Area of research
Genetics · Gastroenterology
Research interest
Research interests include Genomics and Rare Diseases, Celiac Disease Research and Management, Digestive system and related health, and Cancer Genomics and Diagnostics.
The Genetic Architecture of Congenital Diarrhea and Enteropathy
<i>EPCAM</i>mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins
A Novel Familial Mutation in the PCSK1 Gene That Alters the Oxyanion Hole Residue of Proprotein Convertase 1/3 and Impairs Its Enzymatic Activity
Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and Other Endocrinopathies in a Pediatric Cohort
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration