Présentation
Publications scientifiques
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2026
Human LFA-1 governs T cell immune surveillance of the skin., Sci Immunol
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2022
The risk of COVID-19 death is much greater and age dependent with type I IFN ..., Proc Natl Acad Sci U S A
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2021
Detection of homozygous and hemizygous complete or partial exon deletions by ..., NAR Genom Bioinform
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2019
A deep intronic splice mutation of underlies hyper IgE syndrome by negative ..., Proc Natl Acad Sci U S A
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2019
Inherited IL-18BP deficiency in human fulminant viral hepatitis., J Exp Med
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2019
SeqTailor: a user-friendly webserver for the extraction of DNA or protein seq..., Nucleic Acids Res
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2018
Blacklisting variants common in private cohorts but not in public databases o..., Proc Natl Acad Sci U S A
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2018
Rescue of recurrent deep intronic mutation underlying cell type-dependent qua..., J Clin Invest
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2018
PopViz: a webserver for visualizing minor allele frequencies and damage predi..., Bioinformatics
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2018
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies., J Clin Invest
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2018
Incomplete penetrance for isolated congenital asplenia in humans with mutatio..., Proc Natl Acad Sci U S A
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2018
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Gene..., Front Immunol
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2016
Exome and genome sequencing for inborn errors of immunity., J Allergy Clin Immunol
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2016
Whole-exome sequencing to analyze population structure, parental inbreeding, ..., Proc Natl Acad Sci U S A
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2016
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS., N Engl J Med