Eli Sprecher

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Orit Topaz, Daniel L. Shurman, Margarita Indelman et al. · Nature Genetics · 2004 · 595 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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 · 356 citations · Full text

Life Sciences, Dermatology, Genetics +11

Updated S2K guidelines on the management of pemphigus vulgaris and foliaceus initiated by the european academy of dermatology and venereology (EADV)

P. Joly, Barbara Horváth, Soner Uzun et al. · Journal of the European Academy of Dermatology and Venereology · 2020 · 335 citations · Full text

Life Sciences, Dermatology, Immunology +15

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Liat Samuelov, Ofer Sarig, Robert M. Harmon et al. · Nature Genetics · 2013 · 334 citations · Full text

Life Sciences, Dermatology, Immunology +13

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

Hannah Mandel, Revital Shemer, Zvi Borochowitz et al. · The American Journal of Human Genetics · 2008 · 281 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13