Carmel Toomes

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Carmel Toomes, Jacqueline A. James, Andrew J. Wood et al. · Nature Genetics · 1999 · 493 citations · Full text

Dentistry, Molecular Genetics, Periodontology +10

Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

Andrew P. Jackson, Helen Eastwood, Sandra Bell et al. · The American Journal of Human Genetics · 2002 · 474 citations · Full text

Medicine, Neurobiology, Neuroscience +7

Real-time PCR based on SYBR-Green I fluorescence: An alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions

Frédérique Ponchel, Carmel Toomes, Kieran Bransfield et al. · BMC Biotechnology · 2003 · 378 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

Carmel Toomes, H.M. Bottomley, Richard M. Jackson et al. · The American Journal of Human Genetics · 2004 · 373 citations · Full text

Medicine, Genetics, Ophthalmology +12

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth et al. · The American Journal of Human Genetics · 2009 · 325 citations · Full text

Medicine, Genetics, Ophthalmology +12