Genome-wide analysis of factors affecting transcription elongation and DNA repair: a new role for PAF and Ccr4-not in transcription-coupled repair H Gaillard, C Tous, J Botet, C González-Aguilera, MJ Quintero, ... PLoS genetics 5 (2), e1000364, 2009 | 109 | 2009 |
Genomic profiling of fungal cell wall-interfering compounds: identification of a common gene signature R García, J Botet, JM Rodríguez-Peña, C Bermejo, JC Ribas, JL Revuelta, ... BMC genomics 16, 1-20, 2015 | 72 | 2015 |
Mitochondria and lipid raft-located FOF1-ATP synthase as major therapeutic targets in the antileishmanial and anticancer activities of ether lipid edelfosine JA Villa-Pulgarín, C Gajate, J Botet, A Jimenez, N Justies, RE Varela-M, ... PLoS neglected tropical diseases 11 (8), e0005805, 2017 | 69 | 2017 |
New insights into the RNA-based mechanism of action of the anticancer drug 5′-fluorouracil in eukaryotic cells L Mojardin, J Botet, L Quintales, S Moreno, M Salas PloS one 8 (11), e78172, 2013 | 63 | 2013 |
Drug uptake, lipid rafts and vesicle trafficking modulate resistance to an anticancer lysophosphatidylcholine analogue in yeast A Cuesta-Marbán, J Botet, O Czyz, LM Cacharro, C Gajate, V Hornillos, ... Journal of Biological Chemistry, 2013 | 63 | 2013 |
A Chemical Genomic Screen in Saccharomyces cerevisiae Reveals a Role for Diphthamidation of Translation Elongation Factor 2 in Inhibition of Protein Synthesis … J Botet, M Rodríguez-Mateos, JPG Ballesta, JL Revuelta, M Remacha Antimicrobial agents and chemotherapy 52 (5), 1623-1629, 2008 | 42 | 2008 |
A Chemogenomic Screening of Sulfanilamide-Hypersensitive Saccharomyces cerevisiae Mutants Uncovers ABZ2, the Gene Encoding a Fungal … J Botet, L Mateos, JL Revuelta, MA Santos Eukaryotic Cell 6 (11), 2102-2111, 2007 | 29 | 2007 |
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients J Tenorio, P Alarcón, P Arias, I Dapía, S García-Miñaur, ... European Journal of Human Genetics 28 (4), 469-479, 2020 | 28 | 2020 |
Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole‐exome next generation sequencing V Pytel, JA Matías‐Guiu, L Torre‐Fuentes, P Montero‐Escribano, ... Brain and behavior 9 (4), e01272, 2019 | 28 | 2019 |
Chromosome segregation and organization are targets of 5′-Fluorouracil in eukaryotic cells L Mojardín, J Botet, S Moreno, M Salas Cell Cycle 14 (2), 206-218, 2015 | 19 | 2015 |
Genome-wide screen reveals antitumor Zalypsis® as a strong inducer of DNA double strand breaks A Herrero, J Botet, C Cuevas, F Gago, S Moreno Cancer Research 67 (9_Supplement), 5733-5733, 2007 | 6 | 2007 |
A newly homozygous variant in ZNF808: a possible candidate gene for Satoyoshi Syndrome? J Solera, S Álvarez, J Botet, C de Cabo Journal of the Neurological Sciences 379, 226-228, 2017 | 5 | 2017 |
Targeted WES study, an effective tool for the genetic diagnosis of epilepsy M Martinez-Garcia, I Diez, C Rodriguez, R Perez-Carro, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 309-309, 2019 | | 2019 |
Diagnostic yield of exome trio analysis to identify the genetic etiology in 404 undiagnosed cases I Diez, M Martinez-Garcia, R Sanchez-Alcudia, C Rodriguez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 221-222, 2019 | | 2019 |
Diagnostic yield of exome trio analysis to identify the genetic etiology in 260 undiagnosed cases M Pena-Vilabelda, M Martinez-Garcia, I Diez, R Sanchez-Alcudia, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 332-333, 2018 | | 2018 |
Analysis of 477 systematic Sanger sequencing validations of NGS identified variants R Sanchez-Alcudia, M Martinez-Garcia, N Sanchez-Bolivar, C Rodriguez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 669-669, 2018 | | 2018 |
Targeted gene testing on a cohort of 122 epileptic cases referred to a single institution reveals a high diagnostic rate on Early Infantile Epileptic Encephalopathy M Martinez-Garcia, C Rodriguez, M Carcajona, I Diez, R Sanchez-Alcudia, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 385-386, 2018 | | 2018 |
STUDY OF THE MUTATIONAL PROFILE OF 84 MYELODYSPLASTIC SYNDROMES: ASSOCIATION WITH CLINICAL-BIOLOGICAL DATA M Atance, P Maietta, J Botet, C Soto, MA Perez, A Velasco, A Pascual, ... HAEMATOLOGICA 102, 272-273, 2017 | | 2017 |
STUDY OF THE CLONAL EVOLUTION OF 17 SMD THROUGH MASSIVE SEQUENCING: ACQUISITION OF NEW MUTATIONS AND INCREASE OF THE RISK OF TRANSFORMATION TO LMA M Atance, P Maietta, J Botet, C Soto, A Perez Ma, A Velasco, P Llamas, ... HAEMATOLOGICA 102, 33-33, 2017 | | 2017 |
Interlaboratory Assessment Of Mutation Detection In Myeloid Malignancies By Targeted Next-Generation Sequencing C Fernandez-Rodriguez, R Ayala, E Barragan, S Alvarez, M Bernal, ... Haematologica, 2017 | | 2017 |