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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Gabriele Richard

Department of Dermatology and Cutaneous Biology

Jefferson Medical College and Jefferson Institute of Molecular Medicine

Thomas Jefferson University




Name/email consistency: high



  • Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, USA. 2000 - 2003
  • Genetic Studies Section, Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, USA. 1998


  1. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. Richard, G., Brown, N., Rouan, F., Van der Schroeff, J.G., Bijlsma, E., Eichenfield, L.F., Sybert, V.P., Greer, K.E., Hogan, P., Campanelli, C., Compton, J.G., Bale, S.J., DiGiovanna, J.J., Uitto, J. J. Invest. Dermatol. (2003) [Pubmed]
  2. Connexin gene pathology. Richard, G. Clin. Exp. Dermatol. (2003) [Pubmed]
  3. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Richard, G., Rouan, F., Willoughby, C.E., Brown, N., Chung, P., Ryynänen, M., Jabs, E.W., Bale, S.J., DiGiovanna, J.J., Uitto, J., Russell, L. Am. J. Hum. Genet. (2002) [Pubmed]
  4. Human connexin disorders of the skin. Richard, G. Cell Commun. Adhes. (2001) [Pubmed]
  5. Connexins: a connection with the skin. Richard, G. Exp. Dermatol. (2000) [Pubmed]
  6. The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. Richard, G., Brown, N., Smith, L.E., Terrinoni, A., Melino, G., Mackie, R.M., Bale, S.J., Uitto, J. Hum. Genet. (2000) [Pubmed]
  7. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Richard, G., Smith, L.E., Bailey, R.A., Itin, P., Hohl, D., Epstein, E.H., DiGiovanna, J.J., Compton, J.G., Bale, S.J. Nat. Genet. (1998) [Pubmed]
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