Associated Papers
ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.
Temel SG et al.
International Journal of Molecular Sciences, 2026
LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.
Bogsrud MP et al.
European Heart Journal, 2025
Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.
Yazıcı H et al.
Journal of Clinical Lipidology, 2025
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Child-parent cascade screening for familial hypercholesterolemia in Slovenia: Insights from the pilot program.
Šikonja J et al.
Atherosclerosis, 2025
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.
Erdoğan KM et al.
Annals of Human Genetics, 2025
Lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants.
Kolovou G et al.
Orphanet Journal of Rare Diseases, 2025
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia.
Yazıcı H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Efficacy and Safety of Inclisiran in Adolescents With Genetically Confirmed Homozygous Familial Hypercholesterolemia: Results From the Double-Blind, Placebo-Controlled Part of the ORION-13 Randomized Trial.
Wiegman A et al.
Circulation, 2025
Role of Next-Generation Sequencing in Diagnosis of Familial Hypercholesterolemia in Serbia.
Lukac SS et al.
Diagnostics (basel, Switzerland), 2025
Secondary findings in 443 exome sequencing data.
Branković M et al.
Annals of Human Genetics, 2025
Secondary Findings from Exome Sequencing of a Greek Cohort.
Kostoulas C et al.
Current Issues in Molecular Biology, 2025
Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.
Adolfsson E et al.
Atherosclerosis Plus, 2025
Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.
Ferch M et al.
European Journal of Preventive Cardiology, 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
Partial loss of FITM2 function causes hereditary spastic paraplegia.
Salazar-Villacorta A et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients.
Kamenarova K et al.
Scientific Reports, 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
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Souter V et al.
Circulation. Genomic and Precision Medicine, 2024
Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial.
Raal F et al.
Circulation, 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
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Gratton J et al.
Jacc. Advances, 2023
Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia.
Chaudhry A et al.
Circulation. Genomic and Precision Medicine, 2023
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.
Hutchcraft ML et al.
Journal of Personalized Medicine, 2022
Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.
Madar L et al.
Genes, 2022
The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia.
Hu H et al.
Lipids in Health and Disease, 2021
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.
D'Erasmo L et al.
Orphanet Journal of Rare Diseases, 2021
Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.
Hindi NN et al.
Journal of Personalized Medicine, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.
Turkyilmaz A et al.
Metabolic Syndrome and Related Disorders, 2021
Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.
Vlad CE et al.
Journal of Clinical Medicine, 2021
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
From lipoprotein apheresis to proprotein convertase subtilisin/kexin type 9 inhibitors: Impact on low-density lipoprotein cholesterol and C-reactive protein levels in cardiovascular disease patients.
Zenti MG et al.
European Journal of Preventive Cardiology, 2018
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
Pirillo A et al.
Atherosclerosis. Supplements, 2017
The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.
Gabčová D et al.
Physiological Research, 2017
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Sánchez-Hernández RM et al.
Circulation. Cardiovascular Genetics, 2016
Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
Mollaki V et al.
Atherosclerosis, 2014
Mutation detection in Croatian patients with familial hypercholesterolemia.
Pećin I et al.
Annals of Human Genetics, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.
Huijgen R et al.
European Heart Journal, 2012
Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).
Schaefer JR et al.
Clinical Research in Cardiology Supplements, 2012
Role of genetic changes in the progression of cardiovascular diseases.
Sheweita SA et al.
International Journal of Biomedical Science : Ijbs, 2011
Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
Diakou M et al.
European Journal of Internal Medicine, 2011
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Dušková L et al.
Atherosclerosis, 2011