Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.
Levy ME et al.
Circulation. Genomic and Precision Medicine, 2025
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues.
Larrea-Sebal A et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.
Shum BOV et al.
Clinical Chemistry, 2023
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Gandhi GD et al.
Journal of Translational Medicine, 2022
The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects.
Diboun I et al.
Frontiers in Genetics, 2022
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Elfatih A et al.
Human Mutation, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Evaluation of high-resolution melting analysis for screening the LDL receptor gene.
Laurie AD et al.
Clinical Biochemistry, 2009
Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.
Alharbi KK et al.
Genome Research, 2005
Combination of His-tagged T4 endonuclease VII with microplate array diagonal gel electrophoresis for high-throughput mutation scanning.
Smith MJ et al.
Clinical Chemistry, 2005
A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.
Heath KE et al.
European Journal of Human Genetics : Ejhg, 2001