TitleDateReferenceDOI
Repression of endogenous retroviruses prevents antiviral immune response and is required for mammary gland development2021-10-07Avgustinova, A; Laudanna, C; Pascual-García, M; Rovira, Q; Djurec, M; Castellanos, A; Urdiroz-Urricelqui, U; Marchese, D; Prats, N; Van Keymeulen, A; (2021). Repression of endogenous retroviruses prevents antiviral immune response and is required for mammary gland development. Cell Stem Cell, 28(10), 1790-+. DOI: 10.1016/j.stem.2021.04.030https://doi.org/10.1016/j.stem.2021.04.030
Major Reorganization of Chromosome Conformation During Muscle Development in Pig2021-10-05Marti-Marimon, M; Vialaneix, N; Lahbib-Mansais, Y; Zytnicki, M; Camut, S; Robelin, D; Yerle-Bouissou, M; Foissac, S (2021). Major Reorganization of Chromosome Conformation During Muscle Development in Pig. Frontiers In Genetics, 12(), 748239-. DOI: 10.3389/fgene.2021.748239https://doi.org/10.3389/fgene.2021.748239
A single-cell tumor immune atlas for precision oncology2021-10-01Nieto, P; Elosua-Bayes, M; Trincado, JL; Marchese, D; Massoni-Badosa, R; Salvany, M; Henriques, A; Nieto, J; Aguilar-Fernández, S; Mereu, E; Moutinho, (2021). A single-cell tumor immune atlas for precision oncology. Genome Research, 31(10), 1913-1926. DOI: 10.1101/gr.273300.120https://doi.org/10.1101/gr.273300.120
The early-life exposome and epigenetic age acceleration in children2021-10-01de Prado-Bert, P; Ruiz-Arenas, C; Vives-Usano, M; Andrusaityte, S; Cadiou, S; Carracedo, A; Casas, M; Chatzi, L; Dadvand, P; González, JR; Grazulevici (2021). The early-life exposome and epigenetic age acceleration in children. Environment International, 155(), 106683-. DOI: 10.1016/j.envint.2021.106683https://doi.org/10.1016/j.envint.2021.106683
Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data2021-10-01Maceda, I; Alvarez, MM; Athanasiadis, G; Tonda, R; Camps, J; Beltran, S; Camps, A; Fàbrega, J; Felisart, J; Grané, J; Remón, JL; Serra, J; Moral, P; L (2021). Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data. European Journal Of Human Genetics, 29(10), 1557-1565. DOI: 10.1038/s41431-021-00875-0https://doi.org/10.1038/s41431-021-00875-0
Molecular pathophysiology of human MICU1 deficiency2021-10-01Kohlschmidt, N; Elbracht, M; Czech, A; Husler, M; Phan, V; Tpf, A; Huang, KT; Bartok, A; Eggermann, K; Zippel, S; Eggermann, T; Freier, E; Gross, C; L (2021). Molecular pathophysiology of human MICU1 deficiency. Neuropathology And Applied Neurobiology, 47(6), 840-855. DOI: 10.1111/nan.12694https://doi.org/10.1111/nan.12694
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study2021-10-01Furlano, M; Martinez, V; Pybus, M; Arce, Y; Crespi, J; Venegas, MD; Bullich, G; Domingo, A; Ayasreh, N; Benito, S; Lorente, L; Ruiz, P; Gonzalez, VL; (2021). Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study. American Journal Of Kidney Diseases, 78(4), 560-U82. DOI: 10.1053/j.ajkd.2021.02.326https://doi.org/10.1053/j.ajkd.2021.02.326
Salmonella enterica from a soldier from the 1652 siege of Barcelona (Spain) supports historical transatlantic epidemic contacts2021-09-24De-Dios, T; Carrion, P; Olalde, I; Nadal, LL; Lizano, E; Pamies, D; Marques-Bonet, T; Balloux, F; van Dorp, L; Lalueza-Fox, C (2021). Salmonella enterica from a soldier from the 1652 siege of Barcelona (Spain) supports historical transatlantic epidemic contacts. Iscience, 24(9), 103021-. DOI: 10.1016/j.isci.2021.103021https://doi.org/10.1016/j.isci.2021.103021
Ancient and modern genomes unravel the evolutionary history of the rhinoceros family2021-09-16Liu, SL; Westbury, MV; Dussex, N; Mitchell, KJ; Sinding, MHS; Heintzman, PD; Duchêne, DA; Kapp, JD; von Seth, J; Heiniger, H; Sánchez-Barreiro, F; Mar (2021). Ancient and modern genomes unravel the evolutionary history of the rhinoceros family. Cell, 184(19), 4874-+. DOI: 10.1016/j.cell.2021.07.032https://doi.org/10.1016/j.cell.2021.07.032
Differential contribution to gene expression prediction of histone modifications at enhancers or promoters2021-09-01González-Ramírez, M; Ballaré, C; Mugianesi, F; Beringer, M; Santanach, A; Blanco, E; Di Croce, L (2021). Differential contribution to gene expression prediction of histone modifications at enhancers or promoters. Plos Computational Biology, 17(9), e1009368-. DOI: 10.1371/journal.pcbi.1009368https://doi.org/10.1371/journal.pcbi.1009368
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021-09-01Matalonga, L; Hernandez-Ferrer, C; Piscia, D; Schüle, R; Synofzik, M; Töpf, A; Vissers, LELM; de Voer, R; Tonda, R; Laurie, S; Fernandez-Callejo, M; P (2021). Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. European Journal Of Human Genetics, 29(9), 1337-1347. DOI: 10.1038/s41431-021-00852-7https://doi.org/10.1038/s41431-021-00852-7
DeepCOMBI: explainable artificial intelligence for the analysis and discovery in genome-wide association studies2021-09-01Mieth, B; Rozier, A; Rodriguez, JA; Höhne, MMC; Görnitz, N; Müller, KR (2021). DeepCOMBI: explainable artificial intelligence for the analysis and discovery in genome-wide association studies. Nar Genom Bioinform, 3(3), lqab065-. DOI: 10.1093/nargab/lqab065https://doi.org/10.1093/nargab/lqab065
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report2021-09-01te Paske, IBAW; Garcia-Pelaez, J; Sommer, AK; Matalonga, L; Starzynska, T; Jakubowska, A; Valle, L; Capella, G; Aretz, S; Holinski-Feder, E; Steinke-L (2021). A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report. European Journal Of Human Genetics, 29(9), 1354-1358. DOI: 10.1038/s41431-021-00853-6https://doi.org/10.1038/s41431-021-00853-6
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)2021-09-01Topf, A; Pyle, A; Griffin, H; Matalonga, L; Schon, K; Cohen, E; Sickmann, A; Schara-Schmidt, U; Hentschel, A; Chinnery, PF; Kolbel, H; Roos, A; Horvat (2021). Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). European Journal Of Human Genetics, 29(9), 1348-1353. DOI: 10.1038/s41431-021-00851-8https://doi.org/10.1038/s41431-021-00851-8
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis2021-09-01de Boer, E; Ockeloen, CW; Matalonga, L; Horvath, R; Rodenburg, RJ; Coenen, MJH; Janssen, M; Henssen, D; Gilissen, C; Steyaert, W; Paramonov, I; Trimou (2021). A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. European Journal Of Human Genetics, 29(9), 1359-1368. DOI: 10.1038/s41431-021-00900-2https://doi.org/10.1038/s41431-021-00900-2
Mitogenomic analysis of extant condor species provides insight into the molecular evolution of vultures2021-08-24De Panis, D; Lambertucci, SA; Wiemeyer, G; Dopazo, H; Almeida, FC; Mazzoni, CJ; Gut, M; Gut, I; Padró, J (2021). Mitogenomic analysis of extant condor species provides insight into the molecular evolution of vultures. Scientific Reports, 11(1), 17109-. DOI: 10.1038/s41598-021-96080-6https://doi.org/10.1038/s41598-021-96080-6
essHi-C: essential component analysis of Hi-C matrices2021-08-01Franzini, S; Di Stefano, M; Micheletti, C (2021). essHi-C: essential component analysis of Hi-C matrices. Bioinformatics, 37(15), 2088-2094. DOI: 10.1093/bioinformatics/btab062https://doi.org/10.1093/bioinformatics/btab062
Occurrence of the p019 gene in the blaKPC-harbouring plasmids: adverse clinical impact for direct tracking of KPC-producing Klebsiella pneumoniae by MALDI-TOF MS2021-08-01Gato, E; Constanso, IP; Rodiño-Janeiro, BK; Guijarro-Sánchez, P; Alioto, T; Arroyo, MJ; Méndez, G; Mancera, L; Gut, M; Gut, I; Alvarez-Tejado, M; Bou, (2021). Occurrence of the p019 gene in the blaKPC-harbouring plasmids: adverse clinical impact for direct tracking of KPC-producing Klebsiella pneumoniae by MALDI-TOF MS. Journal Of Clinical Microbiology, 59(8), e00238-21-. DOI: 10.1128/JCM.00238-21https://doi.org/10.1128/JCM.00238-21
Genotyping-by-sequencing resolves relationships in Polygonaceae tribe Eriogoneae2021-08-01Pearman, PB; Alioto, TS; Trotta, JRP; Columbus, JT (2021). Genotyping-by-sequencing resolves relationships in Polygonaceae tribe Eriogoneae. Taxon, 70(4), 826-841. DOI: 10.1002/tax.12535https://doi.org/10.1002/tax.12535
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-192021-08-01Asano, T; Boisson, B; Onodi, F; Matuozzo, D; Moncada-Velez, M; Renkilaraj, MRLM; Zhang, P; Meertens, L; Bolze, A; Materna, M; Korniotis, S; Gervais, A (2021). X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. Science Immunology, 6(62), eabl4348-. DOI: 10.1126/sciimmunol.abl4348https://doi.org/10.1126/sciimmunol.abl4348