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 · 489 citations · Full text

Periodontal Disease, Genetics, Pathogenesis +7

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

Developmental Biology, Ependyma, Brain Structure +9

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 · 373 citations · Full text

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 · 370 citations · Full text

Fzd4 Underlie, Chromosome 11Q, Mendelian Disorder +8

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth et al. · The American Journal of Human Genetics · 2009 · 322 citations · Full text

Mendelian Disorder, Ophthalmology, Null Mutations +4