Area of research
Clinical Biochemistry · Molecular Biology
Research interest
Research interests include Metabolism and Genetic Disorders, Metabolomics and Mass Spectrometry Studies, Ubiquitin and proteasome pathways, and Diet and metabolism studies.
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation
Use of Exome Sequencing for Infants in Intensive Care Units
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
Human genome meeting 2016
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
Lysinuric protein intolerance presenting with multiple fractures