TitleDateAuthorsDOI
Look-alike humans identified by facial recognition algorithms show genetic similarities2022-08-23Joshi, RS; Rigau, M; Garcia-Prieto, CA; de Moura, MC; Pineyro, D; Moran, S; Davalos, V; Carrion, P; Ferrando-Bernal, M; Olalde, I; Lalueza-Fox, C; Nav (2022). Look-alike humans identified by facial recognition algorithms show genetic similarities. Cell Reports, 40(8), 111257-. DOI: 10.1016/j.celrep.2022.111257https://doi.org/10.1016/j.celrep.2022.111257
Developmental RNA-Seq transcriptomics of haploid germ cells and spermatozoa uncovers novel pathways associated with teleost spermiogenesis2022-08-19Castro-Arnau, J; Chauvigne, F; Gomez-Garrido, J; Esteve-Codina, A; Dabad, M; Alioto, T; Finn, RN; Cerda, J (2022). Developmental RNA-Seq transcriptomics of haploid germ cells and spermatozoa uncovers novel pathways associated with teleost spermiogenesis. Scientific Reports, 12(1), 14162-. DOI: 10.1038/s41598-022-18422-2https://doi.org/10.1038/s41598-022-18422-2
Detection of early seeding of Richter transformation in chronic lymphocytic leukemia2022-08-11Nadeu, F; Royo, R; Massoni-Badosa, R; Garcia-Torre, B; Duran-Ferrer, M; Dawson, KJ; Kulis, M; Diaz-Navarro, A; Villamor, N; Melero, JL; Chapaprieta, V (2022). Detection of early seeding of Richter transformation in chronic lymphocytic leukemia. Nature Medicine, 28(8), 1662-+. DOI: 10.1038/s41591-022-01927-8https://doi.org/10.1038/s41591-022-01927-8
Recovering the genomes hidden in museum wet collections2022-08-01Ruiz-Gartzia, I; Lizano, E; Marques-Bonet, T; Kelley, JL (2022). Recovering the genomes hidden in museum wet collections. Molecular Ecology Resources, 22(6), 2127-2129. DOI: 10.1111/1755-0998.13631https://doi.org/10.1111/1755-0998.13631
Polycomb complexes in MLL-AF9-related leukemias2022-08-01Sparavier, A; Di Croce, L (2022). Polycomb complexes in MLL-AF9-related leukemias. Current Opinion In Genetics & Development, 75(), 101920-. DOI: 10.1016/j.gde.2022.101920https://doi.org/10.1016/j.gde.2022.101920
Clonal heterogeneity and rates of specific chromosome gains are risk predictors in childhood high-hyperdiploid B-cell acute lymphoblastic leukemia2022-08-01Ramos-Muntada, M; Trincado, JL; Blanco, J; Bueno, C; Rodriguez-Cortez, VC; Bataller, A; Lopez-Millan, B; Schwab, C; Ortega, M; Velasco, P; Blanco, ML; (2022). Clonal heterogeneity and rates of specific chromosome gains are risk predictors in childhood high-hyperdiploid B-cell acute lymphoblastic leukemia. Molecular Oncology, 16(16), 2899-2919. DOI: 10.1002/1878-0261.13276https://doi.org/10.1002/1878-0261.13276
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy2022-07-29van der Knoop, MM; Maroofian, R; Fukata, Y; van Ierland, Y; Karimiani, EG; Lehesjoki, AE; Muona, M; Paetau, A; Miyazaki, Y; Hirano, Y; Selim, L; de Fr (2022). Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. Brain, 145(7), 2301-2312. DOI: 10.1093/brain/awac116https://doi.org/10.1093/brain/awac116
Cohesin couples transcriptional bursting probabilities of inducible enhancers and promoters2022-07-27Robles-Rebollo, I; Cuartero, S; Canellas-Socias, A; Wells, S; Karimi, MM; Mereu, E; Chivu, AG; Heyn, H; Whilding, C; Dormann, D; Marguerat, S; Rioja, (2022). Cohesin couples transcriptional bursting probabilities of inducible enhancers and promoters. Nature Communications, 13(1), 4342-. DOI: 10.1038/s41467-022-31192-9https://doi.org/10.1038/s41467-022-31192-9
Reference genomes for conservation.2022-07-22Paez S; Kraus RHS; Shapiro B; Gilbert MTP; Jarvis ED; ; Al-Ajli FO; Ceballos G; Crawford AJ; Fedrigo O; Johnson RN; Johnson WE; Marques-Bonet T; Mori (2022). Reference genomes for conservation.. Science, 377(6604), 364-366. DOI: 10.1126/science.abm8127https://doi.org/10.1126/science.abm8127
The onset of PI3K-related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib2022-07-07Kobialka, P; Sabata, H; Vilalta, O; Gouveia, L; Angulo-Urarte, A; Muixi, L; Zanoncello, J; Munoz-Aznar, O; Olaciregui, NG; Fanlo, L; Esteve-Codina, A; (2022). The onset of PI3K-related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib. Embo Molecular Medicine, 14(7), e15619-. DOI: 10.15252/emmm.202115619https://doi.org/10.15252/emmm.202115619
Position paper on management of personal data in environment and health research in Europe2022-07-01Eva, G; Liese, G; Stephanie, B; Petr, H; Leslie, M; Roel, V; Martine, V; Sergi, B; Mette, H; Sarah, J; Laura, RM; Arnout, S; Morris, AS; Jan, T; Xenia (2022). Position paper on management of personal data in environment and health research in Europe. Environment International, 165(), 107334-. DOI: 10.1016/j.envint.2022.107334https://doi.org/10.1016/j.envint.2022.107334
Two hundred and five newly assembled mitogenomes provide mixed evidence for rivers as drivers of speciation for Amazonian primates2022-07-01Janiak, MC; Silva, FE; Beck, RMD; de Vries, D; Kuderna, LFK; Torosin, NS; Melin, AD; Marques-Bonet, T; Goodhead, IB; Messias, M; da Silva, MNF; Sampai (2022). Two hundred and five newly assembled mitogenomes provide mixed evidence for rivers as drivers of speciation for Amazonian primates. Molecular Ecology, 31(14), 3888-3902. DOI: 10.1111/mec.16554https://doi.org/10.1111/mec.16554
Early detection and improved genomic surveillance of SARS-CoV-2 variants from deep sequencing data2022-06-17Ramazzotti, D; Maspero, D; Angaroni, F; Spinelli, S; Antoniotti, M; Piazza, R; Graudenzi, A (2022). Early detection and improved genomic surveillance of SARS-CoV-2 variants from deep sequencing data. Iscience, 25(6), 104487-. DOI: 10.1016/j.isci.2022.104487https://doi.org/10.1016/j.isci.2022.104487
Controlled X-chromosome dynamics defines meiotic potential of female mouse in vitro germ cells2022-06-14Severino, J; Bauer, M; Mattimoe, T; Arecco, N; Cozzuto, L; Lorden, P; Hamada, N; Nosaka, Y; Nagaoka, SI; Audergon, P; Tarruell, A; Heyn, H; Hayashi, K (2022). Controlled X-chromosome dynamics defines meiotic potential of female mouse in vitro germ cells. Embo Journal, 41(12), e109457-. DOI: 10.15252/embj.2021109457https://doi.org/10.15252/embj.2021109457
Population dynamics and genetic connectivity in recent chimpanzee history2022-06-08Fontsere, C; Kuhlwilm, M; Morcillo-Suarez, C; Alvarez-Estape, M; Lester, JD; Gratton, P; Schmidt, JM; Dieguez, P; Aebischer, T; Alvarez-Varona, P; Agb (2022). Population dynamics and genetic connectivity in recent chimpanzee history. Cell Genom, 2(6), -. DOI: 10.1016/j.xgen.2022.100133https://doi.org/10.1016/j.xgen.2022.100133
Native RNA sequencing in fission yeast reveals frequent alternative splicing isoforms2022-06-01Montanes, JC; Huertas, M; Moro, SG; Blevins, WR; Carmona, M; Ayte, J; Hidalgo, E; Alba, MM (2022). Native RNA sequencing in fission yeast reveals frequent alternative splicing isoforms. Genome Research, 32(6), 1215-1227. DOI: 10.1101/gr.276516.121https://doi.org/10.1101/gr.276516.121
Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool2022-06-01Villafranca-Magdalena, B; Masferrer-Ferragutcasas, C; Lopez-Gil, C; Coll-de la Rubia, E; Rebull, M; Parra, G; García, A; Reques, A; Cabrera, S; Colas, (2022). Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool. International Journal Of Molecular Sciences, 23(11), 6266-. DOI: 10.3390/ijms23116266https://doi.org/10.3390/ijms23116266
The RD?Connect Genome?Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases2022-06-01Laurie, S; Piscia, D; Matalonga, L; Corvó, A; Fernández-Callejo, M; Garcia-Linares, C; Hernandez-Ferrer, C; Luengo, C; Martínez, I; Papakonstantinou, (2022). The RD?Connect Genome?Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human Mutation, 43(6), 717-733. DOI: 10.1002/humu.24353https://doi.org/10.1002/humu.24353
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita2022-06-01Laquerriere, A; Jaber, D; Abiusi, E; Maluenda, J; Mejlachowicz, D; Vivanti, A; Dieterich, K; Stoeva, R; Quevarec, L; Nolent, F; Biancalana, V; Latour, (2022). Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Journal Of Medical Genetics, 59(6), 559-567. DOI: 10.1136/jmedgenet-2020-107595https://doi.org/10.1136/jmedgenet-2020-107595
Chromosome-level assembly, annotation and phylome of Pelobates cultripes, the western spadefoot toad2022-05-27Liedtke, HC; Cruz, F; Gómez-Garrido, J; Palacios, DF; Marcet-Houben, M; Gut, M; Alioto, T; Gabaldón, T; Gomez-Mestre, I (2022). Chromosome-level assembly, annotation and phylome of Pelobates cultripes, the western spadefoot toad. Dna Research, 29(3), dsac013-. DOI: 10.1093/dnares/dsac013https://doi.org/10.1093/dnares/dsac013