Angharad M. Roberts
London, ENG W120HS, United Kingdom
Last Updated: 09/26/2026
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Found 29 publications
The Human Phenotype Ontology in 2024: phenotypes around the world.
Journal: Nucleic acids research
Published: September 13, 2023
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Journal: Genome medicine
Published: July 30, 2023
Sex Differences in the Clinical Presentation and Natural History of Dilated Cardiomyopathy.
Journal: JACC. Heart failure
Published: May 05, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 21, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Journal: medRxiv : the preprint server for health sciences
Published: April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
Journal: medRxiv : the preprint server for health sciences
Published: April 17, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Journal: Genome medicine
Published: April 04, 2023
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 30, 2021
Direct and indirect effect of the COVID-19 pandemic on patients with cardiomyopathy.
Journal: Open heart
Published: December 14, 2021
Noncompaction Cardiomyopathy, Sick Sinus Disease, and Aortic Dilatation: Too Much for a Single Diagnosis?
Journal: JACC. Case reports
Published: October 29, 2021
Correspondence 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.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 26, 2021
Last Updated: 09/26/2026