TitleDateAuthorsDOI
The Genomic Footprints of the Fall and Recovery of the Crested Ibis2019-01-21Feng, SH; Fang, Q; Barnett, R; Li, C; Han, SJ; Kuhlwilm, M; Zhou, L; Pan, HL; Deng, Y; Chen, GJ; Gamauf, A; Woog, F; Prys-Jones, R; Marques-Bonet, T; (2019). The Genomic Footprints of the Fall and Recovery of the Crested Ibis. Current Biology, 29(2), 340-+. DOI: 10.1016/j.cub.2018.12.008https://doi.org/10.1016/j.cub.2018.12.008
Approximate Bayesian computation with deep learning supports a third archaic introgression in Asia and Oceania2019-01-16Mondal, M; Bertranpetit, J; Lao, O (2019). Approximate Bayesian computation with deep learning supports a third archaic introgression in Asia and Oceania. Nature Communications, 10(1), 246-. DOI: 10.1038/s41467-018-08089-7https://doi.org/10.1038/s41467-018-08089-7
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources2019-01-08Köhler, S; Carmody, L; Vasilevsky, N; Jacobsen, JOB; Danis, D; Gourdine, JP; Gargano, M; Harris, NL; Matentzoglu, N; McMurry, JA; Osumi-Sutherland, D; (2019). Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Research, 47(D1), D1018-D1027. DOI: 10.1093/nar/gky1105https://doi.org/10.1093/nar/gky1105
Historical Genomes Reveal the Genomic Consequences of Recent Population Decline in Eastern Gorillas2019-01-07van der Valk, T; Díez-del-Molino, D; Marques-Bonet, T; Guschanski, K; Dalén, L (2019). Historical Genomes Reveal the Genomic Consequences of Recent Population Decline in Eastern Gorillas. Current Biology, 29(1), 165-+. DOI: 10.1016/j.cub.2018.11.055https://doi.org/10.1016/j.cub.2018.11.055
Selective single molecule sequencing and assembly of a human Y chromosome of African origin2019-01-02Kuderna, LFK; Lizano, E; Julià, E; Gomez-Garrido, J; Serres-Armero, A; Kuhlwilm, M; Alandes, RA; Alvarez-Estape, M; Juan, D; Simon, H; Alioto, T; Gut, (2019). Selective single molecule sequencing and assembly of a human Y chromosome of African origin. Nature Communications, 10(1), 4-. DOI: 10.1038/s41467-018-07885-5https://doi.org/10.1038/s41467-018-07885-5
Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome2019-01-01Aguilera, C; Gabau, E; Laurie, S; Baena, N; Derdak, S; Capdevila, N; Ramirez, A; Delgadillo, V; García-Catalan, MJ; Brun, C; Guitart, M; Ruiz, A (2019). Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome. Molecular Genetics & Genomic Medicine, 7(1), e511-. DOI: 10.1002/mgg3.511https://doi.org/10.1002/mgg3.511
Hormone-control regions mediate steroid receptor-dependent genome organization2019-01-01Le Dily, F; Vidal, E; Cuartero, Y; Quilez, J; Nacht, AS; Vicent, GP; Carbonell-Caballero, J; Sharma, P; Villanueva-Cañas, JL; Ferrari, R; De Llobet, L (2019). Hormone-control regions mediate steroid receptor-dependent genome organization. Genome Research, 29(1), 29-39. DOI: 10.1101/gr.243824.118https://doi.org/10.1101/gr.243824.118
Rapid reversible changes in compartments and local chromatin organization revealed by hyperosmotic shock2019-01-01Amat, R; Böttcher, R; Le Dily, F; Vidal, E; Quilez, J; Cuartero, Y; Beato, M; de Nadal, E; Posas, F (2019). Rapid reversible changes in compartments and local chromatin organization revealed by hyperosmotic shock. Genome Research, 29(1), 18-28. DOI: 10.1101/gr.238527.118https://doi.org/10.1101/gr.238527.118
Survival patterns and cancer determinants in families with myotonic dystrophy type 12019-01-01Best, AF; Hilbert, JE; Wood, L; Martens, WB; Nikolenko, N; Marini-Bettolo, C; Lochmüller, H; Rosenberg, PS; Moxley, RT; Greene, MH; Gadalla, SM (2019). Survival patterns and cancer determinants in families with myotonic dystrophy type 1. European Journal Of Neurology, 26(1), 58-65. DOI: 10.1111/ene.13763https://doi.org/10.1111/ene.13763
A FBN1 3′UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome2019-01-01Siegert, AM; Díaz-Barriga, GG; Esteve-Codina, A; Navas-Madronal, M; del Blanco, DG; Alberch, J; Heath, S; Galán, M; Egea, G (2019). A FBN1 3′UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome. Biochimica Et Biophysica Acta-Molecular Basis Of Disease, 1865(1), 107-114. DOI: 10.1016/j.bbadis.2018.10.029https://doi.org/10.1016/j.bbadis.2018.10.029
Mutational Profile of Aggressive, Localised Prostate Cancer from African Caribbean Men Versus European Ancestry Men2019-01-01Tonon, L; Fromont, G; Boyault, S; Thomas, E; Ferrari, A; Sertier, AS; Kielbassa, J; Le Texier, V; Kamoun, A; Elarouci, N; Irani, J; Multigner, L; Gut, (2019). Mutational Profile of Aggressive, Localised Prostate Cancer from African Caribbean Men Versus European Ancestry Men. European Urology, 75(1), 11-15. DOI: 10.1016/j.eururo.2018.08.026https://doi.org/10.1016/j.eururo.2018.08.026
Giant tortoise genomes provide insights into longevity and age-related disease2019-01-01Quesada, V; Freitas-Rodríguez, S; Miller, J; Pérez-Silva, JG; Jiang, ZF; Tapia, W; Santiago-Fernández, O; Campos-Iglesias, D; Kuderna, LFK; Quinzin, M (2019). Giant tortoise genomes provide insights into longevity and age-related disease. Nature Ecology & Evolution, 3(1), 87-95. DOI: 10.1038/s41559-018-0733-xhttps://doi.org/10.1038/s41559-018-0733-x
The comparative genomics and complex population history of Papio baboons2019-01-01Rogers, J; Raveendran, M; Harris, RA; Mailund, T; Leppälä, K; Athanasiadis, G; Schierup, MH; Cheng, J; Munch, K; Walker, JA; Konkel, MK; Jordan, V; St (2019). The comparative genomics and complex population history of Papio baboons. Science Advances, 5(1), eaau6947-. DOI: 10.1126/sciadv.aau6947https://doi.org/10.1126/sciadv.aau6947
Spatiotemporal transcriptomic divergence across human and macaque brain development2018-12-14Zhu, Y; Sousa, AMM; Gao, TLY; Skarica, M; Li, MF; Santpere, G; Esteller-Cucala, P; Juan, D; Ferrández-Peral, L; Gulden, FO; Yang, M; Miller, DJ; Marqu (2018). Spatiotemporal transcriptomic divergence across human and macaque brain development. Science, 362(6420), 1267-+. DOI: 10.1126/science.aat8077https://doi.org/10.1126/science.aat8077
Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD2018-12-07Coenen-Stass, AML; Sork, H; Gatto, S; Godfrey, C; Bhomra, A; Krjutskov, K; Hart, JR; Westholm, JO; O'Donovan, L; Roos, A; Lochmüller, H; Puri, PL; EL (2018). Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD. Molecular Therapy-Nucleic Acids, 13(), 1-15. DOI: 10.1016/j.omtn.2018.08.005https://doi.org/10.1016/j.omtn.2018.08.005
SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition2018-12-01Karaky, M; Fedetz, M; Potenciano, V; Andrés-León, E; Codina, AE; Barrionuevo, C; Alcina, A; Matesanz, F (2018). SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition. Human Molecular Genetics, 27(23), 4012-4023. DOI: 10.1093/hmg/ddy284https://doi.org/10.1093/hmg/ddy284
Dose-dependent transcriptomic responses of zebrafish eleutheroembryos to Bisphenol A2018-12-01Martínez, R; Esteve-Codina, A; Herrero-Nogareda, L; Ortiz-Villanueva, E; Barata, C; Tauler, R; Raldúa, D; Piña, B; Navarro-Martín, L (2018). Dose-dependent transcriptomic responses of zebrafish eleutheroembryos to Bisphenol A. Environmental Pollution, 243(pt b), 988-997. DOI: 10.1016/j.envpol.2018.09.043https://doi.org/10.1016/j.envpol.2018.09.043
Walking along chromosomes with super-resolution imaging, contact maps, and integrative modeling2018-12-01Nir, G; Farabella, I; Estrada, CP; Ebeling, CG; Beliveau, BJ; Sasaki, HM; Lee, SD; Nguyen, SC; McCole, RB; Chattoraj, S; Erceg, J; Abed, JA; Martins, (2018). Walking along chromosomes with super-resolution imaging, contact maps, and integrative modeling. Plos Genetics, 14(12), e1007872-. DOI: 10.1371/journal.pgen.1007872https://doi.org/10.1371/journal.pgen.1007872
Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C2018-12-01Cipriani, S; Phan, V; Médard, JJ; Horvath, R; Lochmüller, H; Chrast, R; Roos, A; Spendiff, S (2018). Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C. International Journal Of Molecular Sciences, 19(12), 4072-. DOI: 10.3390/ijms19124072https://doi.org/10.3390/ijms19124072
Scientific Business Abstracts2018-12-01[Anonymous] (2018). Scientific Business Abstracts. Qjm-An International Journal Of Medicine, 111(12), 920-924. DOI: 10.1093/qjmed/hcy193https://doi.org/10.1093/qjmed/hcy193