Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing

Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 ( PCSK9 ) gain-of-function mutation

(2014) Hiroshi Mabuchi et al.   ATHEROSCLEROSIS

Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia

(2014) Sigrid W. Fouchier et al.   CIRCULATION RESEARCH

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing

(2014) C. Maglio et al.   JOURNAL OF INTERNAL MEDICINE

Whole exome sequencing of familial hypercholesterolaemia patients negative forLDLR/APOB/PCSK9mutations

(2014) Marta Futema et al.   JOURNAL OF MEDICAL GENETICS

Serum Cholesterol Concentration and Prevalence, Awareness, Treatment, and Control of High Low‐Density Lipoprotein Cholesterol in the Korea National Health and Nutrition Examination Surveys 2008–2010: Beyond the Tip of the Iceberg

(2014) Yong‐ho Lee et al.   Journal of the American Heart Association

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

(2013) Marta Futema et al.   ATHEROSCLEROSIS

Familial hypercholesterolaemia: A pressing issue for European health care

(2013) Philippa Brice et al.   ATHEROSCLEROSIS

APOE p.Leu167del mutation in familial hypercholesterolemia

(2013) Zuhier Awan et al.   ATHEROSCLEROSIS

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

(2013) Jana Vandrovcova et al.   GENETICS IN MEDICINE

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

(2013) Philippa J Talmud et al.   LANCET

Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

(2012) Ebele Usifo et al.   ANNALS OF HUMAN GENETICS

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

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

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Heterozygous familial hypercholesterolemia in Hong Kong Chinese. Study of 252 cases

(2012) Miao Hu et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

(2012) Marta Futema et al.   JOURNAL OF MEDICAL GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Detection of Mutations and Large Rearrangements of the Low-Density Lipoprotein Receptor Gene in Taiwanese Patients With Familial Hypercholesterolemia

(2010) Kuan-Rau Chiou et al.   AMERICAN JOURNAL OF CARDIOLOGY

Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia

(2010) A. Garcia-Rios et al.   ATHEROSCLEROSIS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation

(2009) Tohru Noguchi et al.   ATHEROSCLEROSIS

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

Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia

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

Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population

(2008) Yasuko Miyake et al.   ATHEROSCLEROSIS

Characterization of novel mutations in the catalytic domain of the PCSK9 gene

(2008) J. Cameron et al.   JOURNAL OF INTERNAL MEDICINE