The main focus of my research was in utilising phenotype data to diagnose diseases, discover novel disease genes, and identify suitable animal models for mechanistic and therapeutic studies.

In collaboration with Professor Peter Robinson, Charite University, Berlin and fellow members of the Monarch Initative, I led the development of a phenotype-aware approach to the analysis of disease genomes and exomes: the Exomiser software suite.

As part of the International Mouse Phenotyping Consortium, I led the production of disease pages that highlight the phenotypic similarites between the phenotyped mice and rare diseases.