Jobard, Florence

Top Publications

Top Publications Authored or Co-Authored by "Jobard, Florence"

• 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
• A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model

  Journal of Investigative Dermatology, Volume 128, No. 6, Year 2008, Citations 47
• Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13

  Journal of Investigative Dermatology, Volume 127, No. 4, Year 2007, Citations 44