Area of research
Genetics · Immunology
Research interest
Research interests include Genomics and Rare Diseases, Immunodeficiency and Autoimmune Disorders, Genetics and Neurodevelopmental Disorders, and Genomics and Phylogenetic Studies.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
The role of exome sequencing in newborn screening for inborn errors of metabolism
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70
Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation
Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia