Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgarisFrances J.D. Smith, Alan D. Irvine, Ana Terron-Kwiatkowski, Aileen Sandilands, Linda Campbell, Yiwei Zhao, Haihui Liao, Alan Evans, David Goudie, Sue Lewis‐Jones, Gehan Arseculeratne, Colin S. Munro, Ann Sergeant, Gráinne M. O’Regan, Sherri J. Bale, John G. Compton, John J DiGiovanna, Richard B. Presland, Philip Fleckman, W.H. Irwin McLean
Nature Genetics. 20061,038 Citations
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndromeStéphane Chavanas, Christine Bodemer, Ariane Rochat, Dominique Hamel‐Teillac, Mohammed A Abd Ali, Alan D. Irvine, Jean‐Louis Bonafé, John Wilkinson, Alain Taı̈eb, Yann Barrandon, John Harper, Y. De Prost, Alain Hovnanian
Nature Genetics. 2000846 Citations
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009Vinzenz Oji, Gianluca Tadini, Masashi Akiyama, Claudine Blanchet Bardon, Christine Bodemer, E. Bourrat, Philippe Coudiere, John J. DiGiovanna, Peter M. Elias, Judith Fischer, Philip Fleckman, M. Gina, John Harper, Takashi Hashimoto, Ingrid Haußer, Hans Christian Hennies, Daniel Hohl, Alain Hovnanian, Akemi Ishida‐Yamamoto, W.K. Jacyk, Sancy A. Leachman, Irene M. Leigh, J. Mazereeuw‐Hautier, Leonard M. Milstone, Fanny Morice‐Picard, Amy S. Paller, Gabriele Richard, Matthias Schmuth, Hiroshi Shimizu, Eli Sprecher, Maurice A. M. Van Steensel, Alain Taı̈eb, Jorge R. Toro, P. Vabres, Anders Vahlquist, Mary L. Williams, Heiko Traupe
Journal of the American Academy of Dermatology. 2010797 Citations
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragilityCristina Has, Johann Bauer, Christine Bodemer, Maria C. Bolling, Leena Bruckner‐Tuderman, Anja Diem, Jo‐David Fine, Adrian Heagerty, Alain Hovnanian, M. Peter Marinkovich, Anna E. Martinez, John A. McGrath, Celia Moss, Dédée F. Murrell, Francis Palisson, Agnes Schwieger‐Briel, Eli Sprecher, Katsuto Tamai, Jouni Uitto, David T. Woodley, Giovanna Zambruno, Jemima E. Mellerio
British Journal of Dermatology. 2020796 CitationsOPEN ACCESS