Area of research
Molecular Biology · Genetics
Research interest
Research interests include RNA Research and Splicing, RNA modifications and cancer, RNA and protein synthesis mechanisms, and Genomics and Rare Diseases.
The debranching enzyme Dbr1 regulates lariat turnover and intron splicing
Human DBR1 deficiency impairs stress granule–dependent PKR antiviral immunity
Assessing predictions of the impact of variants on splicing in CAGI5
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection
Pathogenic variants that alter protein code often disrupt splicing
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy