Publications
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun 12, 2558 (2021).
Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain. J Clin Immunol (2021). doi:10.1007/s10875-021-01036-0
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 370, (2020).
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J Clin Invest 129, 1240-1256 (2019).