Area of research
Genetics · Cellular and Molecular Neuroscience
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Reading and Literacy Development, and Genetic Neurodegenerative Diseases.
Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation
ADCY5–Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder
Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects
Caspase-8, association with Alzheimer’s Disease and functional analysis of rare variants
<i>ADCY5</i> -related dyskinesia
Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes
Genome‐wide linkage analyses of non‐Hispanic white families identify novel loci for familial late‐onset Alzheimer's disease
Gain‐of‐function <i>ADCY5</i> mutations in familial dyskinesia with facial myokymia
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)