Area of research
Genetics · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Genomics and Rare Diseases, Cardiomyopathy and Myosin Studies, Muscle Physiology and Disorders, and Genomic variations and chromosomal abnormalities.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability
Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy
Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy