Area of research
Molecular Biology · Cardiology and Cardiovascular Medicine
Research interest
Research focused on Nemaline myopathy and Transcriptome, with related work in Congenital myopathy, Characterization (materials science), Myopathy. Notable publications include 'Improving genetic diagnosis in Mendelian disease with transcriptome sequencing', 'Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy', and 'Congenital Titinopathy: Comprehensive characterization and pathogenic insights'.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <i>TNNT3</i> splice variant
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
Expanding the phenotype of GMPPB mutations
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy