
22956155Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.J Cardiovasc Transl Res2013
22128206Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist.Heart2012
22441235Republished review: Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist.Postgrad Med J2012
22128206Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist.Heart2012
22441235Republished review: Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist.Postgrad Med J2012
21204207Genotype-phenotype analysis of the branchio-oculo-facial syndrome.Am J Med Genet A2011
21204207Genotype-phenotype analysis of the branchio-oculo-facial syndrome.Am J Med Genet A2011
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Co-authored papers 3
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Co-authored papers 2
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Co-authored papers 2
National Human Genome Research Institute
Co-authored papers 2
Brigham and Women's Hospital (Y.K.
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