Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, and Muscle Physiology and Disorders.
Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis
Characteristics and Predictive Value of Blood Transcriptome Signature in Males with Autism Spectrum Disorders