PLoS Genetics

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 GABAA 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.