Presentation
Scientific Publications
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2026
GDIv2: improving variant selection from human exomes., Bioinform Adv
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2026
Human LFA-1 governs T cell immune surveillance of the skin., Sci Immunol
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2025
A promoter variant underlying Wiskott-Aldrich syndrome in two kindreds., J Hum Immun
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2025
Human LY9 governs CD4 T cell IFN-γ immunity to ., Sci Immunol
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2024
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is ca..., J Clin Invest
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2024
Helper T cell immunity in humans with inherited CD4 deficiency., J Exp Med
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2024
Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 o..., J Clin Invest
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2021
Taking population stratification into account by local permutations in rare-v..., Genet Epidemiol
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2021
Detection of homozygous and hemizygous complete or partial exon deletions by ..., NAR Genom Bioinform
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2020
Common homozygosity for predicted loss-of-function variants reveals both redu..., Proc Natl Acad Sci U S A
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2020
Inherited human IFN-γ deficiency underlies mycobacterial disease., J Clin Invest
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2019
Homozygosity for P1104A underlies tuberculosis in about 1% of patients in a ..., Proc Natl Acad Sci U S A