Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION

Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia

(2022) Muhidien Soufi et al.   Frontiers in Genetics

ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell

(2022) Amy Wing-Sze Leung et al.   BMC Medical Genomics

Induced pluripotent stem cell line ICGi037-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to heterozygous p.Trp443Arg mutations in LDLR

(2022) Irina S. Zakharova et al.   Stem Cell Research

Induced pluripotent stem cell line ICGi038-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to compound heterozygous c.1246C > T/c.940 + 3_940 + 6del mutations in LDLR

(2022) Irina S. Zakharova et al.   Stem Cell Research

Induced pluripotent stem cell line ICGi036-A generated by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia caused due to compound heterozygous p.Ser177Leu/p.Cys352Arg mutations in LDLR

(2022) Irina S. Zakharova et al.   Stem Cell Research

Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients

(2022) Lena Rutkowska et al.   Genes

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

(2022) Margaret Sunitha Selvaraj et al.   Nature Communications

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia

(2021) Alexey Meshkov et al.   Genes

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

(2021) Philipp Rentzsch et al.   Genome Medicine

Identification and Functional Characterization of a Low-Density Lipoprotein Receptor Gene Pathogenic Variant in Familial Hypercholesterolemia

(2021) Hong-Yan Shu et al.   Frontiers in Genetics

New strategies to improve minimap2 alignment accuracy

(2021) Heng Li   BIOINFORMATICS

Alu insertion variants alter gene transcript levels

(2021) Lindsay M. Payer et al.   GENOME RESEARCH

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

(2021) Albina Nowak et al.   Scientific Reports

Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia)

(2021) Elena Shakhtshneider et al.   Journal of Personalized Medicine

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia

(2021) Chin-Chou Huang et al.   Journal of Atherosclerosis and Thrombosis

Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020

(2021) Hyoeun Kim et al.   Journal of Atherosclerosis and Thrombosis

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR

(2020) Unai Galicia-Garcia et al.   Scientific Reports

Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease

(2020) Melissa Leija-Salazar et al.   Frontiers in Neurology

Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review

(2019) Noor Shafina Mohd Nor et al.   BMC Pediatrics

2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk

(2019) François Mach et al.   EUROPEAN HEART JOURNAL

Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity

(2019) Poulabi Banerjee et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

Role of DNA copy number variation in dyslipidemias

(2018) Michael A. Iacocca et al.   CURRENT OPINION IN LIPIDOLOGY

Alu insertion variants alter mRNA splicing

(2018) Lindsay M Payer et al.   NUCLEIC ACIDS RESEARCH

Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion

(2017) Thea Bismo Strøm et al.   HUMAN MOLECULAR GENETICS

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

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

Genetic Architecture of Familial Hypercholesterolaemia

(2017) Mahtab Sharifi et al.   Current Cardiology Reports

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained ClinicallyHighlights

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

Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations

(2016) Nitika Setia et al.   ATHEROSCLEROSIS

MultiQC: summarize analysis results for multiple tools and samples in a single report

(2016) Philip Ewels et al.   BIOINFORMATICS

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

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

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland

(2016) Mahtab Sharifi et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD

(2016) Roaa Hani Fairoozy et al.   PLoS One

Familial hypercholesterolemia in Brazil: Cascade screening program, clinical and genetic aspects

(2015) Cinthia E. Jannes et al.   ATHEROSCLEROSIS

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

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

(2015) Aenne S. Thormaehlen et al.   PLoS Genetics

Mutual Effect of rs688 and rs5925 in Regulating Low-Density Lipoprotein Receptor Splicing

(2014) Jiann-Der Lee et al.   DNA AND CELL BIOLOGY

Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia

(2014) Amna Khamis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants

(2014) Aitor Etxebarria et al.   HUMAN MUTATION

Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum

(2014) Thea Bismo Strøm et al.   FEBS Open Bio

Common genetic variants do not associate with CAD in familial hypercholesterolemia

(2013) Erik P A van Iperen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Association of low-density lipoprotein receptor genotypes with hepatitis C viral load

(2013) A Caruz et al.   GENES AND IMMUNITY

A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function

(2013) Feng Gao et al.   HUMAN MOLECULAR GENETICS

The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype–phenotype correlations

(2012) Lukáš Tichý et al.   ATHEROSCLEROSIS

Molecular characterization of familial hypercholesterolemia in Spain

(2011) Lourdes Palacios et al.   ATHEROSCLEROSIS

New contributions to the study of common double mutants in the human LDL receptor gene

(2011) M. Teresa Tejedor et al.   NATURWISSENSCHAFTEN

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

(2010) Radan Goldmann et al.   BMC Medical Genetics

A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects

(2010) Olaug K. Rødningen et al.   CLINICAL GENETICS

Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site

(2010) Mari Ann Kulseth et al.   JOURNAL OF HUMAN GENETICS

Expression and regulation of a low-density lipoprotein receptor exon 12 splice variant

(2010) I-Fang Ling et al.   JOURNAL OF NEUROCHEMISTRY

IDT SciTools: a suite for analysis and design of nucleic acid oligomers

(2008) R. Owczarzy et al.   NUCLEIC ACIDS RESEARCH

Familial hypercholesterolaemia in Portugal

(2007) M. Bourbon et al.   ATHEROSCLEROSIS