Associated Papers
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.
Katsanis N et al.
Human Genomics, 2025
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Souter V et al.
Circulation. Genomic and Precision Medicine, 2024
38506081 (PubMed )
Supplement: hcg-17-e004457-s001.docx
High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico.
Rodríguez-Gutiérrez PG et al.
Archives of Medical Research, 2024
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
37745687 (PubMed )
Supplement: Table2.xlsx › TableS2
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
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates.
Rimbert A et al.
Frontiers in Genetics, 2021
Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.
De Castro-Orós I et al.
Human Mutation, 2011
Update of the Portuguese Familial Hypercholesterolaemia Study.
Medeiros AM et al.
Atherosclerosis, 2010
Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.
Civeira F et al.
Journal of the American College of Cardiology, 2008
A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia.
Smith AJ et al.
European Journal of Human Genetics : Ejhg, 2007
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.
Santos RD et al.
Journal of Clinical Lipidology, 0
Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
Bañares VG et al.
Journal of Clinical Lipidology, 0
The island of Gran Canaria: A genetic isolate for familial hypercholesterolemia.
Sánchez-Hernández RM et al.
Journal of Clinical Lipidology, 0
Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study.
Guerin A et al.
Cmaj Open, 0
37607748 (PubMed )
Supplement: open-2022-0108-2-at.pdf
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