Presentation
Scientific Publications
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Journal (source)Proc Natl Acad Sci U S AGenome-wide detection of human variants that disrupt intronic branchpoints.
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Journal (source)Proc Natl Acad Sci U S A
Genome-wide detection of human intronic AG-gain variants located between spli...
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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)Am J Hum Genet
A computational approach for detecting physiological homogeneity in the midst...
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2021Journal (source)Sci Immunol
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life...
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2022Journal (source)Nature
Human genetic and immunological determinants of critical COVID-19 pneumonia.
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2023Journal (source)Genome Med
Rare predicted loss-of-function variants of type I IFN immunity genes are ass...