Next-generation gene discovery for variants of large impact on lipid traits.

PubWeight™: 0.75‹?›

🔗 View Article (PMID 25636063)

Published in Curr Opin Lipidol on April 01, 2015

Authors

Elisabeth Rosenthal1, Elizabeth Blue, Gail P Jarvik

Author Affiliations

1: aDepartment of Medicine (Medical Genetics) bDepartment of Genome Sciences, University of Washington, Seattle, Seattle, Washington, USA.

Articles cited by this

Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods (2008) 126.81

A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53

SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res (2003) 52.26

Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomised trials of statins. Lancet (2005) 32.41

Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet (2008) 26.79

Towards a proteome-scale map of the human protein-protein interaction network. Nature (2005) 24.76

Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet (2011) 18.88

Linkage of early-onset familial breast cancer to chromosome 17q21. Science (1990) 16.21

A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet (2014) 14.56

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet (2003) 11.67

Markov chain Monte Carlo segregation and linkage analysis for oligogenic models. Am J Hum Genet (1997) 10.86

Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem (1974) 9.02

An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Science (2001) 8.73

Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol (2010) 8.69

Discovery and refinement of loci associated with lipid levels. Nat Genet (2013) 7.86

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet (2008) 7.36

Guidelines for investigating causality of sequence variants in human disease. Nature (2014) 7.30

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med (2010) 6.84

Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet (2013) 6.67

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest (1973) 5.87

Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet (2013) 5.58

Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47

The Strong Heart Study. A study of cardiovascular disease in American Indians: design and methods. Am J Epidemiol (1990) 4.89

Loss-of-function mutations in APOC3 and risk of ischemic vascular disease. N Engl J Med (2014) 4.41

A fast, powerful method for detecting identity by descent. Am J Hum Genet (2011) 4.26

A form of the metabolic syndrome associated with mutations in DYRK1B. N Engl J Med (2014) 4.01

Robust methods for the detection of genetic linkage for quantitative data from pedigrees. Genet Epidemiol (1989) 2.78

Joint analysis of functional genomic data and genome-wide association studies of 18 human traits. Am J Hum Genet (2014) 2.55

Linkage studies in a large kindred with familial hypercholesterolemia. Am J Hum Genet (1974) 2.49

ML-236A, ML-236B, and ML-236C, new inhibitors of cholesterogenesis produced by Penicillium citrinium. J Antibiot (Tokyo) (1976) 2.42

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet (2012) 1.96

Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci U S A (1987) 1.93

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet (2014) 1.86

Modulation of plasma triglyceride levels by apoE phenotype: a meta-analysis. J Lipid Res (1992) 1.83

Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nat Genet (1998) 1.52

Linkage analysis incorporating gene-age interactions identifies seven novel lipid loci: the Family Blood Pressure Program. Atherosclerosis (2014) 1.39

The role of large pedigrees in an era of high-throughput sequencing. Hum Genet (2012) 1.37

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. Nat Biotechnol (2014) 1.36

The Framingham Heart Study, on its way to becoming the gold standard for Cardiovascular Genetic Epidemiology? BMC Med Genet (2007) 1.24

Quantitative trait linkage analysis of lipid-related traits in familial type 2 diabetes: evidence for linkage of triglyceride levels to chromosome 19q. Diabetes (2002) 1.21

Myocardial infarction in the familial forms of hypertriglyceridemia. Metabolism (1976) 1.21

Genomewide scan for familial combined hyperlipidemia genes in finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels. Am J Hum Genet (1999) 1.21

Alterations in thyroid status modulate apolipoprotein, hepatic triglyceride lipase, and low density lipoprotein receptor in rats. Endocrinology (1990) 1.14

Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs. Genetics (2011) 1.14

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nat Genet (2014) 1.10

Finding genes and variants for lipid levels after genome-wide association analysis. Curr Opin Lipidol (2012) 1.08

LDL cholesterol: controversies and future therapeutic directions. Lancet (2014) 1.06

Complex genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes. J Clin Invest (1997) 1.05

Probable linkage between essential familial hypercholesterolemia and third complement component (C3). Cytogenet Cell Genet (1976) 1.02

Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. Nat Commun (2014) 1.02

Analysis of allele-specific expression in mouse liver by RNA-Seq: a comparison with Cis-eQTL identified using genetic linkage. Genetics (2013) 1.00

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet (2014) 1.00

Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. PLoS One (2012) 0.98

Genetic predictors of FCHL in four large pedigrees. Influence of ApoB level major locus predicted genotype and LDL subclass phenotype. Arterioscler Thromb (1994) 0.96

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Mol Genet (2013) 0.95

RNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory function. PLoS Genet (2013) 0.94

Epipolymorphisms within lipoprotein genes contribute independently to plasma lipid levels in familial hypercholesterolemia. Epigenetics (2014) 0.92

Linkage and association of phospholipid transfer protein activity to LASS4. J Lipid Res (2011) 0.91

Network-based analysis of genome wide association data provides novel candidate genes for lipid and lipoprotein traits. Mol Cell Proteomics (2013) 0.87

Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. Am J Hum Genet (2013) 0.87

Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. Circ Cardiovasc Genet (2013) 0.87

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet (2014) 0.87

New lipid-lowering drugs: an update. Int J Clin Pract (2012) 0.86

Effect of E670G Polymorphism in PCSK9 Gene on the Risk and Severity of Coronary Heart Disease and Ischemic Stroke in a Tunisian Cohort. J Mol Neurosci (2014) 0.86

Pharmacogenomics, lipid disorders, and treatment options. Clin Pharmacol Ther (2014) 0.85

A methodology for multivariate phenotype-based genome-wide association studies to mine pleiotropic genes. BMC Syst Biol (2011) 0.85

Introduction: linkage analyses in the Hutterites. Genet Epidemiol (2001) 0.85

Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families. Hum Genet (2010) 0.84

Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family. Circ Cardiovasc Genet (2012) 0.82

The genetics of familial combined hyperlipidaemia. Nat Rev Endocrinol (2012) 0.81

Genetic and environmental determinants of the susceptibility of Amerindian derived populations for having hypertriglyceridemia. Metabolism (2014) 0.81

Genome-wide association studies identified novel loci for non-high-density lipoprotein cholesterol and its postprandial lipemic response. Hum Genet (2014) 0.78

A comprehensive protein-protein interactome for yeast PAS kinase 1 reveals direct inhibition of respiration through the phosphorylation of Cbf1. Mol Biol Cell (2014) 0.78

A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia. BMC Med Genomics (2014) 0.78

Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy. BMC Med Genet (2014) 0.77

Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis. PLoS One (2014) 0.77

Transcriptome and miRNA network analysis of familial hypercholesterolemia. Int J Mol Med (2013) 0.76

Expression and activity of ABCG2, but not ABCB1 or OATP1B1, are associated with cholesterol levels: evidence from in vitro and in vivo experiments. Pharmacogenomics (2014) 0.76

Articles by these authors

(truncated to the top 100)

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07

The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics (2011) 9.20

Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet (2010) 6.74

Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol (2013) 4.85

Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. Am J Med Genet A (2006) 4.56

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med (2013) 4.37

Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study. J Am Med Inform Assoc (2011) 4.20

Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06

Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Am J Hum Genet (2011) 3.85

Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68

Genomic research and wide data sharing: views of prospective participants. Genet Med (2010) 3.45

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network. Genet Med (2012) 3.29

Glad you asked: participants' opinions of re-consent for dbGap data submission. J Empir Res Hum Res Ethics (2010) 3.29

Recommendations for returning genomic incidental findings? We need to talk! Genet Med (2013) 3.23

Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis. Am J Respir Crit Care Med (2008) 2.64

National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health. Ann Intern Med (2009) 2.58

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet (2012) 2.53

Presence of intraplaque hemorrhage stimulates progression of carotid atherosclerotic plaques: a high-resolution magnetic resonance imaging study. Circulation (2005) 2.36

Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery. J Thorac Cardiovasc Surg (2003) 2.25

Periventricular leukomalacia is common after neonatal cardiac surgery. J Thorac Cardiovasc Surg (2004) 2.19

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet (2010) 2.15

The FDA and genomic tests--getting regulation right. N Engl J Med (2015) 2.09

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med (2013) 2.08

Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08

Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. Circulation (2013) 2.06

Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network. Hum Genet (2011) 2.00

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet (2012) 1.96

A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics. Am J Hum Genet (2005) 1.96

Technical desiderata for the integration of genomic data into Electronic Health Records. J Biomed Inform (2011) 1.96

Perioperative stroke in infants undergoing open heart operations for congenital heart disease. Ann Thorac Surg (2009) 1.82

Determination of paraoxonase 1 status without the use of toxic organophosphate substrates. Circ Cardiovasc Genet (2008) 1.76

Arterial remodeling in [corrected] subclinical carotid artery disease. JACC Cardiovasc Imaging (2009) 1.74

Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery. J Thorac Cardiovasc Surg (2007) 1.71

Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. Am J Hum Genet (2011) 1.66

The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery. J Thorac Cardiovasc Surg (2005) 1.65

Neurodevelopmental outcomes after staged palliation for hypoplastic left heart syndrome. Pediatrics (2008) 1.55

Functional genomic of the paraoxonase (PON1) polymorphisms: effects on pesticide sensitivity, cardiovascular disease, and drug metabolism. Annu Rev Med (2001) 1.51

Postoperative electroencephalographic seizures are associated with deficits in executive function and social behaviors at 4 years of age following cardiac surgery in infancy. J Thorac Cardiovasc Surg (2013) 1.50

Informed Consent in Genome-Scale Research: What Do Prospective Participants Think? AJOB Prim Res (2012) 1.50

Predictors of carotid atherosclerotic plaque progression as measured by noninvasive magnetic resonance imaging. Atherosclerosis (2006) 1.48

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Hum Genet (2013) 1.47

Increasing duration of deep hypothermic circulatory arrest is associated with an increased incidence of postoperative electroencephalographic seizures. J Thorac Cardiovasc Surg (2005) 1.45

Leveraging the electronic health record to implement genomic medicine. Genet Med (2012) 1.42

Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q. J Lipid Res (2009) 1.34

Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions. Genet Med (2011) 1.32

Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation. Arterioscler Thromb Vasc Biol (2008) 1.32

Apolipoprotein E genotype modifies the risk of behavior problems after infant cardiac surgery. Pediatrics (2009) 1.30

Loci influencing blood pressure identified using a cardiovascular gene-centric array. Hum Mol Genet (2013) 1.27

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet (2013) 1.27

Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality. Genet Epidemiol (2011) 1.26

Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy? J Thorac Cardiovasc Surg (2010) 1.24

Paraoxonase 1 (PON1) status and substrate hydrolysis. Toxicol Appl Pharmacol (2008) 1.21

CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies. Genet Med (2010) 1.21

Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery. Eur J Cardiothorac Surg (2009) 1.17

Return of incidental findings in genomic medicine: measuring what patients value--development of an instrument to measure preferences for information from next-generation testing (IMPRINT). Genet Med (2013) 1.16

Return of results: ethical and legal distinctions between research and clinical care. Am J Med Genet C Semin Med Genet (2014) 1.16

Multiple genome-wide analyses of smoking behavior in the Framingham Heart Study. BMC Genet (2003) 1.14

Genomic scan of 254 hereditary prostate cancer families. Prostate (2003) 1.14

High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. Clin Transl Sci (2012) 1.13

Heritability of longitudinal measures of body mass index and lipid and lipoprotein levels in aging twins. Twin Res Hum Genet (2007) 1.12

Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot. J Thorac Cardiovasc Surg (2008) 1.10

Identifying patients at high risk of a cardiovascular event in the near future: current status and future directions: report of a national heart, lung, and blood institute working group. Circulation (2010) 1.07

Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families. Anesthesiology (2013) 1.06

The correlation of paraoxonase (PON1) activity with lipid and lipoprotein levels differs with vascular disease status. J Lipid Res (2005) 1.06

Genetic variation associated with circulating monocyte count in the eMERGE Network. Hum Mol Genet (2013) 1.05

Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. Mayo Clin Proc (2012) 1.05

Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease. Lipids Health Dis (2009) 1.03

Role of paraoxonase (PON1) status in pesticide sensitivity: genetic and temporal determinants. Neurotoxicology (2005) 1.02

Characterizing genetic variants for clinical action. Am J Med Genet C Semin Med Genet (2014) 1.02

Refining the structure and content of clinical genomic reports. Am J Med Genet C Semin Med Genet (2014) 1.00

A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk. J Lipid Res (2007) 0.99

Determination of paraoxonase 1 status and genotypes at specific polymorphic sites. Curr Protoc Toxicol (2004) 0.99

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet (2016) 0.99

Paraoxonase 1 status as a risk factor for disease or exposure. Adv Exp Med Biol (2010) 0.99

Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer. PLoS One (2013) 0.98

Low-density lipoprotein particle size loci in familial combined hyperlipidemia: evidence for multiple loci from a genome scan. Arterioscler Thromb Vasc Biol (2004) 0.96

TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects. Hum Genet (2006) 0.95

Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment. Hum Genet (2003) 0.95

Association of genetic variation in serum amyloid-A with cardiovascular disease and interactions with IL6, IL1RN, IL1beta and TNF genes in the Cardiovascular Health Study. J Atheroscler Thromb (2009) 0.95

Prediction of periventricular leukomalacia. Part I: Selection of hemodynamic features using logistic regression and decision tree algorithms. Artif Intell Med (2009) 0.94

Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. PLoS One (2013) 0.94

Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol. J Lipid Res (2013) 0.94

Beneficence, clinical urgency, and the return of individual research results to relatives. Am J Bioeth (2012) 0.93

Inflammatory response after influenza vaccination in men with and without carotid artery disease. Arterioscler Thromb Vasc Biol (2006) 0.93

Genetic variation in LPAL2, LPA, and PLG predicts plasma lipoprotein(a) level and carotid artery disease risk. Stroke (2010) 0.92

Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia. Hum Genet (2005) 0.92

TagSNP analyses of the PON gene cluster: effects on PON1 activity, LDL oxidative susceptibility, and vascular disease. J Lipid Res (2006) 0.92

Genomics of the NF-κB signaling pathway: hypothesized role in ovarian cancer. Cancer Causes Control (2011) 0.91

Linkage and association of phospholipid transfer protein activity to LASS4. J Lipid Res (2011) 0.91

Pharmacogenetics of paraoxonase activity: elucidating the role of high-density lipoprotein in disease. Pharmacogenomics (2013) 0.91

J. Maxwell Chamberlain Memorial Paper for congenital heart surgery. Deep hypothermic circulatory arrest does not impair neurodevelopmental outcome in school-age children after infant cardiac surgery. Ann Thorac Surg (2010) 0.91

Bias of allele-sharing linkage statistics in the presence of intermarker linkage disequilibrium. BMC Genet (2005) 0.90

National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health: August 24-26, 2009. NIH Consens State Sci Statements (2009) 0.90

Identification of a prostate cancer susceptibility locus on chromosome 7q11-21 in Jewish families. Proc Natl Acad Sci U S A (2004) 0.89

Pharmacogenomic considerations of the paraoxonase polymorphisms. Pharmacogenomics (2002) 0.88

Dietary cholesterol increases paraoxonase 1 enzyme activity. J Lipid Res (2012) 0.88

Oligogenic segregation analysis of hereditary prostate cancer pedigrees: evidence for multiple loci affecting age at onset. Int J Cancer (2003) 0.87

Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. Am J Hum Genet (2013) 0.87