TitleDateReferenceDOI
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
PM20D1 is a quantitative trait locus associated with Alzheimer’s disease2018-05-01Sanchez-Mut, JV; Heyn, H; Silva, BA; Dixsaut, L; Garcia-Esparcia, P; Vidal, E; Sayols, S; Glauser, L; Monteagudo-Sánchez, A; Perez-Tur, J; Ferrer, I; (2018). PM20D1 is a quantitative trait locus associated with Alzheimer’s disease. Nature Medicine, 24(5), 598-+. DOI: 10.1038/s41591-018-0013-yhttps://doi.org/10.1038/s41591-018-0013-y
Characterization of Iodine-related molecular processes in the marine microalga Tisochrysis lutea (Haptophyta)2018-04-24Javier, LH; Benzekri, H; Gut, M; Claros, MG; van Bergeijk, S; Cañavate, JP; Manchado, M (2018). Characterization of Iodine-related molecular processes in the marine microalga Tisochrysis lutea (Haptophyta). Frontiers In Marine Science, 5(APR), 134-. DOI: 10.3389/fmars.2018.00134https://doi.org/10.3389/fmars.2018.00134
Deciphering the mechanism of action of 089, a compound impairing the fungal cell cycle2018-04-13Stefanini, I; Rizzetto, L; Rivero, D; Carbonell, S; Gut, M; Heath, S; Gut, IG; Trabocchi, A; Guarna, A; Ben Ghazzi, N; Bowyer, P; Kapushesky, M; Caval (2018). Deciphering the mechanism of action of 089, a compound impairing the fungal cell cycle. Scientific Reports, 8(1), 5964-. DOI: 10.1038/s41598-018-24341-yhttps://doi.org/10.1038/s41598-018-24341-y
Machine Learning Identifies Stemness Features Associated with Oncogenic Dedifferentiation2018-04-05Malta, TM; Sokolov, A; Gentles, AJ; Burzykowski, T; Poisson, L; Weinstein, JN; Kaminska, B; Huelsken, J; Omberg, L; Gevaert, O; Colaprico, A; Czerwins (2018). Machine Learning Identifies Stemness Features Associated with Oncogenic Dedifferentiation. Cell, 173(2), 338-+. DOI: 10.1016/j.cell.2018.03.034https://doi.org/10.1016/j.cell.2018.03.034
Selection in the Introgressed Regions of the Chimpanzee Genome2018-04-01Nye, J; Laayouni, H; Kuhlwilm, M; Mondal, M; Marques-Bonet, T; Bertranpetit, J (2018). Selection in the Introgressed Regions of the Chimpanzee Genome. Genome Biology And Evolution, 10(4), 1132-1138. DOI: 10.1093/gbe/evy077https://doi.org/10.1093/gbe/evy077
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation2018-04-01Vivanti, A; Ozanne, A; Grondin, C; Saliou, G; Quevarec, L; Maurey, H; Aubourg, P; Benachi, A; Gut, M; Gut, I; Martinovic, J; Sénat, MV; Tawk, M; Melki (2018). Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. Brain, 141(4), 979-988. DOI: 10.1093/brain/awy020https://doi.org/10.1093/brain/awy020
Alpha-1 antitrypsin deficiency: From the lung to the heart?2018-03-01Curjuric, I; Imboden, M; Bettschart, R; Caviezel, S; Dratva, J; Pons, M; Rothe, T; Schmidt-Trucksäss, A; Stolz, D; Thun, GA; von Eckardstein, A; Krone (2018). Alpha-1 antitrypsin deficiency: From the lung to the heart?. Atherosclerosis, 270(), 166-172. DOI: 10.1016/j.atherosclerosis.2018.01.042https://doi.org/10.1016/j.atherosclerosis.2018.01.042
The impact of endogenous content, replicates and pooling on genome capture from faecal samples2018-03-01Hernandez-Rodriguez, J; Arandjelovic, M; Lester, J; de Filippo, C; Weihmann, A; Meyer, M; Angedakin, S; Casals, F; Navarro, A; Vigilant, L; Kühl, HS; (2018). The impact of endogenous content, replicates and pooling on genome capture from faecal samples. Molecular Ecology Resources, 18(2), 319-333. DOI: 10.1111/1755-0998.12728https://doi.org/10.1111/1755-0998.12728
Transcription factors orchestrate dynamic interplay between genome topology and gene regulation during cell reprogramming2018-02-01Stadhouders, R; Vidal, E; Serra, F; Di Stefano, B; Le Dily, F; Quilez, J; Gomez, A; Collombet, S; Berenguer, C; Cuartero, Y; Hecht, J; Filion, GJ; Bea (2018). Transcription factors orchestrate dynamic interplay between genome topology and gene regulation during cell reprogramming. Nature Genetics, 50(2), 238-+. DOI: 10.1038/s41588-017-0030-7https://doi.org/10.1038/s41588-017-0030-7