Philip Fleckman

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Alan D. Irvine, Ana Terron-Kwiatkowski, Yiwei Zhao et al. · Nature Genetics · 2006 · 2.9K citations

Major Predisposing Factor, Common Loss-of-function Variants, Atopic Dermatitis +8

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Frances J.D. Smith, Alan D. Irvine, Ana Terron-Kwiatkowski et al. · Nature Genetics · 2006 · 1K citations

Biology, Mendelian Disorder, Genetic Disorder +10

A large-scale North American study of fungal isolates from nails: The frequency of onychomycosis, fungal distribution, and antifungal susceptibility patterns

Mahmoud A. Ghannoum, Rana Hajjeh, Richard Scher et al. · Journal of the American Academy of Dermatology · 2000 · 527 citations

Fungal Isolates, Fungal Diversity, Antifungal Susceptibility Patterns +6

A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming

Padraic G. Fallon, Takashi Sasaki, Aileen Sandilands et al. · Nature Genetics · 2009 · 470 citations · Full text

Knockout Mouse, Allelic Variant, Developmental Biology +8

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