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The human Major Histocompatibility Complex as a paradigm in genomics research.
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- Briefings in Functional Genomics & Proteomics, 2009, v. 8, n. 5, p. 379, doi. 10.1093/bfgp/elp010
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- Article
Insights into the nature and consequences of our variable genome.
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- Briefings in Functional Genomics & Proteomics, 2009, v. 8, n. 5, p. 343, doi. 10.1093/bfgp/elp039
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- Article
Understanding human genetic variation in the era of high-throughput sequencing.
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- EMBO Reports, 2010, v. 11, n. 9, p. 650, doi. 10.1038/embor.2010.126
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- Article
An immune dysfunction score for stratification of patients with acute infection based on whole-blood gene expression.
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- Science Translational Medicine, 2022, v. 14, n. 669, p. 1, doi. 10.1126/scitranslmed.abq4433
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- Article
Epigenomic analysis reveals a dynamic and context-specific macrophage enhancer landscape associated with innate immune activation and tolerance.
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- Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02702-1
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- Article
Association between age and the host response in critically ill patients with sepsis.
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- Critical Care, 2022, v. 26, n. 1, p. 1, doi. 10.1186/s13054-022-04266-9
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- Article
Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders.
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- Journal of Clinical Immunology, 2021, v. 41, n. 6, p. 1315, doi. 10.1007/s10875-021-01050-2
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- Article
Pre-existing asthma as a comorbidity does not modify cytokine responses and severity of COVID-19.
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- Allergy, Asthma & Clinical Immunology, 2021, v. 17, n. 1, p. 1, doi. 10.1186/s13223-021-00569-8
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- Article
Regulatory polymorphisms underlying complex disease traits.
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- Journal of Molecular Medicine, 2005, v. 83, n. 2, p. 97, doi. 10.1007/s00109-004-0603-7
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- Article
Assessment of an Antibody-in-Lymphocyte Supernatant Assay for the Etiological Diagnosis of Pneumococcal Pneumonia in Children.
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- Frontiers in Cellular & Infection Microbiology, 2020, v. 10, p. 1, doi. 10.3389/fcimb.2019.00459
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- Article
COMBATdb: a database for the COVID-19 Multi-Omics Blood ATlas.
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- Nucleic Acids Research, 2023, v. 51, n. D1, p. D896, doi. 10.1093/nar/gkac1019
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- Article
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
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- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18925-4
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- Article
Context-specific regulation of surface and soluble IL7R expression by an autoimmune risk allele.
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- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12393-1
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- Article
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0651-9
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- Article
XGR software for enhanced interpretation of genomic summary data, illustrated by application to immunological traits.
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- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0384-y
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- Article
Characterisation of the global transcriptional response to heat shock and the impact of individual genetic variation.
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- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0345-5
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- Article
Severe Malarial Anemia and Cerebral Malaria Are Associated with Different Tumor Necrosis Factor...
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- Journal of Infectious Diseases, 1999, v. 179, n. 1, p. 287, doi. 10.1086/314533
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- Article
Transcriptomic Signatures in Sepsis and a Differential Response to Steroids. From the VANISH Randomized Trial.
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- 2019
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- Publication type:
- journal article
Using de novo assembly to identify structural variation of eight complex immune system gene regions.
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- PLoS Computational Biology, 2021, v. 17, n. 8, p. 1, doi. 10.1371/journal.pcbi.1009254
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- Article
Disruption of c-MYC Binding and Chromosomal Looping Involving Genetic Variants Associated With Ankylosing Spondylitis Upstream of the RUNX3 Promoter.
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- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.741867
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- Article
Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31626-4
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- Article
Genomic mapping of the MHC transactivator CIITA using an integrated ChIP-seq and genetical genomics approach.
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- Genome Biology, 2014, v. 15, n. 10, p. 1, doi. 10.1186/s13059-014-0494-z
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- Article
Associations of HLA alleles with specific language impairment.
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- Journal of Neurodevelopmental Disorders, 2014, v. 6, n. 1, p. 1
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- Article
Genome-wide analysis identifies a role for common copy number variants in specific language impairment.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1370, doi. 10.1038/ejhg.2014.296
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- Article
Fine mapping genetic determinants of the highly variably expressed MHC gene ZFP57.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 568, doi. 10.1038/ejhg.2013.244
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- Article
Genomic Insights into Myasthenia Gravis Identify Distinct Immunological Mechanisms in Early and Late Onset Disease.
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- Annals of Neurology, 2021, v. 90, n. 3, p. 455, doi. 10.1002/ana.26169
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- Article
AltHapAlignR: improved accuracy of RNA-seq analyses through the use of alternative haplotypes.
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- Bioinformatics, 2018, v. 34, n. 14, p. 2401, doi. 10.1093/bioinformatics/bty125
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- Article
Chromosome conformation capture approaches to investigate 3D genome architecture in Ankylosing Spondylitis.
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- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1129207
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- Article
Interferon-Induced Transmembrane Protein 3 Genetic Variant rs12252-C Associated With Disease Severity in Coronavirus Disease 2019.
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- Journal of Infectious Diseases, 2020, v. 222, n. 1, p. 34, doi. 10.1093/infdis/jiaa224
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- Article
Interferon-Induced Transmembrane Protein 3 Genetic Variant rs12252-C Associated With Disease Severity in Coronavirus Disease 2019.
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- 2020
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- Publication type:
- journal article
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
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- Developmental Medicine & Child Neurology, 2014, v. 56, n. 4, p. 346, doi. 10.1111/dmcn.12294
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- Article
Shared and Distinct Aspects of the Sepsis Transcriptomic Response to Fecal Peritonitis and Pneumonia.
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- 2017
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- Publication type:
- journal article
Genetic determinants of HSP70 gene expression following heat shock.
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- Human Molecular Genetics, 2010, v. 19, n. 24, p. 4939, doi. 10.1093/hmg/ddq418
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- Article
An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6.
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- Human Molecular Genetics, 2010, v. 19, n. 4, p. 720, doi. 10.1093/hmg/ddp530
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- Article
The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration.
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- Human Molecular Genetics, 2006, v. 15, n. 10, p. 1659, doi. 10.1093/hmg/ddl089
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- Article
Risk of nontyphoidal Salmonella bacteraemia in African children is modified by STAT4.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02398-z
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- Article
A community approach to mortality prediction in sepsis via gene expression analysis.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03078-2
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- Article
Genomic modulators of gene expression in human neutrophils.
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- Nature Communications, 2015, v. 6, n. 7, p. 7545, doi. 10.1038/ncomms8545
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- Article
Allele-specific repression of lymphotoxin-a by activated B cell factor-1.
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- Nature Genetics, 2004, v. 36, n. 4, p. 394, doi. 10.1038/ng1331
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- Article
In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading.
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- Nature Genetics, 2003, v. 33, n. 4, p. 469, doi. 10.1038/ng1124
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- Article
A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria.
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- Nature Genetics, 1999, v. 22, n. 2, p. 145, doi. 10.1038/9649
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- Article
A Common Variant Associated with Dyslexia Reduces Expression of the KIAA0319 Gene.
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- PLoS Genetics, 2009, v. 5, n. 3, p. 1, doi. 10.1371/journal.pgen.1000436
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- Article
Expression of the Multiple Sclerosis-Associated MHC Class II Allele HLA-DRB1*1501 Is Regulated by Vitamin D.
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- PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000369
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- Article
Transcriptomic Analysis of Inflammatory Cardiomyopathy Identifies Molecular Signatures of Disease and Informs in silico Prediction of a Network-Based Rationale for Therapy.
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- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.640837
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- Article
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40679-y
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- Article
Distinct HLA associations of LGI1 and CASPR2-antibody diseases.
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- 2018
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- Publication type:
- journal article
Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles.
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- Nature Genetics, 2012, v. 44, n. 5, p. 502, doi. 10.1038/ng.2205
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- Article
Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (-71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans.
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- Diabetes, 2009, v. 58, n. 8, p. 1929, doi. 10.2337/db09-0070
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- Article
Post-operative pain in children after day case surgery.
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- Pediatric Anesthesia, 1994, v. 4, n. 1, p. 45, doi. 10.1111/j.1460-9592.1994.tb00121.x
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- Article
Uncovering heterogeneity in sepsis: a comparative analysis of subphenotypes.
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- Intensive Care Medicine, 2023, v. 49, n. 11, p. 1360, doi. 10.1007/s00134-023-07239-w
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- Article