Associated Papers
Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Stevens CAT et al.
Journal of the American Heart Association, 2024
Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank.
Gratton J et al.
Bmj Public Health, 2023
Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank-Brief Report.
Gratton J et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2023
Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.
Shum BOV et al.
Clinical Chemistry, 2023
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Gratton J et al.
Jacc. Advances, 2023
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Abul-Husn NS et al.
Science (new York, N.y.), 2016
Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.
Martin R et al.
Atherosclerosis, 2016
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2015
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
Vandrovcova J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
Faiz F et al.
Atherosclerosis, 2013
Evaluation of high-resolution melting analysis for screening the LDL receptor gene.
Laurie AD et al.
Clinical Biochemistry, 2009
Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
Wright WT et al.
Clinical Genetics, 2008
Vascular calcifications in homozygote familial hypercholesterolemia.
Awan Z et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2008
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.
Humphries SE et al.
Journal of Molecular Medicine (berlin, Germany), 2006