TitleDateReferenceDOI
Alteration in the Culex pipiens transcriptome reveals diverse mechanisms of the mosquito immune system implicated upon Rift Valley fever phlebovirus exposure2020-12-01Nunez, AI; Esteve-Codina, A; Gómez-Garrido, J; Brustolin, M; Talavera, S; Berdugo, M; Dabad, M; Alioto, T; Bensaid, A; Busquets, N (2020). Alteration in the Culex pipiens transcriptome reveals diverse mechanisms of the mosquito immune system implicated upon Rift Valley fever phlebovirus exposure. Plos Neglected Tropical Diseases, 14(12), e0008870-. DOI: 10.1371/journal.pntd.0008870https://doi.org/10.1371/journal.pntd.0008870
Linking omics and ecology to dissect interactions between the apple proliferation phytoplasma and its psyllid vector Cacopsylla melanoneura2020-12-01Weil, T; Ometto, L; Esteve-Codina, A; Gómez-Garrido, J; Oppedisano, T; Lotti, C; Dabad, M; Alioto, T; Vrhovsek, U; Hogenhout, S; Anfora, G (2020). Linking omics and ecology to dissect interactions between the apple proliferation phytoplasma and its psyllid vector Cacopsylla melanoneura. Insect Biochemistry And Molecular Biology, 127(), 103474-. DOI: 10.1016/j.ibmb.2020.103474https://doi.org/10.1016/j.ibmb.2020.103474
Characterization of nuclear mitochondrial insertions in the whole genomes of primates2020-12-01Dayama, G; Zhou, WC; Prado-Martinez, J; Marques-Bonet, T; Mills, RE (2020). Characterization of nuclear mitochondrial insertions in the whole genomes of primates. Nar Genom Bioinform, 2(4), lqaa089-. DOI: 10.1093/nargab/lqaa089https://doi.org/10.1093/nargab/lqaa089
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion2020-12-01McMacken, G; Lochmüller, H; Bansagi, B; Pyle, A; Lochmüller, A; Chinnery, PF; Laurie, S; Beltran, S; Matalonga, L; Horvath, R (2020). Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion. Journal Of Neurology, 267(12), 3643-3649. DOI: 10.1007/s00415-020-10059-3https://doi.org/10.1007/s00415-020-10059-3
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency2020-12-01Hathazi, D; Griffin, H; Jennings, MJ; Giunta, M; Powell, C; Pearce, SF; Munro, B; Wei, W; Boczonadi, V; Poulton, J; Pyle, A; Calabrese, C; Gomez-Duran (2020). Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. Embo Journal, 39(23), e105364-. DOI: 10.15252/embj.2020105364https://doi.org/10.15252/embj.2020105364
Expanding the phenotype ofWiedemann-Steinersyndrome: Craniovertebral junction anomalies2020-12-01Giangiobbe, S; Caraffi, SG; Ivanovski, I; Maini, I; Pollazzon, M; Rosato, S; Trimarchi, G; Lauriello, A; Marinelli, M; Nicoli, D; Baldo, C; Laurie, S; (2020). Expanding the phenotype ofWiedemann-Steinersyndrome: Craniovertebral junction anomalies. American Journal Of Medical Genetics Part a, 182(12), 2877-2886. DOI: 10.1002/ajmg.a.61859https://doi.org/10.1002/ajmg.a.61859
LifeTime and improving European healthcare through cell-based interceptive medicine2020-11-19Rajewsky, N; Almouzni, G; Gorski, SA; Aerts, S; Amit, I; Bertero, MG; Bock, C; Bredenoord, AL; Cavalli, G; Chiocca, S; Clevers, H; De Strooper, B; Egg (2020). LifeTime and improving European healthcare through cell-based interceptive medicine. Nature, 587(7834), 377-386. DOI: 10.1038/s41586-020-2715-9https://doi.org/10.1038/s41586-020-2715-9
A comparative genomics multitool for scientific discovery and conservation2020-11-12Genereux, DP; Serres, A; Armstrong, J; Johnson, J; Marinescu, VD; Muren, E; Juan, DV; Bejerano, G; Casewell, NR; Chemnick, LG; Damas, J; Di Palma, F; (2020). A comparative genomics multitool for scientific discovery and conservation. Nature, 587(7833), 240-+. DOI: 10.1038/s41586-020-2876-6https://doi.org/10.1038/s41586-020-2876-6
Massive gene presence-absence variation shapes an open pan-genome in the Mediterranean mussel2020-11-10Gerdol, M; Moreira, R; Cruz, F; Gómez-Garrido, J; Vlasova, A; Rosani, U; Venier, P; Naranjo-Ortiz, MA; Murgarella, M; Greco, S; Balseiro, P; Corvelo, (2020). Massive gene presence-absence variation shapes an open pan-genome in the Mediterranean mussel. Genome Biology, 21(1), 275-. DOI: 10.1186/s13059-020-02180-3https://doi.org/10.1186/s13059-020-02180-3
Transcriptomic effects of tributyltin (TBT) in zebrafish eleutheroembryos. A functional benchmark dose analysis2020-11-05Martínez, R; Codina, AE; Barata, C; Tauler, R; Piña, B; Navarro-Martín, L (2020). Transcriptomic effects of tributyltin (TBT) in zebrafish eleutheroembryos. A functional benchmark dose analysis. Journal Of Hazardous Materials, 398(), 122881-. DOI: 10.1016/j.jhazmat.2020.122881https://doi.org/10.1016/j.jhazmat.2020.122881
Genomic evidence for recurrent genetic admixture during the domestication of Mediterranean olive trees (Olea europaea L.)2020-10-26Julca, I; Marcet-Houben, M; Cruz, F; Gómez-Garrido, J; Gaut, BS; Díez, CM; Gut, IG; Alioto, TS; Vargas, P; Gabaldón, T (2020). Genomic evidence for recurrent genetic admixture during the domestication of Mediterranean olive trees (Olea europaea L.). Bmc Biology, 18(1), 148-. DOI: 10.1186/s12915-020-00881-6https://doi.org/10.1186/s12915-020-00881-6
Autoantibodies against type I IFNs in patients with life-threatening COVID-192020-10-23Bastard, P; Rosen, LB; Zhang, Q; Michailidis, E; Hoffmann, HH; Zhang, Y; Dorgham, K; Philippot, Q; Rosain, J; Béziat, V; Manry, J; Shaw, E; Haljasmägi (2020). Autoantibodies against type I IFNs in patients with life-threatening COVID-19. Science, 370(6515), eabd4585-+. DOI: 10.1126/science.abd4585https://doi.org/10.1126/science.abd4585
Inborn errors of type I IFN immunity in patients with life-threatening COVID-192020-10-23Zhang, Q; Bastard, P; Liu, ZY; Le Pen, J; Moncada-Velez, M; Chen, J; Ogishi, M; Sabli, IKD; Hodeib, S; Korol, C; Rosain, J; Bilguvar, K; Ye, JQ; Bolze (2020). Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science, 370(6515), eabd4570-. DOI: 10.1126/science.abd4570https://doi.org/10.1126/science.abd4570
Framework for quality assessment of whole genome cancer sequences2020-10-07Whalley, JP; Buchhalter, I; Rheinbay, E; Raine, KM; Stobbe, MD; Kleinheinz, K; Werner, J; Beltran, S; Gut, M; Hübschmann, D; Hutter, B; Livitz, D; Per (2020). Framework for quality assessment of whole genome cancer sequences. Nature Communications, 11(1), 5040-. DOI: 10.1038/s41467-020-18688-yhttps://doi.org/10.1038/s41467-020-18688-y
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples2020-09-21Bailey, MH; Meyerson, WU; Dursi, LJ; Wang, LB; Dong, GL; Liang, WW; Weerasinghe, A; Li, ST; Li, YZ; Kelso, S; Saksena, G; Ellrott, K; Wendl, MC; Wheel (2020). Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nature Communications, 11(1), 4748-. DOI: 10.1038/s41467-020-18151-yhttps://doi.org/10.1038/s41467-020-18151-y
Resolution of R-loops by INO80 promotes DNA replication and maintains cancer cell proliferation and viability2020-09-10Prendergast, L; McClurg, UL; Hristova, R; Berlinguer-Palmini, R; Greener, S; Veitch, K; Hernandez, I; Pasero, P; Rico, D; Higgins, JMG; Gospodinov, A; (2020). Resolution of R-loops by INO80 promotes DNA replication and maintains cancer cell proliferation and viability. Nature Communications, 11(1), 4534-. DOI: 10.1038/s41467-020-18306-xhttps://doi.org/10.1038/s41467-020-18306-x
The Genome Sequence of the Octocoral Paramuricea clavata - A Key Resource To Study the Impact of Climate Change in the Mediterranean2020-09-01Ledoux, JB; Cruz, F; Gómez-Garrido, J; Antoni, R; Blanc, J; Gómez-Gras, D; Kipson, S; López-Sendino, P; Antunes, A; Linares, C; Gut, M; Alioto, T; Gar (2020). The Genome Sequence of the Octocoral Paramuricea clavata - A Key Resource To Study the Impact of Climate Change in the Mediterranean. G3-Genes Genomes Genetics, 10(9), 2941-2952. DOI: 10.1534/g3.120.401371https://doi.org/10.1534/g3.120.401371
Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS2020-09-01Garcia-Reyero, J; Magunacelaya, NM; de Villambrosia, SG; Mediavilla, AG; Lam, MU; Insunza, A; Tonda, R; Beltran, S; Gut, M; Gonzalez, A; Montes-Moreno (2020). Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS. Journal Of Clinical Pathology, 73(9), 571-577. DOI: 10.1136/jclinpath-2019-206282https://doi.org/10.1136/jclinpath-2019-206282
Chromatin activation as a unifying principle underlying pathogenic mechanisms in multiple myeloma2020-09-01Ordoñez, R; Kulis, M; Russiñol, N; Chapaprieta, V; Carrasco-Leon, A; García-Torre, B; Charalampopoulou, S; Clot, G; Beekman, R; Meydan, C; Duran-Ferre (2020). Chromatin activation as a unifying principle underlying pathogenic mechanisms in multiple myeloma. Genome Research, 30(9), 1217-1227. DOI: 10.1101/gr.265520.120https://doi.org/10.1101/gr.265520.120
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity2020-09-01Matalonga, L; Laurie, S; Papakonstantinou, A; Piscia, D; Mereu, E; Bullich, G; Thompson, R; Horvath, R; Pérez-Jurado, L; Riess, O; Gut, I; van Ommen, (2020). Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. Journal Of Molecular Diagnostics, 22(9), 1205-1215. DOI: 10.1016/j.jmoldx.2020.06.008https://doi.org/10.1016/j.jmoldx.2020.06.008