Area of research
Genetics · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Genomics and Rare Diseases, Cardiovascular Function and Risk Factors, Epilepsy research and treatment, and Cardiac Valve Diseases and Treatments.
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing
Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients
<i><scp>SLC</scp>6A1</i>variants identified in epilepsy patients reduce γ‐aminobutyric acid transport
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous<i> CACNA2D2</i> Variants
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis
Good laboratory practice for clinical next-generation sequencing informatics pipelines
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations
Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data