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| Regulated cell-to-cell variation in a cell-fate decision system A Colman-Lerner, A Gordon, E Serra, T Chin, O Resnekov, D Endy, ... Nature 437 (7059), 699-706, 2005 | 555 | 2005 |
| Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1 E Ars, E Serra, J García, H Kruyer, A Gaona, C Lázaro, X Estivill Human molecular genetics 9 (2), 237-247, 2000 | 501 | 2000 |
| regioneR: an R/Bioconductor package for the association analysis of genomic regions based on permutation tests B Gel, A Díez-Villanueva, E Serra, M Buschbeck, MA Peinado, ... Bioinformatics 32 (2), 289-291, 2016 | 446 | 2016 |
| Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations E Serra, T Rosenbaum, U Winner, R Aledo, E Ars, X Estivill, HG Lenard, ... Human molecular genetics 9 (20), 3055-3064, 2000 | 305 | 2000 |
| Confirmation of a double-hit model for the NF1Gene in benign neurofibromas E Serra, S Puig, D Otero, A Gaona, H Kruyer, E Ars, X Estivill, C Lázaro The American Journal of Human Genetics 61 (3), 512-519, 1997 | 281 | 1997 |
| Negative feedback that improves information transmission in yeast signalling RC Yu, CG Pesce, A Colman-Lerner, L Lok, D Pincus, E Serra, M Holl, ... Nature 456 (7223), 755-761, 2008 | 265 | 2008 |
| Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients E Ars, H Kruyer, M Morell, E Pros, E Serra, A Ravella, X Estivill, C Lazaro Journal of medical genetics 40 (6), e82-e82, 2003 | 232 | 2003 |
| Forward genetic screen for malignant peripheral nerve sheath tumor formation identifies new genes and pathways driving tumorigenesis EP Rahrmann, AL Watson, VW Keng, K Choi, BS Moriarity, DA Beckmann, ... Nature genetics 45 (7), 756-766, 2013 | 180 | 2013 |
| Mosaic type‐1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type‐1 (NF1) L Messiaen, J Vogt, K Bengesser, C Fu, F Mikhail, E Serra, ... Human mutation 32 (2), 213-219, 2011 | 142 | 2011 |
| Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene SJ Miller, WJ Jessen, T Mehta, A Hardiman, E Sites, S Kaiser, AG Jegga, ... EMBO molecular medicine 1 (4), 236-248, 2009 | 141 | 2009 |
| Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes L Feliubadaló, A Lopez-Doriga, E Castellsagué, J Del Valle, M Menéndez, ... European Journal of Human Genetics 21 (8), 864-870, 2013 | 126 | 2013 |
| Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations E Pros, C Gómez, T Martín, P Fábregas, E Serra, C Lázaro Human mutation 29 (9), E173-E193, 2008 | 125 | 2008 |
| Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation SR Plotkin, L Messiaen, E Legius, P Pancza, RA Avery, JO Blakeley, ... Genetics in Medicine 24 (9), 1967-1977, 2022 | 105 | 2022 |
| Evaluation of CNV detection tools for NGS panel data in genetic diagnostics JM Moreno-Cabrera, J Del Valle, E Castellanos, L Feliubadaló, M Pineda, ... European Journal of Human Genetics 28 (12), 1645-1655, 2020 | 103 | 2020 |
| Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations E Serra, E Ars, A Ravella, A Sanchez, S Puig, T Rosenbaum, X Estivill, ... Human genetics 108, 416-429, 2001 | 96 | 2001 |
| A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene E Ars, H Kruyer, A Gaona, P Casquero, J Rosell, V Volpini, E Serra, ... The American Journal of Human Genetics 62 (4), 834-841, 1998 | 92 | 1998 |
| Dissecting Loss of Heterozygosity (LOH) in neurofibromatosis type 1‐associated neurofibromas: Importance of copy neutral LOH C Garcia‐Linares, J Fernández‐Rodríguez, E Terribas, J Mercadé, E Pros, ... Human mutation 32 (1), 78-90, 2011 | 84 | 2011 |
| Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas E Serra, T Rosenbaum, M Nadal, U Winner, E Ars, X Estivill, C Lázaro Nature genetics 28 (3), 294-296, 2001 | 84 | 2001 |
| Ras-driven transcriptome analysis identifies aurora kinase A as a potential malignant peripheral nerve sheath tumor therapeutic target AV Patel, D Eaves, WJ Jessen, TA Rizvi, JA Ecsedy, MG Qian, BJ Aronow, ... Clinical cancer research 18 (18), 5020-5030, 2012 | 75 | 2012 |
