I am principally involved in the analysis of whole exome sequence data, looking for variants potentially causative of severe insulin resistance and other metabolic disorders.
The UK10K project identifies rare variants in health and disease.
Truncation of POC1A associated with short stature and extreme insulin resistance.
Journal of molecular endocrinology 2015;55;2;147-58
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
The Journal of clinical investigation 2014;124;9;4028-38
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
Proceedings of the National Academy of Sciences of the United States of America 2014;111;24;8901-6
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Nature genetics 2012;44;8;928-33
An activating mutation of AKT2 and human hypoglycemia.
Science (New York, N.Y.) 2011;334;6055;474
Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes.
Journal of leukocyte biology 2007;81;3;581-3
No evidence for association of the TATA-box binding protein glutamine repeat sequence or the flanking chromosome 6q27 region with type 1 diabetes.
Biochemical and biophysical research communications 2005;331;2;435-41
Haplotype tag single nucleotide polymorphism analysis of the human orthologues of the rat type 1 diabetes genes Ian4 (Lyp/Iddm1) and Cblb.