Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, RNA Research and Splicing, and Genetic Neurodegenerative Diseases.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration