TitleDateReferenceDOI
Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses2022-04-01Rodriguez-Ubreva, J; Arutyunyan, A; Bonder, MJ; Del Pino-Molina, L; Clark, SJ; de la Calle-Fabregat, C; Garcia-Alonso, L; Handfield, LF; Ciudad, L; An (2022). Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses. Nature Communications, 13(1), 1779-. DOI: 10.1038/s41467-022-29450-xhttps://doi.org/10.1038/s41467-022-29450-x
In vivo temporal resolution of acute promyelocytic leukemia progression reveals a role of Klf4 in suppressing early leukemic transformation2022-04-01Mas, G; Santoro, F; Blanco, E; Figueroa, GPG; Le Dily, F; Frigè, G; Vidal, E; Mugianesi, F; Ballaré, C; Gutierrez, A; Sparavier, A; Marti-Renom, MA; M (2022). In vivo temporal resolution of acute promyelocytic leukemia progression reveals a role of Klf4 in suppressing early leukemic transformation. Genes & Development, 36(7-8), 451-467. DOI: 10.1101/gad.349115.121https://doi.org/10.1101/gad.349115.121
Epigenetic landscape in the kick-and-kill therapeutic vaccine BCN02 clinical trial is associated with antiretroviral treatment interruption (ATI) outcome2022-04-01Oriol-Tordera, B; Esteve-Codina, A; Berdasco, M; Rosás-Umbert, M; Gonçalves, E; Duran-Castells, C; Català-Moll, F; Llano, A; Cedeño, S; Puertas, MC; T (2022). Epigenetic landscape in the kick-and-kill therapeutic vaccine BCN02 clinical trial is associated with antiretroviral treatment interruption (ATI) outcome. Ebiomedicine, 78(), 103956-. DOI: 10.1016/j.ebiom.2022.103956https://doi.org/10.1016/j.ebiom.2022.103956
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players2022-03-25Domingo-Gallego, A; Pybus, M; Bullich, G; Furlano, M; Ejarque-Vila, L; Lorente-Grandoso, L; Ruiz, P; Fraga, G; Gonzalez, ML; Pinero-Fernandez, JA; Rod (2022). Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. Nephrology Dialysis Transplantation, 37(4), 687-696. DOI: 10.1093/ndt/gfab019https://doi.org/10.1093/ndt/gfab019
Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood2022-03-18Ruiz-Arenas, C; Hernandez-Ferrer, C; Vives-Usano, M; Mari, S; Quintela, I; Mason, D; Cadiou, S; Casas, M; Andrusaityte, S; Gutzkow, KB; Vafeiadi, M; W (2022). Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood. Elife, 11(), e65310-. DOI: 10.7554/eLife.65310https://doi.org/10.7554/eLife.65310
Insights from the rescue and breeding management of Cuvier's gazelle (Gazella cuvieri) through whole-genome sequencing2022-03-01Alvarez-Estape, M; Fontsere, C; Serres-Armero, A; Kuderna, LFK; Dobrynin, P; Guidara, H; Pukazhenthi, BS; Koepfli, KP; Marques-Bonet, T; Moreno, E; Li (2022). Insights from the rescue and breeding management of Cuvier's gazelle (Gazella cuvieri) through whole-genome sequencing. Evolutionary Applications, 15(3), 351-364. DOI: 10.1111/eva.13336https://doi.org/10.1111/eva.13336
New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)2022-03-01Corral-Juan, M; Casquero, P; Giraldo-Restrepo, N; Laurie, S; Martinez-Pineiro, A; Mateo-Montero, RC; Ispierto, L; Vilas, D; Tolosa, E; Volpini, V; Alv (2022). New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49). Brain Commun, 4(2), fcac030-. DOI: 10.1093/braincomms/fcac030https://doi.org/10.1093/braincomms/fcac030
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis2022-03-01Estephan, EP; Zambon, AA; Thompson, R; Polavarapu, K; Jomaa, D; Töpf, A; Helito, PVP; Heise, CO; Moreno, CAM; Silva, AMS; Kouyoumdjian, JA; Morita, MD (2022). Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis. European Journal Of Neurology, 29(3), 833-842. DOI: 10.1111/ene.15173https://doi.org/10.1111/ene.15173
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization2022-03-01Schlüter, A; Rodríguez-Palmero, A; Verdura, E; Vélez-Santamaría, V; Ruiz, M; Fourcade, S; Planas-Serra, L; Martínez, JJ; Guilera, C; Girós, M; Artuch, (2022). Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization. Neurology, 98(9), E912-E923. DOI: 10.1212/WNL.0000000000013278https://doi.org/10.1212/WNL.0000000000013278
Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromas2022-02-15Mazuelas, H; Magallón-Lorenz, M; Fernández-Rodríguez, J; Uriarte-Arrazola, I; Richaud-Patin, Y; Terribas, E; Villanueva, A; Castellanos, E; Blanco, I; (2022). Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromas. Cell Reports, 38(7), 110385-. DOI: 10.1016/j.celrep.2022.110385https://doi.org/10.1016/j.celrep.2022.110385
DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data2022-02-07Bonet, J; Chen, MD; Dabad, M; Heath, S; Gonzalez-Perez, A; Lopez-Bigas, N; Lagergren, J (2022). DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data. Bioinformatics, 38(5), 1235-1243. DOI: 10.1093/bioinformatics/btab745https://doi.org/10.1093/bioinformatics/btab745
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects2022-01-31Arlt, A; Kohlschmidt, N; Hentschel, A; Bartels, E; Gross, C; Topf, A; Edem, P; Szabo, N; Sickmann, A; Meyer, N; Schara-Schmidt, U; Lau, J; Lochmuller, (2022). Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects. Orphanet Journal Of Rare Diseases, 17(1), 29-. DOI: 10.1186/s13023-021-02068-whttps://doi.org/10.1186/s13023-021-02068-w
InterTADs: integration of multi-omics data on topologically associated domains, application to chronic lymphocytic leukemia2022-01-14Tsagiopoulou, M; Pechlivanis, N; Maniou, MC; Psomopoulos, F (2022). InterTADs: integration of multi-omics data on topologically associated domains, application to chronic lymphocytic leukemia. Nar Genom Bioinform, 4(1), lqab121-. DOI: 10.1093/nargab/lqab121https://doi.org/10.1093/nargab/lqab121
Identification of chromatin loops from Hi-C interaction matrices by CTCF-CTCF topology classification2022-01-13Galan, S; Serra, F; Marti-Renom, MA (2022). Identification of chromatin loops from Hi-C interaction matrices by CTCF-CTCF topology classification. Nar Genom Bioinform, 4(1), lqac021-. DOI: 10.1093/nargab/lqac021https://doi.org/10.1093/nargab/lqac021
Analysis of the batch effect due to sequencing center in population statistics quantifying rare events in the 1000 genomes project2022-01-01Maceda, I; Lao, OS (2022). Analysis of the batch effect due to sequencing center in population statistics quantifying rare events in the 1000 genomes project. Genes, 13(1), 44-. DOI: 10.3390/genes13010044https://doi.org/10.3390/genes13010044
Spatial organization of chromosomes leads to heterogeneous chromatin motion and drives the liquid- or gel-like dynamical behavior of chromatin2022-01-01Salari, H; Di Stefano, M; Jost, D (2022). Spatial organization of chromosomes leads to heterogeneous chromatin motion and drives the liquid- or gel-like dynamical behavior of chromatin. Genome Research, 32(1), 28-43. DOI: 10.1101/gr.275827.121https://doi.org/10.1101/gr.275827.121
Emergence of 16S rRNA methyltransferases among carbapenemase-producing Enterobacterales in Spain studied by whole-genome sequencing2022-01-01Arca-Suárez, J; Rodiño-Janeiro, BK; Pérez, A; Guijarro-Sánchez, P; Vázquez-Ucha, JC; Cruz, F; Gómez-Garrido, J; Alioto, TS; Alvarez-Tejado, M; Gut, M; (2022). Emergence of 16S rRNA methyltransferases among carbapenemase-producing Enterobacterales in Spain studied by whole-genome sequencing. International Journal Of Antimicrobial Agents, 59(1), 106456-. DOI: 10.1016/j.ijantimicag.2021.106456https://doi.org/10.1016/j.ijantimicag.2021.106456
Structural basis of Nrd1-Nab3 heterodimerization2022-01-01Chaves-Arquero, B; Martínez-Lumbreras, S; Camero, S; Santiveri, CM; Mirassou, Y; Campos-Olivas, R; Jiménez, MA; Calvo, O; Pérez-Cañadillas, JM (2022). Structural basis of Nrd1-Nab3 heterodimerization. Life Sci Alliance, 5(4), e202101252-. DOI: 10.26508/lsa.202101252https://doi.org/10.26508/lsa.202101252
A high-quality, long-read genome assembly of the endangered ring-tailed lemur (Lemur catta)2022-01-01Palmada-Flores, M; Orkin, JD; Haase, B; Mountcastle, J; Bertelsen, MF; Fedrigo, O; Kuderna, LFK; Jarvis, ED; Marques-Bonet, T (2022). A high-quality, long-read genome assembly of the endangered ring-tailed lemur (Lemur catta). Gigascience, 11(), giac026-. DOI: 10.1093/gigascience/giac026https://doi.org/10.1093/gigascience/giac026
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents2022-01-01Gangfuss, A; Lochmüller, H; Töpf, A; O'Heir, E; Horvath, R; Kölbel, H; Schweiger, B; Schara-Schmidt, U; Roos, A (2022). A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. American Journal Of Medical Genetics Part a, 188(1), 283-291. DOI: 10.1002/ajmg.a.62494https://doi.org/10.1002/ajmg.a.62494