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Author Details

Elaine F Remmers
1980
167
63
PMIDPaper TitleJournal TitlePublished Year
37256972Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome.N Engl J Med2023
34789453Severe delayed hypersensitivity reactions to IL-1 and IL-6 inhibitors link to common HLA-DRB1*15 alleles.Ann Rheum Dis2022
33021335Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2.Arthritis Rheumatol2021
32518111Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.Proc Natl Acad Sci U S A2020
31871193<i>HLA</i> and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry.Proc Natl Acad Sci U S A2020
32826979Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis.Communications Biology2020
32601469Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.Nat Immunol2020
32987090The systemic autoinflammatory diseases: Coming of age with the human genome.Journal of Allergy and Clinical Immunology2020
31376265Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever.Clinical and Experimental Rheumatology2019
29358286Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.Ann Rheum Dis2018
29609200IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis.Arthritis Rheumatol2018
29732714Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.Arthritis Rheumatol2018
28166214Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.Nat Genet2017
28544690Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.Arthritis Rheumatol2017
29390428Clinical and serological features of systemic sclerosis in a multicenter African American cohort: Analysis of the genome research in African American scleroderma patients clinical database.Medicine (Baltimore)2017
29404504Three variants in the nicotinamide adenine dinucleotide phosphate oxidase complex are associated with HCV-related liver damage.Hepatol Commun2017
27927641Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.Ann Rheum Dis2017
27507156Hypophosphatasia and the risk of atypical femur fractures: a case-control study.BMC Musculoskeletal Disorders2016
26829627Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.J Clin Invest2016
27217550A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers.Annals of the Rheumatic Diseases2016
27708262Evaluation of KIR3DL1/KIR3DS1 polymorphism in Behçet's disease.Genes and Immunity2016
27851916Systematic Analysis of Cell-to-Cell Expression Variation of T Lymphocytes in a Human Cohort Identifies Aging and Genetic Associations.Immunity2016
27559085Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.Proc Natl Acad Sci U S A2016
25227143Identification of possible pathogenic pathways in Behçet's disease using genome-wide association study data from two different populations.European Journal of Human Genetics2015
25708585Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred.Journal of Clinical Immunology2015
25585694Reply to Stoimenis et al.European Journal of Human Genetics2015
25907699Genetic architectures of seropositive and seronegative rheumatic diseases.Nature reviews. Rheumatology2015
26002026Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics.Current Opinion in Rheumatology2015
26598658HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.Proc Natl Acad Sci U S A2015
26347074The immunogenetics of Behçet's disease: A comprehensive review.Journal of Autoimmunity2015
25988971Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation.Arthritis and Rheumatology2015
25986216A polymorphism in CCR1/CCR3 is associated with narcolepsy.Brain Behav Immun2015
24552284Early-onset stroke and vasculopathy associated with mutations in ADA2.N Engl J Med2014
24821759Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity.Proc Natl Acad Sci U S A2014
23291587Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.Nature Genetics2013
22833538Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.Hum Mutat2013
23771924Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.J Clin Endocrinol Metab2013
23633568Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.Proc Natl Acad Sci U S A2013
22076633Identification of two new arthritis severity loci that regulate levels of autoantibodies, interleukin-1β, and joint damage in pristane- and collagen-induced arthritis.2012
22236196Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.N Engl J Med2012
21333602Effective sample size: Quick estimation of the effect of related samples in genetic case-control association analyses.2011
21437276A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs.PLoS Genet2011
21383967Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.PLoS Genet2011
20358582Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.Hum Mutat2010
20622878Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease.Nat Genet2010
20346247A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome.Clinical and Experimental Rheumatology2010
19934105Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.Annals of the Rheumatic Diseases2010
20453842Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.Nat Genet2010
20018009Data for Genetic Analysis Workshop 16 Problem 1, association analysis of rheumatoid arthritis data.BMC Proc2009
19549888Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.Cancer Res2009
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Broad Institute of Harvard and Massachusetts Institute of Technology (MIT)
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Brigham and Women's Hospital and Harvard Medical School
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