Presentation
My research is aimed at understanding the genetic causes and developmental mechanisms underlying craniofacial, cardiac and neurodevelopmental disorders.
Resources & publications
-
2019Journal (source)Hum. Mol. Genet.A purely quantitative form of partial recessive IFN-γR2 deficiency caused by ...
-
2019Journal (source)J. Clin. Immunol.
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Defici...
-
2019Journal (source)J. Clin. Invest.
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
-
Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Whole-exome sequencing to analyze population structure, parental inbreeding, ...
-
2020Journal (source)J. Clin. Invest.
Inherited human IFN-γ deficiency underlies mycobacterial disease.
-
2020Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
-
2020Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
-
2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
-
2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
-
2021Journal (source)Nat Med
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
-
2024Journal (source)J Exp Med
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I...