Acute Promyelocytic Leukemia: A Constellation of Molecular Events around a Single PML-RARA Fusion Gene A Liquori, M Ibañez, C Sargas, MÁ Sanz, E Barragán, J Cervera Cancers 12 (3), 624, 2020 | 148 | 2020 |
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations A Liquori, C Vaché, D Baux, C Blanchet, C Hamel, S Malcolm, M Koenig, ... Human mutation 37 (2), 184-193, 2016 | 104 | 2016 |
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo A Bergougnoux, I Rivals, A Liquori, C Raynal, J Varilh, M Magalhães, ... Epigenetics 9 (7), 1007-1017, 2014 | 18 | 2014 |
Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype M Ibáñez, E Such, E Onecha, I Gómez-Seguí, A Liquori, J Sellés, ... Scientific reports 10 (1), 5904, 2020 | 12 | 2020 |
The modular network structure of the mutational landscape of Acute Myeloid Leukemia M Ibanez, J Carbonell-Caballero, E Such, L Garcia-Alonso, A Liquori, ... PLoS One 13 (10), e0202926, 2018 | 12 | 2018 |
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion J Poyatos‐García, P Martí, A Liquori, N Muelas, I Pitarch, L Martinez‐Dolz, ... Annals of Neurology 92 (5), 793-806, 2022 | 11 | 2022 |
A single-run next-generation sequencing (NGS) assay for the simultaneous detection of both gene mutations and large chromosomal abnormalities in patients with myelodysplastic … A Liquori, I Lesende, L Palomo, G Avetisyan, M Ibáñez, ... Cancers 13 (8), 1947, 2021 | 11 | 2021 |
The clinical spectrum, diagnosis, and management of GATA2 deficiency M Santiago, A Liquori, E Such, Á Zúñiga, J Cervera Cancers 15 (5), 1590, 2023 | 10 | 2023 |
A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome … C Vaché, J Puechberty, V Faugère, F Darmaisin, A Liquori, D Baux, ... Frontiers in Genetics 11, 623, 2020 | 10 | 2020 |
RNA sequencing analysis for the identification of a PCM1/PDGFRB fusion gene responsive to imatinib E Such, A Liquori, E Mora, J Marco-Ayala, G Avetisyan, A Regadera, ... Acta Haematologica 142 (2), 92-97, 2019 | 9 | 2019 |
Concurrent Zrsr2 mutation and Tet2 loss promote myelodysplastic neoplasm in mice C Garcia-Ruiz, C Martínez-Valiente, L Cordón, A Liquori, ... Leukemia 36 (10), 2509-2518, 2022 | 8 | 2022 |
Next-Generation Sequencing: Quantensprung für Forschung und Diagnostik in der Ophthalmologie HJ Bolz Klinische Monatsblätter für Augenheilkunde 234 (03), 280-288, 2017 | 8 | 2017 |
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes A Rodriguez-Muñoz, A Liquori, B García-Bohorquez, T Jaijo, E Aller, ... Scientific Reports 12 (1), 68, 2022 | 6 | 2022 |
Aberrant alternative splicing in U2af1/Tet2 double mutant mice contributes to major hematological phenotypes C Martínez-Valiente, C Garcia-Ruiz, B Rosón, A Liquori, ... International journal of molecular sciences 22 (13), 6963, 2021 | 6 | 2021 |
Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi … M Boluda-Navarro, M Ibáñez, A Liquori, C Franco-Jarava, ... Frontiers in immunology 12, 625591, 2021 | 6 | 2021 |
Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management A Moret, Á Zúñiga, JM Ayala, A Liquori, AR Cid, S Haya, F Ferrando, ... Journal of Thrombosis and Thrombolysis 50, 686-688, 2020 | 6 | 2020 |
Acute Promyelocytic leukemia: A constellation of molecular events around a single PML-RARA fusion gene. Cancers. 2020; 12 (3): 624 A Liquori, M Ibañez, C Sargas, MÁ Sanz, E Barragán, J Cervera | 5 | |
Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency O Marin-Bejar, D Romero-Moya, J Rodriguez-Ubreva, M Distefano, ... Haematologica 108 (9), 2551, 2023 | 3 | 2023 |
ERCC6L2 in early-onset adult myelodysplastic syndrome without pre-existing disorder S Carrillo-Tornel, TH Chen-Liang, A Yeguas Bermejo, H Pomares, ... Blood 140 (Supplement 1), 4074-4075, 2022 | 2 | 2022 |
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model J Poyatos-García, P Soblechero-Martín, A Liquori, A López-Martínez, ... Skeletal Muscle 14 (1), 21, 2024 | 1 | 2024 |