Presentation
Scientific 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)HGG Adv
Response to Karp-Tatham et al.
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2024Journal (source)J Exp Med
Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalit...
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2024Journal (source)HGG Adv
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 i...
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2024Journal (source)HGG Adv
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 i...
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2024Journal (source)N Engl J Med
Anti-Interleukin-23 Autoantibodies in Adult-Onset Immunodeficiency.
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2024Journal (source)J Exp Med
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-...
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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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2023Journal (source)J Exp Med
Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis...
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Journal (source)Annu Rev Biomed Data Sci
Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants.
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2023Journal (source)Genome Med
Rare predicted loss-of-function variants of type I IFN immunity genes are ass...
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Journal (source)Proc Natl Acad Sci U S A
Genome-wide detection of human variants that disrupt intronic branchpoints.
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2022Journal (source)J Exp Med
Recessive 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 A
The risk of COVID-19 death is much greater and age dependent with type I IFN ...
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2022Journal (source)Nature
Human genetic and immunological determinants of critical COVID-19 pneumonia.
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2021Journal (source)Genet Epidemiol
Taking population stratification into account by local permutations in rare-v...
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2021Journal (source)Sci Rep
Controlling for human population stratification in rare variant association s...
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2021Journal (source)Sci Immunol
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected indi...
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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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2021Journal (source)J Clin Invest
Association of rare predicted loss-of-function variants of influenza-related ...
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2021Journal (source)Nat Med
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
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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)NAR Genom Bioinform
Detection of homozygous and hemizygous complete or partial exon deletions by ...
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2021Journal (source)Sci Immunol
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark o...
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2021Journal (source)Sci Immunol
Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark o...
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2021Journal (source)PLoS Genet
Genome-wide association study of resistance to Mycobacterium tuberculosis inf...
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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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Journal (source)Proc Natl Acad Sci U S A
A genome-wide case-only test for the detection of digenic inheritance in huma...
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2020Journal (source)J Pediatr
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Common homozygosity for predicted loss-of-function variants reveals both redu...
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2019Journal (source)Nat. Med.
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 a...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form ...
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2018Journal (source)J Allergy Clin Immunol
Epithelial barrier dysfunction in desmoglein-1 deficiency.
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2017Journal (source)J Allergy Clin Immunol
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr...