Authors: Toomes, C Marchbank, NJ Mackey, DA Craig, JE Newbury-Ecob, RA Bennett, CP Vize, CJ Desai, SP Black, GCM Patel, N Teimory, M Markham, AF Inglehearn, CF Churchill, AJ

Citation: C. Toomes et al., Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy, HUM MOL GEN, 10(13), 2001, pp. 1369-1378

Authors: Murton, NJ French, L Toomes, C Joseph, SS Rehman, I Hopkins, BL Inglehearn, CF Churchill, AJ

Citation: Nj. Murton et al., A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype, CYTOG C GEN, 92(1-2), 2001, pp. 97-102

Authors: Danciger, M Hendrickson, J Lyon, J Toomes, C McHale, JC Fishman, GA Inglehearn, CF Jacobson, SG Farber, DB

Citation: M. Danciger et al., CORD9 a new locus for arCRD: Mapping to 8p11, estimation of frequency, evaluation of a candidate gene, INV OPHTH V, 42(11), 2001, pp. 2458-2465

Authors: Praphanphoj, V Goodman, BK Thomas, GH Niel, KM Toomes, C Dixon, MJ Geraghty, MT

Citation: V. Praphanphoj et al., Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), GENOMICS, 65(1), 2000, pp. 67-69

Authors: Hargrave, M James, K Nield, K Toomes, C Georgas, K Sullivan, T Verzijl, HTFM Oley, CA Little, M De Jonghe, P Kwon, JM Kremer, H Dixon, MJ Tirnmerman, V Yamada, T Koopman, P

Citation: M. Hargrave et al., Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases, HUM GENET, 106(4), 2000, pp. 432-439

Authors: Toomes, C James, J Wood, AJ Wu, CL McCormick, D Lench, N Hewitt, C Moynihan, L Roberts, E Woods, CG Markham, A Wong, M Widmer, R Ghaffar, KA Pemberton, M Hussein, IR Temtamy, SA Davies, R Read, AP Sloan, P Dixon, MJ Thakker, NS

Citation: C. Toomes et al., Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis, NAT GENET, 23(4), 1999, pp. 421-424