Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ... Nature 478 (7367), 97-102, 2011 | 525 | 2011 |
Human inversions and their functional consequences M Puig, S Casillas, S Villatoro, M Cáceres Briefings in functional genomics 14 (5), 369-379, 2015 | 135 | 2015 |
Large scale, prospective screening of EGFR mutations in the blood of advanced NSCLC patients to guide treatment decisions C Mayo-de-Las-Casas, N Jordana-Ariza, M Garzón-Ibañez, A Balada-Bel, ... Annals of Oncology 28 (9), 2248-2255, 2017 | 110 | 2017 |
Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system E Docampo, G Escaramís, M Gratacòs, S Villatoro, A Puig, M Kogevinas, ... PAIN® 155 (6), 1102-1109, 2014 | 85 | 2014 |
Liquid biopsy in non-small cell lung cancer MA Molina-Vila, C Mayo-De-las-Casas, A Gimenez-Capitan, ... Frontiers in medicine 3, 69, 2016 | 75 | 2016 |
Prospective detection of mutations in cerebrospinal fluid, pleural effusion, and ascites of advanced cancer patients to guide treatment decisions S Villatoro, C Mayo‐de‐las‐Casas, N Jordana‐Ariza, S Viteri‐Ramírez, ... Molecular oncology 13 (12), 2633-2645, 2019 | 73 | 2019 |
An update on liquid biopsy analysis for diagnostic and monitoring applications in non-small cell lung cancer C Mayo-de-Las-Casas, M Garzon Ibanez, N Jordana-Ariza, ... Expert Review of Molecular Diagnostics 18 (1), 35-45, 2018 | 54 | 2018 |
Evolutionary and functional impact of common polymorphic inversions in the human genome C Giner-Delgado, S Villatoro, J Lerga-Jaso, M Gayà-Vidal, M Oliva, ... Nature communications 10 (1), 4222, 2019 | 49 | 2019 |
Imprinting center analysis in Prader–Willi and Angelman syndrome patients with typical and atypical phenotypes C Camprubí, MD Coll, S Villatoro, E Gabau, A Kamli, MJ Martínez, ... European Journal of Medical Genetics 50 (1), 11-20, 2007 | 46 | 2007 |
Identification of copy number variants defining genomic differences among major human groups L Armengol, S Villatoro, JR González, L Pantano, M García-Aragonés, ... PloS one 4 (9), e7230, 2009 | 41 | 2009 |
Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence C Aguado, M Gaya-Vidal, S Villatoro, M Oliva, D Izquierdo, ... PLoS Genetics 10 (3), e1004208, 2014 | 38 | 2014 |
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein J Aigner, S Villatoro, R Rabionet, J Roquer, J Jiménez-Conde, E Martí, ... BMC genetics 14, 1-12, 2013 | 37 | 2013 |
Causas cromosómicas que originan el retraso mental: alteraciones cromosómicas diagnosticables en el paciente M Guitart-Feliubadaló, A Brunet-Vega, S Villatoro-Gómez, N Baena-Díez, ... Rev. neurol.(Ed. impr.), s21-s26, 2006 | 29 | 2006 |
KRAS mutations in the circulating free DNA (cfDNA) of non-small cell lung cancer (NSCLC) patients M Garzón, S Villatoro, C Teixidó, C Mayo, A Martínez, M de los Llanos Gil, ... Translational lung cancer research 5 (5), 511, 2016 | 28 | 2016 |
Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA) JR González, JL Carrasco, L Armengol, S Villatoro, L Jover, Y Yasui, ... BMC bioinformatics 9, 1-15, 2008 | 27 | 2008 |
Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions C Camprubí, M Guitart, E Gabau, MD Coll, S Villatoro, S Oltra, M Roselló, ... American Journal of Medical Genetics Part A 149 (3), 343-348, 2009 | 23 | 2009 |
ProSeeK: A web server for MLPA probe design L Pantano, L Armengol, S Villatoro, X Estivill BMC genomics 9, 1-5, 2008 | 10 | 2008 |
Characterization of six marker chromosomes by comparative genomic hybridization JM Belloso, MR Caballin, E Gabau, N Baena, R Vidal, S Villatoro, ... American Journal of Medical Genetics Part A 136 (2), 169-174, 2005 | 9 | 2005 |
MLPAstats: An R GUI package for the integrated analysis of copy number alterations using MLPA data A Cáceres, L Armengol, S Villatoro, JR González BMC bioinformatics 12, 1-7, 2011 | 7 | 2011 |
Chromosomal causes that produce mental retardation: chromosome disorders that can be diagnosed in the patient M Guitart-Feliubadaló, A Brunet-Vega, S Villatoro-Gómez, N Baena-Díez, ... Revista de Neurologia 42, S21-6, 2006 | 6 | 2006 |