Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement

Quantifying atherogenic lipoproteins for lipid-lowering strategies: Consensus-based recommendations from EAS and EFLM

(2020) Børge G. Nordestgaard et al.   ATHEROSCLEROSIS

ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia

(2020) Laurens F. Reeskamp et al.   Journal of Clinical Lipidology

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia

(2020) Maria Donata Di Taranto et al.   Journal of Clinical Medicine

Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype

(2019) Hayato Tada et al.   CIRCULATION JOURNAL

Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio

(2019) Maria Donata Di Taranto et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Toward a new clinical classification of patients with familial hypercholesterolemia: One perspective from Spain

(2019) Luis Masana et al.   ATHEROSCLEROSIS

2019 ESC/EAS guidelines for the management of dyslipidaemias: Lipid modification to reduce cardiovascular risk

(2019) François Mach et al.   ATHEROSCLEROSIS

Recent AHA/ACC guidelines on cholesterol management expands the role of the clinical laboratory

(2019) Jing Cao et al.   CLINICA CHIMICA ACTA

The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9

(2019) Rosa M. Sánchez-Hernández et al.   ATHEROSCLEROSIS

Familial hypercholesterolemia: A complex genetic disease with variable phenotypes

(2019) Maria Donata Di Taranto et al.   European Journal of Medical Genetics

Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

(2018) Manuela Casula et al.   ATHEROSCLEROSIS

Clinical Genetic Testing for Familial Hypercholesterolemia

(2018) Amy C. Sturm et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

ClinVar database of global familial hypercholesterolemia-associated DNA variants

(2018) Michael A. Iacocca et al.   HUMAN MUTATION

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

Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing

(2017) Joshua W. Knowles et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

(2017) Leo E Akioyamen et al.   BMJ Open

Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia

(2017) Paolo Rubba et al.   European Journal of Preventive Cardiology

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia

(2017) Maria Donata Di Taranto et al.   Scientific Reports

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration

(2016) Antonio J. Vallejo-Vaz et al.   ATHEROSCLEROSIS SUPPLEMENTS

Children with hypercholesterolemia of unknown cause: Value of genetic risk scores

(2016) Barbara Sjouke et al.   Journal of Clinical Lipidology

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

(2016) Amit V. Khera et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

(2016) Noura S. Abul-Husn et al.   SCIENCE

High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study

(2016) Anne Langsted et al.   Lancet Diabetes & Endocrinology

Characterization of Autosomal Dominant Hypercholesterolemia Caused byPCSK9Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal AntibodyCLINICAL PERSPECTIVE

(2015) Paul N. Hopkins et al.   Circulation-Cardiovascular Genetics

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

(2015) Albert Wiegman et al.   EUROPEAN HEART JOURNAL

The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification

(2015) Renato Fellin et al.   GENE

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

Association of USF1 and APOA5 polymorphisms with familial combined hyperlipidemia in an Italian population

(2015) Maria Donata Di Taranto et al.   MOLECULAR AND CELLULAR PROBES

Characterization of Autosomal Dominant Hypercholesterolemia Caused byPCSK9Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal AntibodyCLINICAL PERSPECTIVE

(2015) Paul N. Hopkins et al.   Circulation-Cardiovascular Genetics

Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries

(2014) M. Futema et al.   CLINICAL CHEMISTRY

The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family

(2014) Anna Ruotolo et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

(2014) M. Cuchel et al.   EUROPEAN HEART JOURNAL

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

(2013) Stefano Bertolini et al.   ATHEROSCLEROSIS

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

(2013) B. G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with theAPOEp.Leu167del Mutation

(2012) Marie Marduel et al.   HUMAN MUTATION

An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations

(2011) Maria Romano et al.   JOURNAL OF LIPID RESEARCH

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy

(2009) Maria Romano et al.   ATHEROSCLEROSIS

Frequency of Low-Density Lipoprotein Receptor Gene Mutations in Patients With a Clinical Diagnosis of Familial Combined Hyperlipidemia in a Clinical Setting

(2008) Fernando Civeira et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY