Area of research
Molecular Biology · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Muscle Physiology and Disorders, RNA Research and Splicing, Cardiomyopathy and Myosin Studies, and Neurogenetic and Muscular Disorders Research.
Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations
POLRMT mutations impair mitochondrial transcription causing neurological disease
<scp>hnRNP L</scp> is essential for myogenic differentiation and modulates myotonic dystrophy pathologies
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy
Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens
The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies
CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States
The Pathogenesis and Therapy of Muscular Dystrophies
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency
Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis
Peripheral blood gene expression signature differentiates children with autism from unaffected siblings
The Co-Morbidity Burden of Children and Young Adults with Autism Spectrum Disorders
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis
Characteristics and Predictive Value of Blood Transcriptome Signature in Males with Autism Spectrum Disorders
A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish