Exome Sequencing: New Insights into Lipoprotein Disorders

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia

(2013) Angelo B. Cefalù et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

(2013) Nathan O. Stitziel et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

APOE p.Leu167del mutation in familial hypercholesterolemia

(2013) Zuhier Awan et al.   ATHEROSCLEROSIS

Western Database of Lipid Variants (WDLV): A Catalogue of Genetic Variants in Monogenic Dyslipidemias

(2013) Jennifer Fu et al.   CANADIAN JOURNAL OF CARDIOLOGY

Next-generation sequencing: a powerful tool for the discovery of molecular markers in breast ductal carcinomain situ

(2013) Hitchintan Kaur et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

From human genome to cancer genome: The first decade

(2013) D. A. Wheeler et al.   GENOME RESEARCH

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

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

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

First FDA Authorization for Next-Generation Sequencer

(2013) Francis S. Collins et al.   NEW ENGLAND JOURNAL OF MEDICINE

Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia

(2012) María Solanas-Barca et al.   ATHEROSCLEROSIS

Exome Sequencing Identifies 2 Rare Variants for Low High-Density Lipoprotein Cholesterol in an Extended Family

(2012) M.V. Prasad Linga Reddy et al.   Circulation-Cardiovascular Genetics

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Exome sequencing and complex disease: practical aspects of rare variant association studies

(2012) R. Do et al.   HUMAN MOLECULAR GENETICS

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

(2012) Marie Marduel et al.   HUMAN MUTATION

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

(2012) Thorlakur Jonsson et al.   NATURE

What can exome sequencing do for you?

(2011) J. Majewski et al.   JOURNAL OF MEDICAL GENETICS

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Progress and Promise of Genome-Wide Association Studies for Human Complex Trait Genetics

(2010) B. E. Stranger et al.   GENETICS

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

(2010) J. Rios et al.   HUMAN MOLECULAR GENETICS

Massively parallel sequencing and rare disease

(2010) S. B. Ng et al.   HUMAN MOLECULAR GENETICS

Next Generation Sequencing for Clinical Diagnostics-Principles and Application to Targeted Resequencing for Hypertrophic Cardiomyopathy

(2010) Karl V. Voelkerding et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia

(2010) Kiran Musunuru et al.   NEW ENGLAND JOURNAL OF MEDICINE

Next-Generation Sequencing: From Basic Research to Diagnostics

(2009) K. V. Voelkerding et al.   CLINICAL CHEMISTRY

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Evaluation of next generation sequencing platforms for population targeted sequencing studies

(2009) Olivier Harismendy et al.   GENOME BIOLOGY

An Unusual Case of Severe Hypertriglyceridemia and Splenomegaly

(2008) A. R. Rahalkar et al.   CLINICAL CHEMISTRY