Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene A Cascón, I Comino-Méndez, M Currás-Freixes, AA de Cubas, ... Journal of the National Cancer Institute 107 (5), djv053, 2015 | 240 | 2015 |
BPTF is required for c-MYC transcriptional activity and in vivo tumorigenesis L Richart, E Carrillo-de Santa Pau, A Río-Machín, MP De Andrés, ... Nature communications 7 (1), 10153, 2016 | 133 | 2016 |
Genomic profiling reveals spatial intra-tumor heterogeneity in follicular lymphoma S Araf, J Wang, K Korfi, C Pangault, E Kotsiou, A Rio-Machin, T Rahim, ... Leukemia 32 (5), 1261-1265, 2018 | 111 | 2018 |
Differentially expressed small RNAs in Arabidopsis galls formed by Meloidogyne javanica: a functional role for miR390 and its TAS3‐derived tasiRNAs J Cabrera, M Barcala, A García, A Rio‐Machín, C Medina, ... New Phytologist 209 (4), 1625-1640, 2016 | 102 | 2016 |
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants A Rio-Machin, T Vulliamy, N Hug, A Walne, K Tawana, S Cardoso, ... Nature communications 11 (1), 1044, 2020 | 93 | 2020 |
Endogenous retroviruses are a source of enhancers with oncogenic potential in acute myeloid leukaemia Ö Deniz, M Ahmed, CD Todd, A Rio-Machin, MA Dawson, MR Branco Nature communications 11 (1), 3506, 2020 | 90 | 2020 |
Familial CEBPA-mutated acute myeloid leukemia K Tawana, A Rio-Machin, C Preudhomme, J Fitzgibbon Seminars in hematology 54 (2), 87-93, 2017 | 72 | 2017 |
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia SR Cardoso, G Ryan, AJ Walne, A Ellison, R Lowe, H Tummala, ... Leukemia 30 (10), 2083-2086, 2016 | 71 | 2016 |
GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML AF Al Seraihi, A Rio-Machin, K Tawana, C Bödör, J Wang, A Nagano, ... Leukemia 32 (11), 2502-2507, 2018 | 68 | 2018 |
Downregulation of specific miRNAs in hyperdiploid multiple myeloma mimics the oncogenic effect of IgH translocations occurring in the non-hyperdiploid subtype A Rio-Machin, BI Ferreira, T Henry, G Gómez-López, X Agirre, S Alvarez, ... Leukemia 27 (4), 925-931, 2013 | 44 | 2013 |
Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells P Casado, EH Wilkes, F Miraki-Moud, MM Hadi, A Rio-Machin, V Rajeeve, ... Leukemia 32 (8), 1818-1822, 2018 | 41 | 2018 |
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants H Tummala, AD Dokal, A Walne, A Ellison, S Cardoso, ... Proceedings of the National Academy of Sciences 115 (30), 7777-7782, 2018 | 40 | 2018 |
The molecular pathogenesis of the NUP98-HOXA9 fusion protein in acute myeloid leukemia A Rio-Machin, G Gómez-López, J Muñoz, F Garcia-Martinez, ... Leukemia 31 (9), 2000-2005, 2017 | 35 | 2017 |
AML through the prism of molecular genetics S Charrot, H Armes, A Rio‐Machin, J Fitzgibbon British journal of haematology 188 (1), 49-62, 2020 | 22 | 2020 |
Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree K Tawana, J Wang, PA Király, K Kállay, G Benyó, M Zombori, J Csomor, ... European Journal of Human Genetics 25 (8), 1020-1024, 2017 | 21 | 2017 |
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies SR Cardoso, ACM Ellison, AJ Walne, D Cassiman, M Raghavan, ... Haematologica 102 (8), e293, 2017 | 20 | 2017 |
Abrogation of RUNX1 gene expression in de novo myelodysplastic syndrome with t (4; 21)(q21; q22) A Rio-Machín, J Menezes, A Maiques-Diaz, X Agirre, BI Ferreira, ... haematologica 97 (4), 534, 2012 | 8 | 2012 |
Transmission of diffuse large B-cell lymphoma by an allogeneic stem-cell transplant S Araf, J Wang, M Ashton-Key, K Korfi, D Di Bella, A Rio-Machin, ... haematologica 104 (4), e174, 2019 | 6 | 2019 |
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure H Tummala, AJ Walne, F Bewicke-Copley, A Ellison, N Pontikos, ... Proceedings of the National Academy of Sciences 117 (29), 17151-17155, 2020 | 3 | 2020 |
MAPK8-mediated stabilization of SP1 is essential for RUNX1-RUNX1T1-driven leukaemia. A Maiques‐Diaz, M Hernando, A Sánchez‐López, A Rio‐Machin, ... British Journal of Haematology 172 (5), 2016 | 3 | 2016 |