Area of research
Cellular and Molecular Neuroscience · Molecular Biology
Research interest
Research interests include Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Genetics and Neurodevelopmental Disorders, and Parkinson's Disease Mechanisms and Treatments.
Deleterious coding variation associated with autism is shared across ancestries
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Positive allosteric modulation of indoleamine 2,3-dioxygenase 1 restrains neuroinflammation
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons
Identification of rare de novo epigenetic variations in congenital disorders
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
Identification of rare <i>de novo</i> epigenetic variations in congenital disorders
Redefining the MED13L syndrome
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients