Fischer, Judith

Top Publications

Top Publications Authored or Co-Authored by "Fischer, Judith"

• Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorze 2009

  Journal of the American Academy of Dermatology, Volume 63, No. 4, Year 2010, Citations 666
• Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

  American Journal of Human Genetics, Volume 69, No. 5, Year 2001, Citations 454
• Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

  Human Molecular Genetics, Volume 12, No. 18, Year 2003, Citations 276
• Mutations in the gene encoding SLURP-1 in Mal de Meleda

  Human Molecular Genetics, Volume 10, No. 8, Year 2001, Citations 191
• Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

  Human Molecular Genetics, Volume 15, No. 5, Year 2006, Citations 187