Area of research
Molecular Biology · Genetics
Research interest
Research focused on Duchenne muscular dystrophy and Exon, with related work in Missense mutation, Tetralogy of Fallot, Craniosynostosis. Notable publications include 'Prevalence of Duchenne and Becker Muscular Dystrophies in the United States', 'Maternal periconceptional alcohol consumption and congenital heart defects', and 'A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis'.
Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non‐ambulatory males with Duchenne muscular dystrophy from <scp>MD STAR<i>net</i></scp>
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis
Association of genetic mutations and loss of ambulation in childhood‐onset dystrophinopathy
Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1
Prevalence of Duchenne and Becker Muscular Dystrophies in the United States
Maternal periconceptional alcohol consumption and congenital heart defects