Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy

Validation of copy number variation analysis for next-generation sequencing diagnostics

(2017) Jamie M Ellingford et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing

(2017) Angelo B. Cefalù et al.   Journal of Clinical Lipidology

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

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

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained ClinicallyHighlights

(2016) Jian Wang et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217

(2016) Marianne Benn et al.   EUROPEAN HEART JOURNAL

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

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

Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain

(2016) Itziar Lamiquiz-Moneo et al.   Lipids in Health and Disease

Clinical and genetic analysis of a family diagnosed with familial hypobetalipoproteinemia in which the proband was diagnosed with diabetes mellitus

(2015) Xiaoli Wang et al.   ATHEROSCLEROSIS

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia

(2015) Claudio Rabacchi et al.   ATHEROSCLEROSIS

Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvian population

(2015) Ilze Radovica-Spalvina et al.   BMC Medical Genetics

Targeted next-generation sequencing in monogenic dyslipidemias

(2015) Robert A. Hegele et al.   CURRENT OPINION IN LIPIDOLOGY

Chylomicronaemia—current diagnosis and future therapies

(2015) Amanda J. Brahm et al.   Nature Reviews Endocrinology

Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies

(2014) Gilles Millat et al.   CLINICA CHIMICA ACTA

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

(2014) Christopher T. Johansen et al.   JOURNAL OF LIPID RESEARCH

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

(2013) Stefano Bertolini et al.   ATHEROSCLEROSIS

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

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

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

(2013) Ilenia Minicocci et al.   JOURNAL OF LIPID RESEARCH

Diagnostic et traitement des hypercholestérolémies familiales (HF) chez l’adulte : recommandations de la Nouvelle société française d’athérosclérose (NSFA)

(2013) Michel Farnier et al.   PRESSE MEDICALE

Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia

(2012) Davide Noto et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Genetic analysis of familial hypercholesterolaemia in Western Australia

(2012) Amanda J. Hooper et al.   ATHEROSCLEROSIS

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

(2012) Mohammad Mahdi Motazacker et al.   EUROPEAN HEART JOURNAL

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

(2012) Roeland Huijgen et al.   EUROPEAN HEART JOURNAL

Mutations inLPL,APOC2,APOA5,GPIHBP1andLMF1in patients with severe hypertriglyceridaemia

(2012) R. P. Surendran et al.   JOURNAL OF INTERNAL MEDICINE

Genetic variation inAPOB,PCSK9, andANGPTL3in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels

(2011) Roeland Huijgen et al.   HUMAN MUTATION

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

(2010) Marie Marduel et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

(2009) A Taylor et al.   CLINICAL GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia

(2008) Trond P. Leren et al.   CLINICA CHIMICA ACTA

Polymorphisms Associated with Cholesterol and Risk of Cardiovascular Events

(2008) Sekar Kathiresan et al.   NEW ENGLAND JOURNAL OF MEDICINE