Gianluca Tadini

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius, Ludwine Messiaen, P. Wolkenstein et al. · Genetics in Medicine · 2021 · 687 citations · Full text

Revised classification system for inherited epidermolysis bullosa

Jo‐David Fine, Robin A.J. Eady, Eugene A. Bauer et al. · Journal of the American Academy of Dermatology · 2000 · 403 citations

Inherited Epidermolysis Bullosa, Histopathology, Veterinary Science +6

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

David P. Kelsell, Elizabeth E. Norgett, H Unsworth et al. · The American Journal of Human Genetics · 2005 · 351 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans Actin–Extracellular-Matrix Linker Protein UNC-112, Causes Kindler Syndrome

Dawn H. Siegel, G H S Ashton, Homero Penagos et al. · The American Journal of Human Genetics · 2003 · 341 citations · Full text

Causes Kindler Syndrome, Genetic Disorder, Genetics +8

Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

Amy S. Paller, Andrew J. Syder, Yiu-Mo Chan et al. · New England Journal of Medicine · 1994 · 315 citations