Ivone S. Leong
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 17 publications
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 14, 2025
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.
Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology
Published: October 31, 2024
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
Darier disease is associated with heart failure: a cross-sectional case-control and population based study.
Journal: Scientific reports
Published: January 20, 2020
Metabolic phenotype in Darier disease: a cross-sectional clinical study.
Journal: Diabetology & metabolic syndrome
Published: November 11, 2019
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Journal: Nature genetics
Published: November 03, 2019
Darier disease is associated with type 1 diabetes: Findings from a population-based cohort study.
Journal: Journal of the American Academy of Dermatology
Published: March 13, 2019
Novel mutations in Darier disease and association to self-reported disease severity.
Journal: PloS one
Published: August 18, 2017
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.
Journal: Medical sciences (Basel, Switzerland)
Published: June 28, 2017
Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity.
Journal: Journal of clinical medicine research
Published: December 23, 2016
Last Updated: 09/26/2026