Area of research
Genetics · Neurology
Research interest
Research interests include Parkinson's Disease Mechanisms and Treatments, Genomics and Rare Diseases, Lysosomal Storage Disorders Research, and Genomic variations and chromosomal abnormalities.
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson’s disease
Brain malformations and seizures by impaired chaperonin function of TRiC
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease risk
Genetics and Pathogenesis of Parkinson's Syndrome
<scp><i>ANKLE2</i></scp>‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
The expanding neurological phenotype of <i>DNM1L</i>-related disorders
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
Use of Exome Sequencing for Infants in Intensive Care Units
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
Missense variants in the middle domain of<i>DNM1L</i>in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in<i>Drosophila</i>