subject area of
- Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations Journal Articles
- Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant Journal Articles
- DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients Journal Articles
- Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy Journal Articles
- PI3K Inhibitors Curtail MYC-Dependent Mutant p53 Gain-of-Function in Head and Neck Squamous Cell Carcinoma Journal Articles