Presentation
My research aim is to identify the main genes and variants involved in the determinism of infectious phenotypes such as tuberculosis infection and SARS-CoV-2 related phenotypes. My research approach combines the search for common variants by genome-wide association study and for rare variants by next generation sequencing study. I am also involved in the development of statistical methods, since data analyses often raise methodological issues, and in particular in the development of approaches to improve and optimize the analysis of NGS data. My research interests lie at the interface of genetic epidemiology, biostatistics and bioinformatics.
Resources & publications
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2025Journal (source)Genome MedA human YEATS4 variant confers resistance to TST and IGRA conversion despite ...
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2025Journal (source)Am J Hum GenetMosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing c...
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2024Journal (source)J Exp MedAutoantibodies neutralizing type I IFNs underlie severe tick-borne encephalit...
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2023Journal (source)J Exp MedAutoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis...
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Journal (source)Annu Rev Biomed Data SciHuman Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants.
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2023Journal (source)Genome MedRare predicted loss-of-function variants of type I IFN immunity genes are ass...
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2021Journal (source)J Clin InvestAssociation of rare predicted loss-of-function variants of influenza-related ...
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2022Journal (source)J Exp MedRecessive inborn errors of type I IFN immunity in children with COVID-19 pneu...
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Journal (source)Proc Natl Acad Sci U S AThe risk of COVID-19 death is much greater and age dependent with type I IFN ...
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2022Journal (source)NatureHuman genetic and immunological determinants of critical COVID-19 pneumonia.
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2021Journal (source)Sci RepControlling for human population stratification in rare variant association s...
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2021Journal (source)Sci ImmunolX-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life...
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2021Journal (source)Sci ImmunolAutoantibodies neutralizing type I IFNs are present in ~4% of uninfected indi...
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2021Journal (source)Genet EpidemiolTaking population stratification into account by local permutations in rare-v...
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2021Journal (source)NAR Genom BioinformDetection of homozygous and hemizygous complete or partial exon deletions by ...
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2021Journal (source)Am J Hum GenetA computational approach for detecting physiological homogeneity in the midst...
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2021Journal (source)PLoS GenetGenome-wide association study of resistance to Mycobacterium tuberculosis inf...
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2020Journal (source)ScienceAutoantibodies against type I IFNs in patients with life-threatening COVID-19.
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2020Journal (source)ScienceInborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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Journal (source)Proc Natl Acad Sci U S AA genome-wide case-only test for the detection of digenic inheritance in huma...
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2020Journal (source)PLoS PathogThe complex pattern of genetic associations of leprosy with HLA class I and c...
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2020Journal (source)PLoS PathogFamily-based genome-wide association study of leprosy in Vietnam.
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Journal (source)Proc Natl Acad Sci U S AGenome-wide detection of human intronic AG-gain variants located between spli...
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2024Journal (source)HGG AdvLack of association between classical HLA genes and asymptomatic SARS-CoV-2 i...
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2020Journal (source)ScienceInborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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2019Journal (source)PLoS ONEPrevalence and risk factors for latent tuberculosis infection among healthcar...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Park...
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2019Journal (source)J. Exp. Med.Inherited IL-18BP deficiency in human fulminant viral hepatitis.
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients i...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.Blacklisting variants common in private cohorts but not in public databases o...
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2019Journal (source)Sci ImmunolTuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous...
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2018Journal (source)N. Engl. J. Med.HCV-Associated Liver Fibrosis and HSD17B13.
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2017Journal (source)PLoS Genet.Deciphering the genetic control of gene expression following Mycobacterium le...
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Journal (source)Antimicrob. Agents Chemother.Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of Male...
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2016Journal (source)N. Engl. J. Med.Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
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2020Journal (source)ScienceAuto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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2019Journal (source)Front GenetIdentification of an Endoglin Variant Associated With HCV-Related Liver Fibro...
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2021Journal (source)J Exp MedAuto-antibodies to type I IFNs can underlie adverse reactions to yellow fever...
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2022Journal (source)NatureHuman genetic and immunological determinants of critical COVID-19 pneumonia.
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2024Journal (source)J Exp MedIncontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I...
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2024Journal (source)J Exp MedGain-of-function human UNC93B1 variants cause systemic lupus erythematosus an...
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2024Journal (source)HGG AdvLack of association between classical HLA genes and asymptomatic SARS-CoV-2 i...
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2024Journal (source)N Engl J MedAnti-Interleukin-23 Autoantibodies in Adult-Onset Immunodeficiency.