Area of research
Molecular Biology · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research, and RNA Research and Splicing.
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies
Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy
Myogenic Enhancers Regulate Expression of the Facioscapulohumeral Muscular Dystrophy-Associated <i>DUX4</i> Gene
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis