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Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy
. 17.
2021
PEA15 loss of function and defective cerebral development in the domestic cat
. 16.
2020
Admixture mapping reveals evidence of differential multiple sclerosis risk by genetic ancestry
. 15.
2019
Loss of thymidine kinase 1 inhibits lung cancer growth and metastatic attributes by reducing GDF15 expression
. 15.
2019
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations
. 15.
2019
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
. 14.
2018
Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus
. 14.
2018
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus
. 13.
2017
The RhoJ-BAD signaling network: An Achilles’ heel for BRAF mutant melanomas
. 13.
2017
Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African ancestry anthropometry genetics consortium
. 13.
2017
GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway
. 13.
2017
Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD
. 12.
2016
Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology
. 12.
2016
Wnt5a Signals through DVL1 to Repress Ribosomal DNA Transcription by RNA Polymerase I
. 12.
2016
Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease
. 12.
2016
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
. 12:e1005963.
2016
A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4
. 12.
2016
Coronary Artery Disease Associated Transcription Factor TCF21 Regulates Smooth Muscle Precursor Cells That Contribute to the Fibrous Cap.
. 11:e1005155.
2015
A Meta-analysis of Gene Expression Signatures of Blood Pressure and Hypertension
. 11.
2015
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus
. 11.
2015
Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND)
. 11.
2015
Motor and Sensory Deficits in the teetering Mice Result from Mutation of the ESCRT Component HGS
. 11.
2015
Systems Genetics Reveals the Functional Context of PCOS Loci and Identifies Genetic and Molecular Mechanisms of Disease Heterogeneity
. 11.
2015
Meta-Analysis of Genome-Wide Association Studies in African Americans Provides Insights into the Genetic Architecture of Type 2 Diabetes
. 10.
2014
MicroRNAs Located in the Hox Gene Clusters Are Implicated in Huntington's Disease Pathogenesis
. 10.
2014
ATRA-Induced Cellular Differentiation and CD38 Expression Inhibits Acquisition of BCR-ABL Mutations for CML Acquired Resistance
. 10.
2014
Deletion of a Conserved cis-Element in the Ifng Locus Highlights the Role of Acute Histone Acetylation in Modulating Inducible Gene Transcription
. 10.
2014
Glutamate Receptor Gene GRIN2A, Coffee, and Parkinson Disease
. 10.
2014
Retinoic Acid-Related Orphan Receptor γ (RORγ): A Novel Participant in the Diurnal Regulation of Hepatic Gluconeogenesis and Insulin Sensitivity
. 10.
2014
Preferential Binding to Elk-1 by SLE-Associated IL10 Risk Allele Upregulates IL10 Expression
. 9.
2013
VAPB/ALS8 MSP Ligands Regulate Striated Muscle Energy Metabolism Critical for Adult Survival in Caenorhabditis elegans
. 9.
2013
Genome-Wide Association of Body Fat Distribution in African Ancestry Populations Suggests New Loci
. 9.
2013
Genome-Wide DNA Methylation Analysis of Systemic Lupus Erythematosus Reveals Persistent Hypomethylation of Interferon Genes and Compositional Changes to CD4+ T-cell Populations
. 9.
2013
A Dual Role for SOX10 in the Maintenance of the Postnatal Melanocyte Lineage and the Differentiation of Melanocyte Stem Cell Progenitors
. 9.
2013
Trans-Ancestral Studies Fine Map the SLE-Susceptibility Locus TNFSF4
. 9.
2013
Genome-Wide Association Study and Gene Expression Analysis Identifies CD84 as a Predictor of Response to Etanercept Therapy in Rheumatoid Arthritis
. 9.
2013
Admixture Mapping in Lupus Identifies Multiple Functional Variants within IFIH1 Associated with Apoptosis, Inflammation, and Autoantibody Production
. 9.
2013
A Heterogeneous Mixture of F-Series Prostaglandins Promotes Sperm Guidance in the Caenorhabditis elegans Reproductive Tract
. 9.
2013
A Systematic Mapping Approach of 16q12.2/FTO and BMI in More Than 20,000 African Americans Narrows in on the Underlying Functional Variation: Results from the Population Architecture using Genomics and Epidemiology (PAGE) Study
. 9.
2013
Huntington's Disease Induced Cardiac Amyloidosis Is Reversed by Modulating Protein Folding and Oxidative Stress Pathways in the Drosophila Heart
. 9:e1004024-e1004024.
2013
MicroRNA-3148 Modulates Allelic Expression of Toll-Like Receptor 7 Variant Associated with Systemic Lupus Erythematosus
. 9.
2013
Enrichment of HP1a on Drosophila Chromosome 4 Genes Creates an Alternate Chromatin Structure Critical for Regulation in this Heterochromatic Domain
. 8.
2012
Genetic Modulation of Lipid Profiles following Lifestyle Modification or Metformin Treatment: The Diabetes Prevention Program
. 8.
2012
Rates of Gyrase Supercoiling and Transcription Elongation Control Supercoil Density in a Bacterial Chromosome
. 8.
2012
The chicken frizzle feather is due to an α-Keratin (KRT75) mutation that causes a defective rachis
. 8.
2012
Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation
. 8.
2012
Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis
. 8.
2012
Allelic variation and differential expression of the mSIN3A histone deacetylase complex gene Arid4b promote mammary tumor growth and metastasis
. 8.
2012
Sequence-specific targeting of dosage compensation in Drosophila favors an active chromatin context
. 8.
2012
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: A multi-ethnic meta-analysis of 45,891 individuals
. 8.
2012
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDgene database
. 8.
2012
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases
. 8.
2012
A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap
. 7.
2011
Hierarchical generalized linear models for multiple groups of rare and common variants: Jointly estimating group and Individual-Variant effects
. 7.
2011
The NF1 gene contains hotspots for L1 endonuclease-dependent De Novo insertion
. 7.
2011
Positional cloning of a type 2 diabetes quantitative trait locus; Tomosyn-2, a negative regulator of insulin secretion
. 7.
2011
Analysis of dna methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation
. 7.
2011
Gamma-tubulin is required for bipolar spindle assembly and for proper kinetochore microtubule attachments during prometaphase i in drosophila oocytes
. 7.
2011
Genome-wide gene-environment study identifies glutamate receptor gene grin2a as a parkinson's disease modifier gene via interaction with coffee
. 7.
2011
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections
. 7.
2011
Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility
. 7.
2011
Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.
. 7:e1002079.
2011
Beyond missing heritability: Prediction of complex traits
. 7.
2011
The exocyst protein sec10 interacts with polycystin-2 and knockdown causes PKD-phenotypes
. 7.
2011
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
. 7:e1001323.
2011
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits
. 7.
2011
A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for crohn's disease and celiac disease
. 7.
2011
CTCF-dependent chromatin bias constitutes transient epigenetic memory of the mother at the H19-igf2 imprinting control region in prospermatogonia
. 6.
2010
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer
. 6:1-12.
2010
A microarray-based genetic screen for yeast chronological aging factors
. 6.
2010
Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension
. 6:1-11.
2010
Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging
. 5.
2009
Interactions between cells with distinct mutations in c-MYC and Pten in prostate cancer
. 5.
2009
The role of geography in human adaptation
. 5.
2009
A genome-wide association study of pulmonary function measures in the framingham heart study
. 5.
2009
An african ancestry-specific allele of CTLA4 confers protection against rheumatoid arthritis in african americans
. 5.
2009
Retraction: an African ancestry-specific allele of CTLA4 confers protection against rheumatoid arthritis in African Americans.
. 5.
2009
The ataxia (ax
J
) mutation causes abnormal GABA
A
receptor turnover in mice
. 5.
2009
Murine Dishevelled 3 Functions in Redundant Pathways with Dishevelled 1 and 2 in Normal Cardiac Outflow Tract, Cochlea, and Neural Tube Development
. 4:e1000259-e1000259.
2008
Evaluating statistical methods using plasmode data sets in the age of massive public databases: An illustration using false discovery rates
. 4.
2008
The ets-related transcription factor GABP directs bidirectional transcription
. 3:2247-2255.
2007
A Dinucleotide Deletion in CD24 Confers Protection against Autoimmune Diseases
. 3:e49-e49.
2007
Identification of two independent risk factors for lupus within the MHC in United Kingdom families
. 3:2109-2121.
2007
Regional admixture mapping and structured association testing: Conceptual unification and an extensible general linear model
. 2:1254-1264.
2006
Regional admixture mapping and structured association testing: conceptual unification and an extensible general linear model.
. 2.
2006
Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice
. 1:0205-0212.
2005
Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function.
. 1.
2005
Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function
. 1:0480-0488.
2005
Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated Variants
. 8:e1002707-e1002707.
Identity
International Standard Serial Number (issn)
1553-7390
Electronic International Standard Serial Number (eissn)
1553-7404