Resources & publications
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2017Journal (source)PLoS Genet.Deciphering the genetic control of gene expression following Mycobacterium le...
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2024Journal (source)J Exp Med
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus an...
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2024Journal (source)J Exp Med
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I...
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2022Journal (source)Nature
Human genetic and immunological determinants of critical COVID-19 pneumonia.
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2021Journal (source)J Exp Med
Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever...
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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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2016Journal (source)N. Engl. J. Med.
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
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Journal (source)Antimicrob. Agents Chemother.
Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of Male...
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2019Journal (source)Front Genet
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibro...
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2018Journal (source)N. Engl. J. Med.
HCV-Associated Liver Fibrosis and HSD17B13.
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2019Journal (source)Sci Immunol
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Blacklisting variants common in private cohorts but not in public databases o...
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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...
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2019Journal (source)J. Exp. Med.
Inherited IL-18BP deficiency in human fulminant viral hepatitis.
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Park...
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2019Journal (source)PLoS ONE
Prevalence and risk factors for latent tuberculosis infection among healthcar...