Area of research
Cell Biology · Genetics
Research interest
Research interests include Skin and Cellular Biology Research, Inflammatory Bowel Disease, Inflammasome and immune disorders, and Genomics and Rare Diseases.
Pooled Sequencing of 531 Genes in Inflammatory Bowel Disease Identifies an Associated Rare Variant in BTNL2 and Implicates Other Immune Related Genes
Epithelial Inflammation Resulting from an Inherited Loss-of-Function Mutation in EGFR
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic
Acral Peeling Skin Syndrome Resulting from a Homozygous Nonsense Mutation in the <i><scp>CSTA</scp></i> Gene Encoding Cystatin A
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility