Presentation
Scientific Publications
-
2024Journal (source)HGG AdvLack of association between classical HLA genes and asymptomatic SARS-CoV-2 i...
-
Journal (source)Proc Natl Acad Sci U S A
A genome-wide case-only test for the detection of digenic inheritance in huma...
-
2020Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
-
2020Journal (source)Science
Autoantibodies against type I IFNs in patients with life-threatening COVID-19.
-
2021Journal (source)PLoS Genet
Genome-wide association study of resistance to Mycobacterium tuberculosis inf...
-
2021Journal (source)NAR Genom Bioinform
Detection of homozygous and hemizygous complete or partial exon deletions by ...
-
2021Journal (source)Sci Immunol
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected indi...
-
2021Journal (source)Sci Immunol
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life...
-
2022Journal (source)Nature
Human genetic and immunological determinants of critical COVID-19 pneumonia.
-
2023Journal (source)Genome Med
Rare predicted loss-of-function variants of type I IFN immunity genes are ass...
-
2024Journal (source)HGG Adv
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 i...
-
2024Journal (source)J Exp Med
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I...
-
2021Journal (source)Nat Med
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
-
2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
-
2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
-
2020Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
-
2020Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
-
2020Journal (source)J. Clin. Invest.
Inherited human IFN-γ deficiency underlies mycobacterial disease.
-
Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Whole-exome sequencing to analyze population structure, parental inbreeding, ...
-
2019Journal (source)J. Clin. Invest.
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
-
2019Journal (source)J. Clin. Immunol.
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Defici...
-
2019Journal (source)Hum. Mol. Genet.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by ...