Area of research
Physiology · Genetics
Research interest
Research focused on Tuberous sclerosis and Subependymal giant cell astrocytoma, with related work in Autism spectrum disorder, Anxiety, Intellectual disability. Notable publications include 'TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study', 'Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas', and 'Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex'.
Bictegravir/emtricitabine/tenofovir alafenamide in clinical practice for people with HIV: final 24-month effectiveness and safety outcomes in key populations in the observational BICSTaR cohort
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex
Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype.
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study