TitleDateAuthorsDOI
Lamin B1 mapping reveals the existence of dynamic and functional euchromatin lamin B1 domains2018-08-24Pascual-Reguant, L; Blanco, E; Galan, S; Le Dily, F; Cuartero, Y; Serra-Bardenys, G; Di Carlo, V; Iturbide, A; Cebrià-Costa, JP; Nonell, L; de Herrero (2018). Lamin B1 mapping reveals the existence of dynamic and functional euchromatin lamin B1 domains. Nature Communications, 9(1), 3420-. DOI: 10.1038/s41467-018-05912-zhttps://doi.org/10.1038/s41467-018-05912-z
FaStore: a space-saving solution for raw sequencing data2018-08-15Roguski, L; Ochoa, I; Hernaez, M; Deorowicz, S (2018). FaStore: a space-saving solution for raw sequencing data. Bioinformatics, 34(16), 2748-2756. DOI: 10.1093/bioinformatics/bty205https://doi.org/10.1093/bioinformatics/bty205
Phenomic and Genomic Characterization of a Mutant Platform in Cucurbita pepo2018-08-03García, A; Aguado, E; Parra, G; Manzano, S; Martínez, C; Megías, Z; Cebrián, G; Romero, J; Beltrán, S; Garrido, D; Jamilena, M (2018). Phenomic and Genomic Characterization of a Mutant Platform in Cucurbita pepo. Frontiers In Plant Science, 9(1049), 1049-1049. DOI: 10.3389/fpls.2018.01049https://doi.org/10.3389/fpls.2018.01049
The High-Quality Genome Sequence of the Oceanic Island Endemic Species Drosophila guanche Reveals Signals of Adaptive Evolution in Genes Related to Flight and Genome Stability2018-08-01Puerma, E; Orengo, DJ; Cruz, F; Gómez-Garrido, J; Librado, P; Salguero, D; Papaceit, M; Gut, M; Segarra, C; Alioto, TS; Aguadé, M (2018). The High-Quality Genome Sequence of the Oceanic Island Endemic Species Drosophila guanche Reveals Signals of Adaptive Evolution in Genes Related to Flight and Genome Stability. Genome Biology And Evolution, 10(8), 1956-1969. DOI: 10.1093/gbe/evy135https://doi.org/10.1093/gbe/evy135
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c2018-08-01Chamova, T; Bichev, S; Todorov, T; Gospodinova, M; Taneva, A; Kastreva, K; Zlatareva, D; Krupev, M; Hadjiivanov, R; Guergueltcheva, V; Grozdanova, L; (2018). Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c. Neuromuscular Disorders, 28(8), 625-632. DOI: 10.1016/j.nmd.2018.05.005https://doi.org/10.1016/j.nmd.2018.05.005
Biological Processes Modulating Longevity across Primates: A Phylogenetic Genome-Phenome Analysis2018-08-01Muntané, G; Farré, X; Rodríguez, JA; Pegueroles, C; Hughes, DA; de Magalhaes, JP; Gabaldón, T; Navarro, A (2018). Biological Processes Modulating Longevity across Primates: A Phylogenetic Genome-Phenome Analysis. Molecular Biology And Evolution, 35(8), 1990-2004. DOI: 10.1093/molbev/msy105https://doi.org/10.1093/molbev/msy105
Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial2018-08-01Okkersen, K; Jimenez-Moreno, C; Wenninger, S; Daidj, F; Glennon, J; Cumming, S; Littleford, R; Monckton, DG; Lochmüller, H; Catt, M; Faber, CG; Hapca, (2018). Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. Lancet Neurology, 17(8), 671-680. DOI: 10.1016/s1474-4422(18)30203-5https://doi.org/10.1016/S1474-4422(18)30203-5
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness2018-07-01Owen, D; Töpf, A; Preethish-Kumar, V; Lorenzoni, PJ; Vroling, B; Scola, RH; Dias-Tosta, E; Geraldo, A; Polavarapu, K; Nashi, S; Cox, D; Evangelista, T (2018). Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness. American Journal Of Medical Genetics Part a, 176(7), 1594-1601. DOI: 10.1002/ajmg.a.38707https://doi.org/10.1002/ajmg.a.38707
Consistent inverse correlation between DNA methylation of the first intron and gene expression across tissues and species2018-06-29Anastasiadi, D; Esteve-Codina, A; Piferrer, F (2018). Consistent inverse correlation between DNA methylation of the first intron and gene expression across tissues and species. Epigenetics & Chromatin, 11(1), 37-. DOI: 10.1186/s13072-018-0205-1https://doi.org/10.1186/s13072-018-0205-1
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons2018-06-15Boczonadi, V; Meyer, K; Gonczarowska-Jorge, H; Griffin, H; Roos, A; Bartsakoulia, M; Bansagi, B; Ricci, G; Palinkas, F; Zahedi, RP; Bruni, F; Kaspar, (2018). Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons. Human Molecular Genetics, 27(12), 2187-2204. DOI: 10.1093/hmg/ddy127https://doi.org/10.1093/hmg/ddy127
bigSCale: an analytical framework for big-scale single-cell data2018-06-01Iacono, G; Mereu, E; Guillaumet-Adkins, A; Corominas, R; Cuscó, I; Rodríguez-Esteban, G; Gut, M; Pérez-Jurado, LA; Gut, I; Heyn, H (2018). bigSCale: an analytical framework for big-scale single-cell data. Genome Research, 28(6), 878-890. DOI: 10.1101/gr.230771.117https://doi.org/10.1101/gr.230771.117
Distinct roles of cohesin-SA1 and cohesin-SA2 in 3D chromosome organization2018-06-01Kojic, A; Cuadrado, A; De Koninck, M; Giménez-Llorente, D; Rodríguez-Corsino, M; Gómez-López, G; Le Dily, F; Marti-Renom, MA; Losada, A (2018). Distinct roles of cohesin-SA1 and cohesin-SA2 in 3D chromosome organization. Nature Structural & Molecular Biology, 25(6), 496-+. DOI: 10.1038/s41594-018-0070-4https://doi.org/10.1038/s41594-018-0070-4
A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus2018-06-01Mainil, I; Farnetti, E; Caraffi, SG; Ivanovski, I; De Bernardi, ML; Gelmini, C; Rosato, S; Laurie, S; Matalonga, L; Baldo, C; Garavelli, L (2018). A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus. Neuropediatrics, 49(3), 222-224. DOI: 10.1055/s-0038-1641722https://doi.org/10.1055/s-0038-1641722
The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia2018-06-01Beekman, R; Chapaprieta, V; Russiñol, N; Vilarrasa-Blasi, R; Verdaguer-Dot, N; Martens, JHA; Duran-Ferrer, M; Kulis, M; Serra, F; Javierre, BM; Winget (2018). The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia. Nature Medicine, 24(6), 868-+. DOI: 10.1038/s41591-018-0028-4https://doi.org/10.1038/s41591-018-0028-4
Multi-omics profiling reveals a distinctive epigenome signature for high-risk acute promyelocytic leukemia2018-05-22Singh AA, Petraglia F, Nebbioso A, Yi G, Conte M, Valente S, Mandoli A, Scisciola L, Lindeboom R, Kerstens H, Janssen-Megens EM, Pourfarzad F, Habibi (2018). Multi-omics profiling reveals a distinctive epigenome signature for high-risk acute promyelocytic leukemia. Oncotarget, 9(39), 25647-25660. DOI: 10.18632/oncotarget.25429https://doi.org/10.18632/oncotarget.25429
Combined HAT/EZH2 modulation leads to cancer-selective cell death2018-05-22Petraglia F, Singh AA, Carafa V, Nebbioso A, Conte M, Scisciola L, Valente S, Baldi A, Mandoli A, Petrizzi VB, Ingenito C, De Falco S, Cicatiello V, A (2018). Combined HAT/EZH2 modulation leads to cancer-selective cell death. Oncotarget, 9(39), 25630-25646. DOI: 10.18632/oncotarget.25428https://doi.org/10.18632/oncotarget.25428
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation2018-05-22Bansagi, B; Phan, V; Baker, MR; O'Sullivan, J; Jennings, MJ; Whittaker, RG; Müller, JS; Duff, J; Griffin, H; Miller, JAL; Gorman, GS; Lochmüller, H; C (2018). Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation. Neurology, 90(21), E1842-E1848. DOI: 10.1212/WNL.0000000000005566https://doi.org/10.1212/WNL.0000000000005566
Evaluating the genetics of common variable immunodeficiency: Monogenetic model and beyond2018-05-14de Valles-Ibáñez, G; Esteve-Solé, A; Piquer, M; González-Navarro, EA; Hernandez-Rodriguez, J; Laayouni, H; González-Roca, E; Plaza-Martin, AM; Deyà-Ma (2018). Evaluating the genetics of common variable immunodeficiency: Monogenetic model and beyond. Frontiers In Immunology, 9(MAY), 636-. DOI: 10.3389/fimmu.2018.00636https://doi.org/10.3389/fimmu.2018.00636
Whole genome sequencing in the search for genes associated with the control of SIV infection in the Mauritian macaque model2018-05-08de Manuel, M; Shiina, T; Suzuki, S; Dereuddre-Bosquet, N; Garchon, HJ; Tanaka, M; Congy-Jolivet, N; Aarnink, A; Le Grand, R; Marques-Bonet, T; Blanche (2018). Whole genome sequencing in the search for genes associated with the control of SIV infection in the Mauritian macaque model. Scientific Reports, 8(1), 7131-. DOI: 10.1038/s41598-018-25071-xhttps://doi.org/10.1038/s41598-018-25071-x
OneD: increasing reproducibility of Hi-C samples with abnormal karyotypes2018-05-04Vidal, E; le Dily, F; Quilez, J; Stadhouders, R; Cuartero, Y; Graf, T; Marti-Renom, MA; Beato, M; Filion, GJ (2018). OneD: increasing reproducibility of Hi-C samples with abnormal karyotypes. Nucleic Acids Research, 46(8), e49-. DOI: 10.1093/nar/gky064https://doi.org/10.1093/nar/gky064