Sarah E. Leigh
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 17 publications
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Journal: Genetics in medicine open
Published: March 19, 2025
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Journal: medRxiv : the preprint server for health sciences
Published: November 28, 2024
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 13, 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
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
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
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
Journal: The New England journal of medicine
Published: November 10, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Journal: American journal of human genetics
Published: April 26, 2021
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 24, 2021
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Journal: Nature genetics
Published: November 03, 2019
ClinVar database of global familial hypercholesterolemia-associated DNA variants.
Journal: Human mutation
Published: May 02, 2018
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.
Journal: Journal of the American College of Cardiology
Published: February 12, 2018
Last Updated: 09/26/2026