Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 2025
Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.
Islam MM et al.
Jacc. Basic to Translational Science, 2025
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
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Souter V et al.
Circulation. Genomic and Precision Medicine, 2024
Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs.
Mori AA et al.
Gene, 2024
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies.
Larrea-Sebal A et al.
Current Atherosclerosis Reports, 2023
High-Throughput Microscopy Characterization of Rare LDLR Variants.
Graça R et al.
Jacc. Basic to Translational Science, 2023
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges JB et al.
Gene, 2023
LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients.
Barbosa TKA et al.
Gene, 2023
Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.
Fahed AC et al.
Jama Network Open, 2022
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
LDLR variants functional characterization: Contribution to variant classification.
Alves AC et al.
Atherosclerosis, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
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
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Fahed AC et al.
Nature Communications, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
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
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.
Molfetta GA et al.
Genetics and Molecular Research : Gmr, 2017
The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.
Gabčová D et al.
Physiological Research, 2017
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
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
Jannes CE et al.
Atherosclerosis, 2015
Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
Futema M et al.
Atherosclerosis, 2013
Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland.
Ho CK et al.
Scottish Medical Journal, 2012
Update of the Portuguese Familial Hypercholesterolaemia Study.
Medeiros AM et al.
Atherosclerosis, 2010
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.
Taylor A et al.
Clinical Genetics, 2010
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Mutation screening in patients for familial hypercholesterolaemia (ADH).
Taylor A et al.
Clinical Genetics, 2010
Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
Wright WT et al.
Clinical Genetics, 2008
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
Taylor A et al.
Clinical Genetics, 2007
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
Wang J et al.
Human Mutation, 2001
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
Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.
Haddad L et al.
Journal of Lipid Research, 1999
Familial defective apolipoprotein B-100 (R3500Q) in Northern Ireland.
McClean E et al.
British Journal of Biomedical Science, 1999