TitleDateReferenceDOI
Novel mutation in the choroideremia gene and multi-mendelian phenotypes in Spanish families2018-10-01de Castro-Miró, M; Tonda, R; Marfany, G; Casaroli-Marano, RP; Gonzàlez-Duarte, R (2018). Novel mutation in the choroideremia gene and multi-mendelian phenotypes in Spanish families. British Journal Of Ophthalmology, 102(10), 1378-1386. DOI: 10.1136/bjophthalmol-2017-311427https://doi.org/10.1136/bjophthalmol-2017-311427
Challenges and guidelines toward 4D nucleome data and model standards2018-10-01Marti-Renom, MA; Almouzni, G; Bickmore, WA; Bystricky, K; Cavalli, G; Fraser, P; Gasser, SM; Giorgetti, L; Heard, E; Nicodemi, M; Nollmann, M; Orozco, (2018). Challenges and guidelines toward 4D nucleome data and model standards. Nature Genetics, 50(10), 1352-1358. DOI: 10.1038/s41588-018-0236-3https://doi.org/10.1038/s41588-018-0236-3
Promoter bivalency favors an open chromatin architecture in embryonic stem cells2018-10-01Mas, G; Blanco, E; Ballaré, C; Sansó, M; Spill, YG; Hu, DQ; Aoi, Y; Le Dily, F; Shilatifard, A; Marti-Renom, MA; Di Croce, L (2018). Promoter bivalency favors an open chromatin architecture in embryonic stem cells. Nature Genetics, 50(10), 1452-+. DOI: 10.1038/s41588-018-0218-5https://doi.org/10.1038/s41588-018-0218-5
Epigenetic prediction of response to anti-PD-1 treatment in non-small-cell lung cancer: a multicentre, retrospective analysis.2018-10-01Duruisseaux, M; Martínez-Cardús, A; Calleja-Cervantes, ME; Moran, S; de Moura, MC; Davalos, V; Piñeyro, D; Sanchez-Cespedes, M; Girard, N; Brevet, M; (2018). Epigenetic prediction of response to anti-PD-1 treatment in non-small-cell lung cancer: a multicentre, retrospective analysis.. Lancet Respiratory Medicine, 6(10), 771-781. DOI: 10.1016/s2213-2600(18)30284-4https://doi.org/10.1016/S2213-2600(18)30284-4
MET-Oncogenic and JAK2-Inactivating Alterations Are Independent Factors That Affect Regulation of PD-L1 Expression in Lung Cancer.2018-09-15Saigi, M; Alburquerque-Bejar, JJ; Mc Leer-Florin, A; Pereira, C; Pros, E; Romero, OA; Baixeras, N; Esteve-Codina, A; Nadal, E; Brambilla, E; Sanchez-C (2018). MET-Oncogenic and JAK2-Inactivating Alterations Are Independent Factors That Affect Regulation of PD-L1 Expression in Lung Cancer.. Clinical Cancer Research, 24(18), 4579-4587. DOI: 10.1158/1078-0432.CCR-18-0267https://doi.org/10.1158/1078-0432.CCR-18-0267
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease2018-09-05Wood, L; Bassez, G; Bleyenheuft, C; Campbell, C; Cossette, L; Jimenez-Moreno, AC; Dai, Y; Dawkins, H; Manera, JAD; Dogan, C; el Sherif, R; Fossati, B; (2018). Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet Journal Of Rare Diseases, 13(1), 155-. DOI: 10.1186/s13023-018-0889-0https://doi.org/10.1186/s13023-018-0889-0
Dynamics of Transcription Regulation in Human Bone Marrow Myeloid Differentiation to Mature Blood Neutrophils2018-09-04Grassi, L; Pourfarzad, F; Ullrich, S; Merkel, A; Were, F; Carrillo-de-Santa-Pau, E; Yi, GQ; Hiemstra, IH; Tool, ATJ; Mul, E; Perner, J; Janssen-Megens (2018). Dynamics of Transcription Regulation in Human Bone Marrow Myeloid Differentiation to Mature Blood Neutrophils. Cell Reports, 24(10), 2784-2794. DOI: 10.1016/j.celrep.2018.08.018https://doi.org/10.1016/j.celrep.2018.08.018
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice2018-09-01Issop, Y; Hathazi, D; Khan, MM; Rudolf, R; Weis, J; Spendiff, S; Slater, CR; Roos, A; Lochmüller, H (2018). GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. Human Molecular Genetics, 27(18), 3218-3232. DOI: 10.1093/hmg/ddy225https://doi.org/10.1093/hmg/ddy225
The neutral frequency spectrum of linked sites2018-09-01Ferretti, L; Klassmann, A; Raineri, E; Ramos-Onsins, SE; Wiehe, T; Achaz, G (2018). The neutral frequency spectrum of linked sites. Theoretical Population Biology, 123(), 70-79. DOI: 10.1016/j.tpb.2018.06.001https://doi.org/10.1016/j.tpb.2018.06.001
On the path to extinction: Inbreeding and admixture in a declining grey wolf population2018-09-01Gómez-Sánchez, D; Olalde, I; Sastre, N; Enseñat, C; Carrasco, R; Marques-Bonet, T; Lalueza-Fox, C; Leonard, JA; Vilà, C; Ramírez, O (2018). On the path to extinction: Inbreeding and admixture in a declining grey wolf population. Molecular Ecology, 27(18), 3599-3612. DOI: 10.1111/mec.14824https://doi.org/10.1111/mec.14824
Biochemical and pathological changes result from mutated Caveolin-3 in muscle2018-08-28Coraspe, JAG; Weis, J; Anderson, ME; Münchberg, U; Lorenz, K; Buchkremer, S; Carr, S; Zahedi, RP; Brauers, E; Michels, H; Sunada, Y; Lochmüller, H; Ca (2018). Biochemical and pathological changes result from mutated Caveolin-3 in muscle. Skeletal Muscle, 8(1), 28-. DOI: 10.1186/s13395-018-0173-yhttps://doi.org/10.1186/s13395-018-0173-y
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