Area of research
Genetics · Epidemiology
Research interest
Research interests include Virology and Viral Diseases, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, and SARS-CoV-2 and COVID-19 Research.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome