Toomes, Carmel

Top Publications

Top Publications Authored or Co-Authored by "Toomes, Carmel"

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

  Nature Genetics, Volume 23, No. 4, Year 1999, Citations 473
• An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

  Nature Cell Biology, Volume 17, No. 8, Year 2015, Citations 206
• The Role of Cathepsin C in Papillon-Lefèvre Syndrome, Prepubertal Periodontitis, and Aggressive Periodontitis

  Human Mutation, Volume 23, No. 3, Year 2004, Citations 105
• Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy

  Investigative Ophthalmology and Visual Science, Volume 58, No. 7, Year 2017, Citations 100
• Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC)

  American Journal of Medical Genetics, Part A, Volume 146, No. 2, Year 2008, Citations 99