Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Congenital heart defects research, and Hedgehog Signaling Pathway Studies.
Impairments of cerebellar structure and function in a zebrafish KO of neuropsychiatric risk gene znf536
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism
Author response: Sequential phosphorylation of NDEL1 by the DYRK2-GSK3β complex is critical for neuronal morphogenesis
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development
Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1‐q44 duplication including the <i><scp>AKT3</scp></i> gene
Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation
Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders
The Sacred Disease: The Puzzling Genetics of Epileptic Disorders