My research interests are largely focused upon elucidating the mechanisms of mutagenesis underlying human genetic disease, but include the exploration of genotype–phenotype relationships in various inherited conditions, as well as human evolutionary and population genetics.
研究方向
Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesRNA and protein synthesis mechanismsRNA modifications and cancerBlood Coagulation and Thrombosis Mechanisms
