Area of research
Molecular Biology · Genetics
Research interest
Research interests include Congenital heart defects research, Congenital Heart Disease Studies, Genomics and Rare Diseases, and Cardiomyopathy and Myosin Studies.
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases
Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants
Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunction
Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome
Global implementation of genomic medicine: We are not alone
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan‐like syndromes featuring aortopathy
Turner Syndrome in Girls Presenting with Coarctation of the Aorta
Progressive Aortic Dilation Associated With <i>ACTA2</i> Mutations Presenting in Infancy
Phenotype of a patient with contiguous deletion of <i>TBX5</i> and <i>TBX3</i>: Expanding the disease spectrum
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks