TitleDateAuthorsDOI
Combining Nanopore and Illumina Sequencing Permits Detailed Analysis of Insertion Mutations and Structural Variations Produced by PEG-Mediated Transformation in Ostreococcus tauri2021-03-01Thomy, J; Sanchez, F; Gut, M; Cruz, F; Alioto, T; Piganeau, G; Grimsley, N; Yau, S (2021). Combining Nanopore and Illumina Sequencing Permits Detailed Analysis of Insertion Mutations and Structural Variations Produced by PEG-Mediated Transformation in Ostreococcus tauri. Cells, 10(3), 664-22. DOI: 10.3390/cells10030664https://doi.org/10.3390/cells10030664
The effect of age on the acquisition and selection of cancer driver mutations in sun-exposed normal skin2021-03-01Hernando, B; Dietzen, M; Parra, G; Gil-Barrachina, M; Pitarch, G; Mahiques, L; Valcuende-Cavero, F; McGranahan, N; Martinez-Cadenas, C (2021). The effect of age on the acquisition and selection of cancer driver mutations in sun-exposed normal skin. Annals Of Oncology, 32(3), 412-421. DOI: 10.1016/j.annonc.2020.11.023https://doi.org/10.1016/j.annonc.2020.11.023
Discovery of SNP markers of red shrimp Aristeus antennatus for population structure in Western Mediterranean Sea2021-03-01Catanese, G; Trotta, JR; Iriondo, M; Grau, AM; Estonba, A (2021). Discovery of SNP markers of red shrimp Aristeus antennatus for population structure in Western Mediterranean Sea. Conservation Genetics Resources, 13(1), 21-25. DOI: 10.1007/s12686-020-01178-0https://doi.org/10.1007/s12686-020-01178-0
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males2021-03-01Baldassarri, M; Picchiotti, N; Fava, F; Fallerini, C; Benetti, E; Daga, S; Valentino, F; Doddato, G; Furini, S; Giliberti, A; Tita, R; Amitrano, S; Br (2021). Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males. Ebiomedicine, 65(), 103246-. DOI: 10.1016/j.ebiom.2021.103246https://doi.org/10.1016/j.ebiom.2021.103246
Polymer modelling unveils the roles of heterochromatin and nucleolar organizing regions in shaping 3D genome organization in Arabidopsis thaliana2021-02-26Di Stefano, M; Nützmann, HW; Marti-Renom, MA; Jost, D (2021). Polymer modelling unveils the roles of heterochromatin and nucleolar organizing regions in shaping 3D genome organization in Arabidopsis thaliana. Nucleic Acids Research, 49(4), 1840-1858. DOI: 10.1093/nar/gkaa1275https://doi.org/10.1093/nar/gkaa1275
The genomics of ecological flexibility, large brains, and long lives in capuchin monkeys revealed with fecalFACS2021-02-16Orkin, JD; Montague, MJ; Tejada-Martinez, D; de Manuel, M; del Campo, J; Hernandez, SC; Di Fiore, A; Fontsere, C; Hodgson, JA; Janiak, MC; Kuderna, LF (2021). The genomics of ecological flexibility, large brains, and long lives in capuchin monkeys revealed with fecalFACS. Proceedings Of The National Academy Of Sciences Of The United States Of America, 118(7), e2010632118-. DOI: 10.1073/pnas.2010632118https://doi.org/10.1073/pnas.2010632118
Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease2021-02-08Kathiriya, IS; Rao, KS; Iacono, G; Devine, WP; Blair, AP; Hota, SK; Lai, MH; Garay, B; Thomas, R; Gong, HZ; Wasson, LK; Goyal, P; Sukonnik, T; Hu, KM; (2021). Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease. Developmental Cell, 56(3), 292-+. DOI: 10.1016/j.devcel.2020.11.020https://doi.org/10.1016/j.devcel.2020.11.020
De novo PORCN and ZIC2 mutations in a highly consanguineous family2021-02-01Castilla-Vallmanya, L; Gürsoy, S; Giray-Bozkaya, Ö; Prat-Planas, A; Bullich, G; Matalonga, L; Centeno-Pla, M; Rabionet, R; Grinberg, D; Balcells, S; U (2021). De novo PORCN and ZIC2 mutations in a highly consanguineous family. International Journal Of Molecular Sciences, 22(4), 1549-10. DOI: 10.3390/ijms22041549https://doi.org/10.3390/ijms22041549
A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer2021-02-01de Maturana, EL; Rodríguez, JA; Alonso, L; Lao, O; Molina-Montes, E; Martín-Antoniano, IA; Gómez-Rubio, P; Lawlor, R; Carrato, A; Hidalgo, M; Iglesias (2021). A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer. Genome Medicine, 13(1), 15-. DOI: 10.1186/s13073-020-00816-4https://doi.org/10.1186/s13073-020-00816-4
Dynamics of genome architecture and chromatin function during human B cell differentiation and neoplastic transformation2021-01-28Vilarrasa-Blasi, R; Soler-Vila, P; Verdaguer-Dot, N; Russiñol, N; Di Stefano, M; Chapaprieta, V; Clot, G; Farabella, I; Cuscó, P; Kulis, M; Agirre, X; (2021). Dynamics of genome architecture and chromatin function during human B cell differentiation and neoplastic transformation. Nature Communications, 12(1), 651-. DOI: 10.1038/s41467-020-20849-yhttps://doi.org/10.1038/s41467-020-20849-y
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease2021-01-22Gungor, S; Oktay, Y; Hiz, S; Aranguren-Ibáñez, A; Kalafatcilar, I; Yaramis, A; Karaca, E; Yis, U; Sonmezler, E; Ekinci, B; Aslan, M; Yilmaz, E; Özgör, (2021). Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease. Iscience, 24(1), 101948-. DOI: 10.1016/j.isci.2020.101948https://doi.org/10.1016/j.isci.2020.101948
RNA Sequencing and immunohistochemistry reveal ZFN7 as a stronger marker of survival than molecular subtypes in G-CIMP-negative glioblastoma2021-01-15Esteve-Codina, A; Alameda, F; Carrato, C; Pineda, E; Arpí, O; Martinez-García, M; Mallo, M; Gut, M; Dabad, M; Tortosa, A; Del Barco, S; Capellades, J; (2021). RNA Sequencing and immunohistochemistry reveal ZFN7 as a stronger marker of survival than molecular subtypes in G-CIMP-negative glioblastoma. Clinical Cancer Research, 27(2), 645-655. DOI: 10.1158/1078-0432.CCR-20-2141https://doi.org/10.1158/1078-0432.CCR-20-2141
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications2021-01-15Perea-Romero, I; Gordo, G; Iancu, IF; Del Pozo-Valero, M; Almoguera, B; Blanco-Kelly, F; Carreño, E; Jimenez-Rolando, B; Lopez-Rodriguez, R; Lorda-San (2021). Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Scientific Reports, 11(1), 1526-. DOI: 10.1038/s41598-021-81093-yhttps://doi.org/10.1038/s41598-021-81093-y
The order and logic of CD4 versus CD8 lineage choice and differentiation in mouse thymus2021-01-04Karimi, MM; Guo, Y; Cui, XK; Pallikonda, HA; Horková, V; Wang, YF; Gil, SR; Rodriguez-Esteban, G; Robles-Rebollo, I; Bruno, L; Georgieva, R; Patel, B; (2021). The order and logic of CD4 versus CD8 lineage choice and differentiation in mouse thymus. Nature Communications, 12(1), 99-. DOI: 10.1038/s41467-020-20306-whttps://doi.org/10.1038/s41467-020-20306-w
Hierarchical chromatin organization detected by TADpole2021-01-01Soler-Vila, P; Cuscó, P; Farabella, I; Di Stefano, M; Marti-Renom, MA (2021). Hierarchical chromatin organization detected by TADpole. Nucleic Acids Research, 48(7), e39-. DOI: 10.1093/nar/gkaa087https://doi.org/10.1093/nar/gkaa087
Analysis, modeling, and visualization of chromosome conformation capture experiments2021-01-01Di Stefano, M; Castillo, D; Serra, F; Farabella, I; Goodstadt, MN; Marti-Renom, MA (2021). Analysis, modeling, and visualization of chromosome conformation capture experiments. Methods In Molecular Biology, 2157(), 35-63. DOI: 10.1007/978-1-0716-0664-3_4https://doi.org/10.1007/978-1-0716-0664-3_4
Interleukin-4 and interleukin-13 induce different metabolic profiles in microglia and macrophages that relate with divergent outcomes after spinal cord injury2021-01-01Amo-Aparicio, J; Garcia-Garcia, J; Francos-Quijorna, I; Urpi, A; Esteve-Codina, A; Gut, M; Quintana, A; Lopez-Vales, R (2021). Interleukin-4 and interleukin-13 induce different metabolic profiles in microglia and macrophages that relate with divergent outcomes after spinal cord injury. Theranostics, 11(20), 9805-9820. DOI: 10.7150/thno.65203https://doi.org/10.7150/thno.65203
Multiple Genomic Events Altering Hominin SIGLEC Biology and Innate Immunity Predated the Common Ancestor of Humans and Archaic Hominins2021-01-01Khan, N; de Manuel, M; Peyregne, S; Do, R; Prufer, K; Marques-Bonet, T; Varki, N; Gagneux, P; Varki, A (2021). Multiple Genomic Events Altering Hominin SIGLEC Biology and Innate Immunity Predated the Common Ancestor of Humans and Archaic Hominins. Genome Biology And Evolution, 12(7), 1040-1050. DOI: 10.1093/gbe/evaa125https://doi.org/10.1093/gbe/evaa125
Dysregulation of GSK3 beta-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients2021-01-01Grande, V; Hathazi, D; O'Connor, E; Marteau, T; Schara-Schmidt, U; Hentschel, A; Gourdon, G; Nikolenko, N; Lochmuller, H; Roos, A (2021). Dysregulation of GSK3 beta-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients. J Neuromuscul Dis, 8(4), 603-619. DOI: 10.3233/JND-200558https://doi.org/10.3233/JND-200558
Exome-wide rare variant analysis in familial essential tremor2021-01-01Diez-Fairen, M; Houle, G; Ortega-Cubero, S; Bandres-Ciga, S; Alvarez, I; Carcel, M; Ibañez, L; Fernandez, MV; Budde, JP; Trotta, JR; Tonda, R; Chong, (2021). Exome-wide rare variant analysis in familial essential tremor. Parkinsonism & Related Disorders, 82(), 109-116. DOI: 10.1016/j.parkreldis.2020.11.021https://doi.org/10.1016/j.parkreldis.2020.11.021