Area of research
Genetics · Cellular and Molecular Neuroscience
Research interest
Research interests include Dystonia, Microphthalmia, Biology, Exome sequencing, Movement disorders, and Anophthalmia.
The Spectrum of Neurologic Phenotypes Associated With <scp><i>NUS1</i></scp> Pathogenic Variants: A Comprehensive Case Series
Biallelic <scp><i>AOPEP</i></scp> Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
Monogenic variants in dystonia: an exome-wide sequencing study
The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm