Presentation
Scientific Publications
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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)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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2020Journal (source)Science
Autoantibodies against type I IFNs in patients with life-threatening COVID-19.
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2021Journal (source)PLoS Genet
Genome-wide association study of resistance to Mycobacterium tuberculosis inf...
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2021Journal (source)NAR Genom Bioinform
Detection of homozygous and hemizygous complete or partial exon deletions by ...
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2025Journal (source)Genome Med
A human YEATS4 variant confers resistance to TST and IGRA conversion despite ...
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2021Journal (source)Nat Med
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
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2020Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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2020Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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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...