H Firth

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

M Bobrow, R Redon, C Shaw-Smith, 2004, Journal of Medical Genetics.

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

P Wordsworth, Paul Wordsworth, H. Firth, 2002, Journal of medical genetics.