Area of research
Infectious Diseases · Cardiology and Cardiovascular Medicine
Research interest
Research focused on Haploinsufficiency and RIPK1, with related work in Immunodeficiency, Hepatosplenomegaly, Necroptosis. Notable publications include 'Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2', 'Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease', and 'Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease'.
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
New onset acute symptomatic seizure and risk factors in coronavirus disease 2019: A retrospective multicenter study
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2