Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetics and Neurodevelopmental Disorders, Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, and Neurogenetic and Muscular Disorders Research.
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Comparison of evoked potentials across four related developmental encephalopathies
Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies
Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
Multisite Study of Evoked Potentials in Rett Syndrome
Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure
<i>Int22h1/Int22h2</i> ‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy