My research interests are largely focused upon elucidating the mechanisms of mutagenesis underlying human genetic disease, but also include the study of the genotype–phenotype relationship in various inherited disorders, as well as human evolutionary and population genetics.
I have published nearly 600 papers in the field of human molecular genetics and have authored or edited a number of books including Human Gene Mutation (1993), The Molecular Genetics of Haemostasis and its Inherited Disorders (1994), Human Gene Evolution (1999), Nature Encyclopedia of the Human Genome (2003), Molecular Genetics of Lung Cancer (2005), Handbook of Human Molecular Evolution (2008), Copy Number Variation and Disease (2009) and Neurofibromatosis Type1: Molecular & Cellular Biology (2013).