Lista de obras - Aurélie Cobat - Dominio Público Uruguay

A General Efficient and Flexible Approach for Genome-Wide Association Analyses of Imputed Genotypes in Family-Based Designs

artículo científico publicado en 2014

A Missense LRRK2 Variant Is a Risk Factor for Excessive Inflammatory Responses in Leprosy

artículo científico publicado en 2016

A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy.

artículo científico publicado en 2017

A genome-wide case-only test for the detection of digenic inheritance in human exomes

artículo científico publicado en 2020

A major gene controls leprosy susceptibility in a hyperendemic isolated population from north of Brazil

artículo científico publicado en 2010

A major gene effect controls resistance to caries

artículo científico publicado en 2011

A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients

artículo científico publicado en 2016

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

artículo científico publicado en 2017

Association of TNFSF8 regulatory variants with excessive inflammatory responses but not leprosy per se.

artículo científico publicado en 2014

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

artículo científico publicado en 2020

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

artículo científico publicado en 2010

Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients

artículo científico publicado en 2024

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis

artículo científico publicado en 2017

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

artículo científico publicado en 2018

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

artículo científico publicado en 2018

CUBN and NEBL common variants in the chromosome 10p13 linkage region are associated with multibacillary leprosy in Vietnam

artículo científico publicado en 2014

Combined linkage and association studies show that HLA class II variants control levels of antibodies against Epstein-Barr virus antigens

artículo científico publicado en 2014

Deciphering the genetic control of gene expression following Mycobacterium leprae antigen stimulation.

artículo científico publicado en 2017

Deep resequencing identifies candidate functional genes in leprosy GWAS loci

artículo científico publicado en 2021

Determinants of condom use and heterosexual multiple sexual partnership in French Antilles and French Guiana

artículo científico publicado en 2008

Exome and genome sequencing for inborn errors of immunity

artículo científico publicado en 2016

Family-based genome-wide association study of leprosy in Vietnam

scientific article published on 18 May 2020

Gene set signature of reversal reaction type I in leprosy patients

artículo científico publicado en 2013

Genetics of leprosy reactions: an overview.

artículo científico

HCV-Associated Liver Fibrosis and HSD17B13

artículo científico publicado en 2018

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

scientific article published on 22 September 2020

High heritability of antimycobacterial immunity in an area of hyperendemicity for tuberculosis disease

artículo científico publicado en 2010

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

scientific article published on 08 May 2019

Host genomics and control of tuberculosis infection

artículo científico publicado en 2013

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

artículo científico publicado en 2015

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

artículo científico publicado en 2015

Human genetics of HCV infection phenotypes in the era of direct-acting antivirals

artículo científico publicado en 2020

Human genetics of tuberculosis

artículo científico publicado en 2013

Identification of a major locus, TNF1, that controls BCG-triggered tumor necrosis factor production by leukocytes in an area hyperendemic for tuberculosis

artículo científico publicado en 2013

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing

artículo científico publicado en 2019

Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study

artículo científico publicado en 2015

Impact of age and sex on mycobacterial immunity in an area of high tuberculosis incidence.

artículo científico publicado en 2010

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

artículo científico publicado en 2018

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

artículo científico publicado en 2019

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds

artículo científico publicado en 2013

Inherited IL-18BP deficiency in human fulminant viral hepatitis.

artículo científico publicado en 2019

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

artículo científico publicado en 2017

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

artículo científico publicado en 2016

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations

artículo científico publicado en 2015

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

artículo científico publicado en 2008

NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

artículo científico publicado en 2011

Pauci- and Multibacillary Leprosy: Two Distinct, Genetically Neglected Diseases

artículo científico publicado en 2016

Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of Male HIV-Infected Patients

artículo científico publicado en 2016

Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco

scientific article published on 15 August 2019

Refined association of melanoma differentiation-associated gene 5 variants with spontaneous hepatitis C virus clearance in Egypt

artículo científico publicado en 2015

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

artículo científico publicado en 2010

SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

The Maximum-Likelihood-Binomial method revisited: a robust approach for model-free linkage analysis of quantitative traits in large sibships

article

The complex pattern of genetic associations of leprosy with HLA class I and class II alleles can be reduced to four amino acid positions

artículo científico publicado en 2020

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

artículo científico publicado en 2024

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

artículo científico publicado en 2022

Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities

artículo científico publicado en 2014

Tuberculin skin test reactivity is dependent on host genetic background in Colombian tuberculosis household contacts

artículo científico publicado en 2012

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

artículo científico publicado en 2016

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

artículo científico publicado en 2015

Lista de obras de Aurélie Cobat

A General Efficient and Flexible Approach for Genome-Wide Association Analyses of Imputed Genotypes in Family-Based Designs

A Missense LRRK2 Variant Is a Risk Factor for Excessive Inflammatory Responses in Leprosy

A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy.

A genome-wide case-only test for the detection of digenic inheritance in human exomes

A major gene controls leprosy susceptibility in a hyperendemic isolated population from north of Brazil

A major gene effect controls resistance to caries

A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

Association of TNFSF8 regulatory variants with excessive inflammatory responses but not leprosy per se.

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

CUBN and NEBL common variants in the chromosome 10p13 linkage region are associated with multibacillary leprosy in Vietnam

Combined linkage and association studies show that HLA class II variants control levels of antibodies against Epstein-Barr virus antigens

Deciphering the genetic control of gene expression following Mycobacterium leprae antigen stimulation.

Deep resequencing identifies candidate functional genes in leprosy GWAS loci

Determinants of condom use and heterosexual multiple sexual partnership in French Antilles and French Guiana

Exome and genome sequencing for inborn errors of immunity

Family-based genome-wide association study of leprosy in Vietnam

Gene set signature of reversal reaction type I in leprosy patients

Genetics of leprosy reactions: an overview.

HCV-Associated Liver Fibrosis and HSD17B13

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

High heritability of antimycobacterial immunity in an area of hyperendemicity for tuberculosis disease

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

Host genomics and control of tuberculosis infection

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Human genetics of HCV infection phenotypes in the era of direct-acting antivirals

Human genetics of tuberculosis

Identification of a major locus, TNF1, that controls BCG-triggered tumor necrosis factor production by leukocytes in an area hyperendemic for tuberculosis

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing

Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study

Impact of age and sex on mycobacterial immunity in an area of high tuberculosis incidence.

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds

Inherited IL-18BP deficiency in human fulminant viral hepatitis.

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

Pauci- and Multibacillary Leprosy: Two Distinct, Genetically Neglected Diseases

Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of Male HIV-Infected Patients

Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco

Refined association of melanoma differentiation-associated gene 5 variants with spontaneous hepatitis C virus clearance in Egypt

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

The Maximum-Likelihood-Binomial method revisited: a robust approach for model-free linkage analysis of quantitative traits in large sibships

The complex pattern of genetic associations of leprosy with HLA class I and class II alleles can be reduced to four amino acid positions

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities

Tuberculin skin test reactivity is dependent on host genetic background in Colombian tuberculosis household contacts

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants