Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa MF Jonkman, AMG Pasmooij, SGMA Pasmans, MP van den Berg, ... The American Journal of Human Genetics 77 (4), 653-660, 2005 | 275 | 2005 |
High-efficiency RNA-based reprogramming of human primary fibroblasts I Kogut, SM McCarthy, M Pavlova, DP Astling, X Chen, A Jakimenko, ... Nature communications 9 (1), 745, 2018 | 149 | 2018 |
Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa N Umegaki-Arao, AMG Pasmooij, M Itoh, JE Cerise, Z Guo, B Levy, ... Science translational medicine 6 (264), 264ra164-264ra164, 2014 | 140 | 2014 |
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3 AMG Pasmooij, HH Pas, MC Bolling, MF Jonkman The Journal of clinical investigation 117 (5), 1240-1248, 2007 | 122 | 2007 |
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa AMG Pasmooij, HH Pas, FCL Deviaene, M Nijenhuis, MF Jonkman The American Journal of Human Genetics 77 (5), 727-740, 2005 | 99 | 2005 |
Revertant mosaicism—patchwork in the skin MF Jonkman, AMG Pasmooij New England Journal of Medicine 360 (16), 1680-1682, 2009 | 96 | 2009 |
Modeling inducible human tissue neoplasia identifies an extracellular matrix interaction network involved in cancer progression JA Reuter, S Ortiz-Urda, M Kretz, J Garcia, FA Scholl, AMG Pasmooij, ... Cancer cell 15 (6), 477-488, 2009 | 92 | 2009 |
Successful therapeutic transplantation of revertant skin in epidermolysis bullosa A Gostyński, AMG Pasmooij, MF Jonkman Journal of the American Academy of Dermatology 70 (1), 98-101, 2014 | 85 | 2014 |
Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy A Gostynski, FCL Deviaene, AMG Pasmooij, HH Pas, MF Jonkman British Journal of Dermatology 161 (2), 444-447, 2009 | 84 | 2009 |
Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations AMG Pasmooij, M Nijenhuis, R Brander, MF Jonkman Journal of investigative dermatology 132 (5), 1374-1383, 2012 | 81 | 2012 |
Revertant mosaicism in heritable skin diseases—mechanisms of natural gene therapy AMG Pasmooij, MF Jonkman, J Uitto Discovery medicine 14 (76), 167-179, 2012 | 78 | 2012 |
Antisense oligonucleotide-mediated exon skipping as a systemic therapeutic approach for recessive dystrophic epidermolysis bullosa J Bremer, O Bornert, A Nyström, A Gostynski, MF Jonkman, ... Molecular Therapy-Nucleic Acids 5, 2016 | 74 | 2016 |
Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination D Kiritsi, Y He, AMG Pasmooij, M Onder, R Happle, MF Jonkman, ... The Journal of clinical investigation 122 (5), 1742-1746, 2012 | 70 | 2012 |
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex KB Gostyńska, M Nijenhuis, H Lemmink, HH Pas, AMG Pasmooij, ... Human molecular genetics 24 (11), 3155-3162, 2015 | 68 | 2015 |
Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa AMG Pasmooij, M Garcia, MJ Escamez, AM Nijenhuis, A Azon, ... Journal of investigative dermatology 130 (10), 2407-2411, 2010 | 68 | 2010 |
Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed? R Baardman, VK Yenamandra, JC Duipmans, AMG Pasmooij, ... Journal of the European Academy of Dermatology and Venereology 35 (4), 995-1006, 2021 | 62 | 2021 |
Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands AMG Pasmooij, HH Pas, GHL Jansen, HH Lemmink, MF Jonkman British Journal of Dermatology 156 (5), 861-870, 2007 | 59 | 2007 |
Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy O Bornert, T Kühl, J Bremer, PC Van Den Akker, AMG Pasmooij, ... Molecular Therapy 24 (7), 1302-1311, 2016 | 58 | 2016 |
Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa WY Yuen, AMG Pasmooij, C Stellingsma, MF Jonkman Acta dermato-venereologica 92 (6), 695-696, 2012 | 58 | 2012 |
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa D Kiritsi, M Garcia, R Brander, C Has, R Meijer, MJ Escámez, J Kohlhase, ... Journal of Investigative Dermatology 134 (8), 2097-2104, 2014 | 56 | 2014 |