Scientific Publications
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2025Journal (source)Genome Med
A human YEATS4 variant confers resistance to TST and IGRA conversion despite ...
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2025Journal (source)Am J Hum Genet
MosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing c...
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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)J Exp Med
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I 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)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
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus an...
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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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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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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)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)PLoS Genet
Genome-wide association study of resistance to Mycobacterium tuberculosis inf...
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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
Autoantibodies against type I IFNs in patients with life-threatening COVID-19.
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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)PLoS Pathog
The complex pattern of genetic associations of leprosy with HLA class I and c...
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2020Journal (source)PLoS Pathog
Family-based genome-wide association study of leprosy in Vietnam.
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2019Journal (source)Front Genet
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibro...
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2019Journal (source)PLoS ONE
Prevalence and risk factors for latent tuberculosis infection among healthcar...
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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)J. Exp. Med.
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reacti...
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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.
Homozygosity for P1104A underlies tuberculosis in about 1% of patients in a ...
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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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2018Journal (source)Sci Immunol
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous...
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2018Journal (source)N. Engl. J. Med.
HCV-Associated Liver Fibrosis and HSD17B13.
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2018Journal (source)J. Clin. Invest.
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
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2018Journal (source)Cell
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
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2017Journal (source)Sci Rep
An eQTL variant of ZXDC is associated with IFN-γ production following Mycobac...
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2017Journal (source)PLoS Genet.
Deciphering the genetic control of gene expression following Mycobacterium le...
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2017Journal (source)Am. J. Med. Genet. A
Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associate...
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2017Journal (source)J. Am. Coll. Cardiol.
Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.
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Journal (source)Antimicrob. Agents Chemother.
Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of Male...
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2017Journal (source)PLoS Genet.
A genome wide association study identifies a lncRna as risk factor for pathol...
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Journal (source)J. Allergy Clin. Immunol.
Exome and genome sequencing for inborn errors of immunity.
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2016Journal (source)Oncotarget
coding variants are associated with a high risk of hepatocellular carcinoma o...
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2016Journal (source)Hepatology
A new 3p25 locus is associated with liver fibrosis progression in human immun...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Whole-exome sequencing to analyze population structure, parental inbreeding, ...
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2016Journal (source)PLoS Negl Trop Dis
Pauci- and Multibacillary Leprosy: Two Distinct, Genetically Neglected Diseases.
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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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2016Journal (source)PLoS Negl Trop Dis
A Missense LRRK2 Variant Is a Risk Factor for Excessive Inflammatory Response...
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2015Journal (source)J. Infect. Dis.
Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered...
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2015Journal (source)PLoS ONE
Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- o...