ClinVar database of global familial hypercholesterolemia-associated DNA variants

Recent advances in genetic testing for familial hypercholesterolemia

(2017) Michael A. Iacocca et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

(2017) Austin Bland et al.   GENETICS IN MEDICINE

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

(2017) Joana Rita Chora et al.   GENETICS IN MEDICINE

Use of next-generation sequencing to detectLDLRgene copy number variation in familial hypercholesterolemia

(2017) Michael A. Iacocca et al.   JOURNAL OF LIPID RESEARCH

Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis

(2017) Leo E Akioyamen et al.   BMJ Open

Familial hypercholesterolaemia

(2017) Joep C. Defesche et al.   Nature Reviews Disease Primers

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

(2016) Sarah Leigh et al.   JOURNAL OF MEDICAL GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

(2013) Ana Catarina Alves et al.   HUMAN MOLECULAR GENETICS

The LDL Receptor

(2009) Joseph L. Goldstein et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY