TitleDateReferenceDOI
Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series.2019-05-30Fages A; Hanghøj K; Khan N; Gaunitz C; Seguin-Orlando A; Leonardi M; McCrory Constantz C; Gamba C; Al-Rasheid KAS; Albizuri S; Alfarhan AH; Allentoft (2019). Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series.. Cell, 177(6), 1419-1435.e31. DOI: https://doi.org/10.1016/j.cell.2019.03.049https://doi.org/https://doi.org/10.1016/j.cell.2019.03.049
Linking Cell Dynamics With Gene Coexpression Networks to Characterize Key Events in Chronic Virus Infections2019-05-03Pedragosa, M; Riera, G; Casella, V; Esteve-Codina, A; Steuerman, Y; Seth, C; Bocharov, G; Heath, S; Gat-Viks, I; Argilaguet, J; Meyerhans, A (2019). Linking Cell Dynamics With Gene Coexpression Networks to Characterize Key Events in Chronic Virus Infections. Frontiers In Immunology, 10(MAY), 1002-. DOI: 10.3389/fimmu.2019.01002https://doi.org/10.3389/fimmu.2019.01002
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI2019-05-01Saredi, S; Gibertini, S; Matalonga, L; Farina, L; Ardissone, A; Moroni, I; Mora, M (2019). Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI. Neuromuscular Disorders, 29(5), 376-380. DOI: 10.1016/j.nmd.2019.04.001https://doi.org/10.1016/j.nmd.2019.04.001
A roadmap for high-throughput sequencing studies of wild animal populations using noninvasive samples and hybridization capture2019-05-01White, LC; Fontsere, C; Lizano, E; Hughes, DA; Angedakin, S; Arandjelovic, M; Granjon, AC; Hans, JB; Lester, JD; Rabanus-Wallace, MT; Rowney, C; Städe (2019). A roadmap for high-throughput sequencing studies of wild animal populations using noninvasive samples and hybridization capture. Molecular Ecology Resources, 19(3), 609-622. DOI: 10.1111/1755-0998.12993https://doi.org/10.1111/1755-0998.12993
Congenital myasthenic syndrome caused by novel COL13A1 mutations2019-05-01Dusl, M; Moreno, T; Muneii, F; Macaya, A; Gratacós, M; Abicht, A; Strom, TM; Lochmüller, H; Senderek, J (2019). Congenital myasthenic syndrome caused by novel COL13A1 mutations. Journal Of Neurology, 266(5), 1107-1112. DOI: 10.1007/s00415-019-09239-7https://doi.org/10.1007/s00415-019-09239-7
MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses2019-05-01Oury, J; Liu, Y; Töpf, A; Todorovic, S; Hoedt, E; Preethish-Kumar, V; Neubert, TA; Lin, WC; Lochmüller, H; Burden, SJ (2019). MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses. Journal Of Cell Biology, 218(5), 1686-1705. DOI: 10.1083/jcb.201810023https://doi.org/10.1083/jcb.201810023
237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 20182019-05-01Pogoryelova, O; Urtizberea, JA; Argov, Z; Nishino, I; Lochmüller, H; Urtizberea, JA; Roos, A; Willems, A; Béhin, A; Udd, B; Landfeldt, E; Mansbach, H; (2019). 237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018. Neuromuscular Disorders, 29(5), 401-410. DOI: 10.1016/j.nmd.2019.02.010https://doi.org/10.1016/j.nmd.2019.02.010
Binless normalization of Hi-C data provides significant interaction and difference detection independent of resolution2019-04-26Spill, YG; Castillo, D; Vidal, E; Marti-Renom, MA (2019). Binless normalization of Hi-C data provides significant interaction and difference detection independent of resolution. Nature Communications, 10(1), 1938-. DOI: 10.1038/s41467-019-09907-2https://doi.org/10.1038/s41467-019-09907-2
Whole-genome sequence analysis of a Pan African set of samples reveals archaic gene flow from an extinct basal population of modern humans into sub-Saharan populations2019-04-26Lorente-Galdos, B; Lao, O; Serra-Vidal, G; Santpere, G; Kuderna, LFK; Arauna, LR; Fadhlaoui-Zid, K; Pimenoff, VN; Soodyall, H; Zalloua, P; Marques-Bon (2019). Whole-genome sequence analysis of a Pan African set of samples reveals archaic gene flow from an extinct basal population of modern humans into sub-Saharan populations. Genome Biology, 20(1), 77-. DOI: 10.1186/s13059-019-1684-5https://doi.org/10.1186/s13059-019-1684-5
Epigenetic loss of the endoplasmic reticulum-associated degradation inhibitor SVIP induces cancer cell metabolic reprogramming2019-04-18Llinàs-Arias, P; Rosselló-Tortella, M; López-Serra, P; Pérez-Salvia, M; Setién, F; Marin, S; Muñoz, JP; Junza, A; Capellades, J; Calleja-Cervantes, ME (2019). Epigenetic loss of the endoplasmic reticulum-associated degradation inhibitor SVIP induces cancer cell metabolic reprogramming. Jci Insight, 4(8), e125888-. DOI: 10.1172/jci.insight.125888https://doi.org/10.1172/jci.insight.125888
Labelled regulatory elements are pervasive features of the macrophage genome and are dynamically utilized by classical and alternative polarization signals2019-04-08Horvath, A; Daniel, B; Szeles, L; Cuaranta-Monroy, I; Czimmerer, Z; Ozgyin, L; Steiner, L; Kiss, M; Simandi, Z; Poliska, S; Giannakis, N; Raineri, E; (2019). Labelled regulatory elements are pervasive features of the macrophage genome and are dynamically utilized by classical and alternative polarization signals. Nucleic Acids Research, 47(6), 2778-2792. DOI: 10.1093/nar/gkz118https://doi.org/10.1093/nar/gkz118
Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions2019-04-01Han, S; Andrés, AM; Marques-Bonet, T; Kuhlwilm, M (2019). Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions. Genome Biology And Evolution, 11(4), 1178-1191. DOI: 10.1093/gbe/evz047https://doi.org/10.1093/gbe/evz047
Genetic Abnormalities in Large to Giant Congenital Nevi: Beyond NRAS mutations2019-04-01da Silva, VM; Martinez-Barrios, E; Tell-Martí, G; Dabad, M; Carrera, C; Aguilera, P; Brualla, D; Esteve-Codina, A; Vicente, A; Puig, S; Puig-Butillé, (2019). Genetic Abnormalities in Large to Giant Congenital Nevi: Beyond NRAS mutations. Journal Of Investigative Dermatology, 139(4), 900-908. DOI: 10.1016/j.jid.2018.07.045https://doi.org/10.1016/j.jid.2018.07.045
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation2019-04-01Dominov, JA; Uyan, Ö; McKenna-Yasek, D; Nallamilli, BRR; Kergourlay, V; Bartoli, M; Levy, N; Hudson, J; Evangelista, T; Lochmuller, H; Krahn, M; Rufib (2019). Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Annals Of Clinical And Translational Neurology, 6(4), 642-654. DOI: 10.1002/acn3.738https://doi.org/10.1002/acn3.738
Single cell RNA-seq identifies the origins of heterogeneity in efficient cell transdifferentiation and reprogramming2019-03-12Francesconi, M; Di Stefano, B; Berenguer, C; de Andrés-Aguayo, L; Plana-Carmona, M; Mendez-Lago, M; Guillaumet-Adkins, A; Rodriguez-Esteban, G; Gut, M (2019). Single cell RNA-seq identifies the origins of heterogeneity in efficient cell transdifferentiation and reprogramming. Elife, 8(), e41627-. DOI: 10.7554/eLife.41627https://doi.org/10.7554/eLife.41627
Evaluation of the Magicplex™ Sepsis Real-Time Test for the Rapid Diagnosis of Bloodstream Infections in Adults2019-03-12Zboromyrska, Y; Cillóniz, C; Cobos-Trigueros, N; Almela, M; Hurtado, JC; Vergara, A; Mata, C; Soriano, A; Mensa, J; Marco, F; Vila, J (2019). Evaluation of the Magicplex™ Sepsis Real-Time Test for the Rapid Diagnosis of Bloodstream Infections in Adults. Frontiers In Cellular And Infection Microbiology, 9(MAR), 56-. DOI: 10.3389/fcimb.2019.00056https://doi.org/10.3389/fcimb.2019.00056
Systems Genetics of Hepatic Metabolome Reveals Octopamine as a Target for Non-Alcoholic Fatty Liver Disease Treatment2019-03-06Brial, F; Le Lay, A; Hedjazi, L; Tsang, T; Fearnside, JF; Otto, GW; Alzaid, F; Wilder, SP; Venteclef, N; Cazier, JB; Nicholson, JK; Day, C; Burt, AD; (2019). Systems Genetics of Hepatic Metabolome Reveals Octopamine as a Target for Non-Alcoholic Fatty Liver Disease Treatment. Scientific Reports, 9(1), 3656-. DOI: 10.1038/s41598-019-40153-0https://doi.org/10.1038/s41598-019-40153-0
gemBS: high throughput processing for DNA methylation data from bisulfite sequencing2019-03-01Merkel, A; Fernández-Callejo, M; Casals, E; Marco-Sola, S; Schuyler, R; Gut, IG; Heath, SC (2019). gemBS: high throughput processing for DNA methylation data from bisulfite sequencing. Bioinformatics, 35(5), 737-742. DOI: 10.1093/bioinformatics/bty690https://doi.org/10.1093/bioinformatics/bty690
Epigenetic regulation of gene expression in Chinese Hamster Ovary cells in response to the changing environment of a batch culture2019-03-01Hernandez, I; Dhiman, H; Klanert, G; Jadhav, V; Auer, N; Hanscho, M; Baumann, M; Esteve-Codina, A; Dabad, M; Gómez, J; Alioto, T; Merkel, A; Raineri, (2019). Epigenetic regulation of gene expression in Chinese Hamster Ovary cells in response to the changing environment of a batch culture. Biotechnology And Bioengineering, 116(3), 677-692. DOI: 10.1002/bit.26891https://doi.org/10.1002/bit.26891
European sea bass brain DLB-1 cell line is susceptible to nodavirus: A transcriptomic study2019-03-01Chaves-Pozo, E; Bandín, I; Olveira, JG; Esteve-Codina, A; Gómez-Garrido, J; Dabad, M; Alioto, T; Esteban, MA; Cuesta, A (2019). European sea bass brain DLB-1 cell line is susceptible to nodavirus: A transcriptomic study. Fish & Shellfish Immunology, 86(), 14-24. DOI: 10.1016/j.fsi.2018.11.024https://doi.org/10.1016/j.fsi.2018.11.024