| Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia M Bogliolo, B Schuster, C Stoepker, B Derkunt, Y Su, A Raams, JP Trujillo, ... The American Journal of Human Genetics 92 (5), 800-806, 2013 | 373 | 2013 |
| Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype R Kalb, K Neveling, H Hoehn, H Schneider, Y Linka, SD Batish, C Hunt, ... The American Journal of Human Genetics 80 (5), 895-910, 2007 | 168 | 2007 |
| Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations M Castella, R Pujol, E Callén, JP Trujillo, JA Casado, H Gille, FP Lach, ... Blood, The Journal of the American Society of Hematology 117 (14), 3759-3769, 2011 | 157 | 2011 |
| A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain E Callén, JA Casado, MD Tischkowitz, JA Bueren, A Creus, R Marcos, ... Blood 105 (5), 1946-1949, 2005 | 153 | 2005 |
| Hematopoietic dysfunction in a mouse model for Fanconi anemia group D1 S Navarro, NW Meza, O Quintana-Bustamante, JA Casado, A Jacome, ... Molecular Therapy 14 (4), 525-535, 2006 | 132 | 2006 |
| Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact M Castella, R Pujol, E Callén, MJ Ramírez, JA Casado, M Talavera, ... Journal of medical genetics 48 (4), 242-250, 2011 | 90 | 2011 |
| In vitro phenotypic correction of hematopoietic progenitors from Fanconi anemia group A knockout mice P Rıo, JC Segovia, H Hanenberg, JA Casado, J Martınez, K Göttsche, ... Blood, The Journal of the American Society of Hematology 100 (6), 2032-2039, 2002 | 87 | 2002 |
| A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network JA Casado, E Callén, A Jacome, P Río, M Castella, S Lobitz, T Ferro, ... Journal of medical genetics 44 (4), 241-249, 2007 | 85 | 2007 |
| Lentiviral-mediated genetic correction of hematopoietic and mesenchymal progenitor cells from Fanconi anemia patients A Jacome, S Navarro, P Río, RM Yañez, A González-Murillo, ML Lozano, ... Molecular Therapy 17 (6), 1083-1092, 2009 | 71 | 2009 |
| Relevance of the Fanconi anemia pathway in the response of human cells to trabectedin JA Casado, P Rio, E Marco, V Garcia-Hernandez, A Domingo, L Perez, ... Molecular cancer therapeutics 7 (5), 1309-1318, 2008 | 64 | 2008 |
| Engraftment and in vivo proliferation advantage of gene-corrected mobilized CD34+ cells from Fanconi anemia patients P Río, S Navarro, G Guenechea, R Sánchez-Domínguez, ML Lamana, ... Blood, The Journal of the American Society of Hematology 130 (13), 1535-1542, 2017 | 56 | 2017 |
| Fanconi anaemia: from a monogenic disease to sporadic cancer A Valeri, S Martínez, JA Casado, JA Bueren Clinical and Translational Oncology 13, 215-221, 2011 | 43 | 2011 |
| Elevated levels of IL-1β in Fanconi anaemia group A patients due to a constitutively active phosphoinositide 3-kinase-Akt pathway are capable of promoting tumour cell proliferation A Ibanez, P Rio, JA Casado, JA Bueren, JL Fernández-Luna, C Pipaon Biochemical Journal 422 (1), 161-170, 2009 | 36 | 2009 |
| Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients E Callén, MD Tischkowitz, A Creus, R Marcos, JA Bueren, JA Casado, ... Cytogenetic and genome research 104 (1-4), 341-345, 2004 | 30 | 2004 |
| Bcr/Abl interferes with the Fanconi anemia/BRCA pathway: implications in the chromosomal instability of chronic myeloid leukemia cells A Valeri, ME Alonso-Ferrero, P Río, MR Pujol, JA Casado, L Pérez, ... PloS one 5 (12), e15525, 2010 | 29 | 2010 |
| A Simplified Approach to Improve the Efficiency and Safety of Ex Vivo Hematopoietic Gene Therapy in Fanconi Anemia Patients A Jacome, S Navarro, JA Casado, P Rio, L Madero, J Estella, J Sevilla, ... Human gene therapy 17 (2), 245-250, 2006 | 29 | 2006 |
| Down-regulated expression of hsa-miR-181c in Fanconi anemia patients: implications in TNFα regulation and proliferation of hematopoietic progenitor cells P Río, X Agirre, L Garate, R Baños, L Álvarez, E San José-Enériz, I Badell, ... Blood, The Journal of the American Society of Hematology 119 (13), 3042-3049, 2012 | 25 | 2012 |
| Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia J Reina-Castillón, R Pujol, M López-Sánchez, B Rodríguez-Santiago, ... Blood advances 1 (5), 319-329, 2017 | 19 | 2017 |
| Non-homologous end-joining defect in fanconi anemia hematopoietic cells exposed to ionizing radiation JA Casado, MI Núñez, JC Segovia, JM Ruiz de Almodóvar, JA Bueren Radiation research 164 (5), 635-641, 2005 | 17 | 2005 |
| Jun N-terminal kinase activity and early growth-response factor-1 gene expression are down-regulated in Fanconi anemia group A lymphoblasts C Pipaon, JA Casado, JA Bueren, JL Fernandez-Luna Blood 103 (1), 128-132, 2004 | 14 | 2004 |
