David Miller

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

M. Cowley, M. Dinger, T. Roscioli, 2018, Genetics in Medicine.

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Marcel E Dinger, Michael Field, Velimir Gayevskiy, 2018, Genetics in Medicine.

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

D. Sillence, M. Cowley, M. Dinger, 2019, Journal of Medical Genetics.

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

A. Bye, M. Cowley, M. Dinger, 2015, Molecular genetics and metabolism.