| An expanded evaluation of protein function prediction methods shows an improvement in accuracy Y Jiang, TR Oron, WT Clark, AR Bankapur, D D’Andrea, R Lepore, ... Genome biology 17 (1), 184, 2016 | 410 | 2016 |
| PROREPAIR-B: a prospective cohort study of the impact of germline DNA repair mutations on the outcomes of patients with metastatic castration-resistant prostate cancer E Castro, N Romero-Laorden, A del Pozo, R Lozano, A Medina, J Puente, ... Journal of Clinical Oncology 37 (6), 490-503, 2019 | 319 | 2019 |
| Chimeras taking shape: potential functions of proteins encoded by chimeric RNA transcripts M Frenkel-Morgenstern, V Lacroix, I Ezkurdia, Y Levin, A Gabashvili, ... Genome research 22 (7), 1231-1242, 2012 | 165 | 2012 |
| Reconstructing images from their most singular fractal manifold A Turiel, A Del Pozo IEEE transactions on Image processing 11 (4), 345-350, 2002 | 116 | 2002 |
| Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly L Rodriguez-Laguna, N Agra, K Ibañez, G Oliva-Molina, G Gordo, ... Journal of Experimental Medicine 216 (2), 407-418, 2019 | 107 | 2019 |
| Comparative proteomics reveals a significant bias toward alternative protein isoforms with conserved structure and function I Ezkurdia, A del Pozo, A Frankish, JM Rodriguez, J Harrow, K Ashman, ... Molecular biology and evolution 29 (9), 2265-2283, 2012 | 102 | 2012 |
| Defining functional distances over gene ontology A del Pozo, F Pazos, A Valencia BMC bioinformatics 9, 1-15, 2008 | 96 | 2008 |
| Alternatively spliced homologous exons have ancient origins and are highly expressed at the protein level F Abascal, I Ezkurdia, J Rodriguez-Rivas, JM Rodriguez, A del Pozo, ... PLoS computational biology 11 (6), e1004325, 2015 | 90 | 2015 |
| CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype L Rodriguez-Laguna, K Ibañez, G Gordo, S Garcia-Minaur, ... Genetics in Medicine 20 (8), 882-889, 2018 | 69 | 2018 |
| mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review G Gordo, J Tenorio, P Arias, F Santos‐Simarro, S García‐Miñaur, ... Clinical genetics 93 (4), 762-775, 2018 | 53 | 2018 |
| Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta JA Caparros‐Martin, MS Aglan, S Temtamy, GA Otaify, M Valencia, ... Molecular genetics & genomic medicine 5 (1), 28-39, 2017 | 51 | 2017 |
| Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature L Sentchordi‐Montané, M Aza‐Carmona, S Benito‐Sanz, ... Clinical endocrinology 88 (6), 820-829, 2018 | 41 | 2018 |
| A New Overgrowth Syndrome is due to Mutations in RNF125 J Tenorio, A Mansilla, M Valencia, V Martínez‐Glez, V Romanelli, P Arias, ... Human mutation 35 (12), 1436-1441, 2014 | 36 | 2014 |
| A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency W Jones, B Gong, N Novoradovskaya, D Li, R Kusko, TA Richmond, ... Genome biology 22 (1), 1-38, 2021 | 29 | 2021 |
| The potential clinical impact of the release of two drafts of the human proteome I Ezkurdia, E Calvo, A Del Pozo, J Vázquez, A Valencia, ML Tress Expert review of proteomics 12 (6), 579-593, 2015 | 29 | 2015 |
| FGF9 mutation causes craniosynostosis along with multiple synostoses M Rodriguez‐Zabala, M Aza‐Carmona, CI Rivera‐Pedroza, A Belinchón, ... Human mutation 38 (11), 1471-1476, 2017 | 26 | 2017 |
| Prioritization of pathogenic mutations in the protein kinase superfamily JMG Izarzugaza, A del Pozo, M Vazquez, A Valencia BMC genomics 13 (4), 1-11, 2012 | 25 | 2012 |
| Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants F Santos-Simarro, E Vallespin, A Del Pozo, K Ibanez, JC Silla, ... Clinical genetics 92 (3), 350-351, 2017 | 22 | 2017 |
| Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions B Gong, D Li, R Kusko, N Novoradovskaya, Y Zhang, S Wang, ... Genome biology 22 (1), 1-23, 2021 | 20 | 2021 |
| Broadening the phenotypic spectrum of POP1‐skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia J Barraza‐García, CI Rivera‐Pedroza, A Hisado‐Oliva, ... Clinical genetics 92 (1), 91-98, 2017 | 19 | 2017 |
