| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 489 | 2021 |
| The 100 000 Genomes Project: bringing whole genome sequencing to the NHS C Turnbull, RH Scott, E Thomas, L Jones, N Murugaesu, FB Pretty, ... Bmj 361, 2018 | 447 | 2018 |
| PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels AR Martin, E Williams, RE Foulger, S Leigh, LC Daugherty, O Niblock, ... Nature genetics 51 (11), 1560-1565, 2019 | 417 | 2019 |
| sRNAtoolbox: an integrated collection of small RNA research tools A Rueda, G Barturen, R Lebrón, C Gómez-Martín, Á Alganza, JL Oliver, ... Nucleic acids research 43 (W1), W467-W473, 2015 | 231 | 2015 |
| sRNAbench and sRNAtoolbox 2019: intuitive fast small RNA profiling and differential expression E Aparicio-Puerta, R Lebrón, A Rueda, C Gómez-Martín, S Giannoukakos, ... Nucleic acids research 47 (W1), W530-W535, 2019 | 169 | 2019 |
| sRNAbench: profiling of small RNAs and its sequence variants in single or multi-species high-throughput experiments G Barturen, A Rueda, M Hamberg, A Alganza, R Lebron, M Kotsyfakis, ... Methods in Next Generation Sequencing 1 (1), 21-31, 2014 | 101 | 2014 |
| 267 Spanish exomes reveal population-specific differences in disease-related genetic variation J Dopazo, A Amadoz, M Bleda, L Garcia-Alonso, A Alemán, ... Molecular biology and evolution 33 (5), 1205-1218, 2016 | 88 | 2016 |
| Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq) J Lagarde, B Uszczynska-Ratajczak, J Santoyo-Lopez, JM Gonzalez, ... Nature communications 7 (1), 12339, 2016 | 80 | 2016 |
| Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution Z Stark, RE Foulger, E Williams, BA Thompson, C Patel, S Lunke, C Snow, ... The American Journal of Human Genetics 108 (9), 1551-1557, 2021 | 67 | 2021 |
| MethylExtract: high-quality methylation maps and SNV calling from whole genome bisulfite sequencing data G Barturen, A Rueda, JL Oliver, M Hackenberg F1000Research 2, 2013 | 64 | 2013 |
| Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme A Sosinsky, J Ambrose, W Cross, C Turnbull, S Henderson, L Jones, ... Nature Medicine 30 (1), 279-289, 2024 | 57 | 2024 |
| Evolution of the Quorum network and the mobilome (plasmids and bacteriophages) in clinical strains of Acinetobacter baumannii during a decade M López, A Rueda, JP Florido, L Blasco, L Fernández-García, R Trastoy, ... Scientific Reports 8 (1), 2523, 2018 | 27 | 2018 |
| Clustering of DNA words and biological function: a proof of principle M Hackenberg, A Rueda, P Carpena, P Bernaola-Galván, G Barturen, ... Journal of theoretical biology 297, 127-136, 2012 | 26 | 2012 |
| Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family M González‐del Pozo, C Méndez‐Vidal, J Santoyo‐Lopez, A Vela‐Boza, ... Molecular genetics & genomic medicine 2 (2), 124-133, 2014 | 18 | 2014 |
| HGVA: the human genome variation archive J Lopez, J Coll, M Haimel, S Kandasamy, J Tarraga, P Furio-Tari, W Bari, ... Nucleic acids research 45 (W1), W189-W194, 2017 | 14 | 2017 |
| DNA clustering and genome complexity F Dios, G Barturen, R Lebrón, A Rueda, M Hackenberg, JL Oliver Computational biology and chemistry 53, 71-78, 2014 | 14 | 2014 |
| ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing FJ Lopez-Domingo, JP Florido, A Rueda, J Dopazo, J Santoyo-Lopez Bioinformatics 30 (12), 1767-1768, 2014 | 12 | 2014 |
| Generation of different sizes and classes of small RNAs in barley is locus, chromosome and/or cultivar-dependent M Hackenberg, A Rueda, P Gustafson, P Langridge, BJ Shi BMC genomics 17, 1-11, 2016 | 8 | 2016 |
| Genomic evolution of two Acinetobacter baumannii clinical strains from ST-2 clones isolated in 2000 and 2010 (ST-2_clon_2000 and ST-2_clon_2010) M López, A Rueda, JP Florido, L Blasco, E Gato, L Fernández-García, ... Genome Announcements 4 (5), 10.1128/genomea. 01182-16, 2016 | 8 | 2016 |
| 100,000 genomes project: integrating whole genome sequencing (WGS) data into clinical practice A Sosinsky, J Ambrose, M Zarowiecki, J Mitchell, S Henderson, ... Annals of Oncology 30, vii1, 2019 | 4 | 2019 |
