Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification JD Fine, L Bruckner-Tuderman, RAJ Eady, EA Bauer, JW Bauer, C Has, ... Journal of the American Academy of Dermatology 70 (6), 1103-1126, 2014 | 993 | 2014 |
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility C Has, JW Bauer, C Bodemer, MC Bolling, L Bruckner‐Tuderman, A Diem, ... British Journal of Dermatology 183 (4), 614-627, 2020 | 413 | 2020 |
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome F Jobard, B Bouadjar, F Caux, S Hadj-Rabia, C Has, F Matsuda, ... Human molecular genetics 12 (8), 925-935, 2003 | 278 | 2003 |
Integrin α3 Mutations with Kidney, Lung, and Skin Disease C Has, G Spartà, D Kiritsi, L Weibel, A Moeller, V Vega-Warner, A Waters, ... New England Journal of Medicine 366 (16), 1508-1514, 2012 | 258 | 2012 |
Epidermolysis bullosa A Bardhan, L Bruckner-Tuderman, ILC Chapple, JD Fine, N Harper, ... Nature reviews Disease primers 6 (1), 78, 2020 | 181 | 2020 |
Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes C Herz, M Aumailley, C Schulte, U Schlotzer-Schrehardt, ... Journal of Biological Chemistry 281 (47), 36082-36090, 2006 | 161 | 2006 |
Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history C Has, D Castiglia, M del Rio, M Garcia Diez, E Piccinni, D Kiritsi, ... Human mutation 32 (11), 1204-1212, 2011 | 139 | 2011 |
Laminin 332 in junctional epidermolysis bullosa D Kiritsi, C Has, L Bruckner-Tuderman Cell adhesion & migration 7 (1), 135-141, 2013 | 129 | 2013 |
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype–phenotype constellations in 41 patients with dystrophic epidermolysis bullosa JS Kern, J Kohlhase, L Bruckner-Tuderman, C Has Journal of investigative dermatology 126 (5), 1006-1012, 2006 | 129 | 2006 |
The Conradi–Hünermann–Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism C Has, L Bruckner-Tuderman, D Müller, M Floeth, E Folkers, D Donnai, ... Human molecular genetics 9 (13), 1951-1955, 2000 | 106 | 2000 |
The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations PC van den Akker, MF Jonkman, T Rengaw, L Bruckner‐Tuderman, ... Human mutation 32 (10), 1100-1107, 2011 | 102 | 2011 |
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity M Pigors, D Kiritsi, S Krümpelmann, N Wagner, Y He, M Podda, ... Human molecular genetics 20 (9), 1811-1819, 2011 | 100 | 2011 |
Molecular basis of inherited skin-blistering disorders, and therapeutic implications M Aumailley, C Has, L Tunggal, L Bruckner-Tuderman Expert reviews in molecular medicine 8 (24), 1-21, 2006 | 99 | 2006 |
Chronic colitis due to an epithelial barrier defect: the role of kindlin‐1 isoforms JS Kern, C Herz, E Haan, D Moore, S Nottelmann, T Von Lilien, P Greiner, ... The Journal of Pathology: A Journal of the Pathological Society of Great …, 2007 | 95 | 2007 |
PORCN mutations in focal dermal hypoplasia: coping with lethality D Bornholdt, F Oeffner, A König, R Happle, Y Alanay, J Ascherman, ... Human mutation 30 (5), E618-E628, 2009 | 93 | 2009 |
Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone C Has, A Nyström, AH Saeidian, L Bruckner-Tuderman, J Uitto Matrix Biology 71, 313-329, 2018 | 92 | 2018 |
Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa C Has, L Liu, MC Bolling, AV Charlesworth, M El Hachem, MJ Escámez, ... The British Journal of Dermatology 182 (3), 574, 2020 | 91 | 2020 |
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa RJ Cho, LB Alexandrov, NY Den Breems, VS Atanasova, M Farshchian, ... Science Translational Medicine 10 (455), eaas9668, 2018 | 91 | 2018 |
Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes C Has, C Herz, E Zimina, HY Qu, Y He, ZG Zhang, TT Wen, Y Gache, ... The American journal of pathology 175 (4), 1442-1452, 2009 | 91 | 2009 |
Disorders of the cutaneous basement membrane zone—the paradigm of epidermolysis bullosa L Bruckner-Tuderman, C Has Matrix biology 33, 29-34, 2014 | 89 | 2014 |