Inherited/genetic diseases • Chromosomal disorders, including microarray chromosome analysis • Foetal medicine prenatal diagnosis, including pre-implantation genetic testing • Application of genetic and genomic tests in diagnosis and practice, including whole exam and whole genome sequencing • High-risk pregnancy, including birth injury • Paediatrics and neonatology • Paediatric metabolic diseases • Genetic and metabolic bone diseases associated with bone fragility and unexplained fractures • Congenital abnormalities and...

Expertise in clinical genetics, especially: • Connective tissue disorders, including Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta • Chromosome disorders • Congenital malformation syndromes • I have received training in medico-legal report writing from Bond Solon • More than 100 reports completed to date, all within deadline and budget • Academic clinical geneticist with around 50 research papers mainly on genetics of congenital malformation syndromes Initial contact by e-mail only