Carmel Toomes
University of Leeds(GB)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, RNA regulation and disease, Ubiquitin and proteasome pathways, Connexins and lens biology
Most-Cited Works
- → Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis(1999)491 cited
- → Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain(2002)474 cited
- → 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(2003)374 cited
- → Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q(2004)370 cited
- → Null Mutations in LTBP2 Cause Primary Congenital Glaucoma(2009)322 cited
- → An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes(2015)245 cited
- → Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration(2012)201 cited
- → Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy(2010)192 cited
- → ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature(2013)187 cited
- → Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy(2001)176 cited