TitleDateAuthorsDOI
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
Autoantibodies neutralizing type I IFNs are present in ∼4% of uninfected individuals over 70 years old and account for ∼20% of COVID-19 deaths2021-08-01Bastard, P; Gervais, A; Le Voyer, T; Rosain, J; Philippot, Q; Manry, J; Michailidis, E; Hoffmann, HH; Eto, S; Garcia-Prat, M; Bizien, L; Parra-Martíne (2021). Autoantibodies neutralizing type I IFNs are present in ∼4% of uninfected individuals over 70 years old and account for ∼20% of COVID-19 deaths. Science Immunology, 6(62), eabl4340-. DOI: 10.1126/sciimmunol.abl4340https://doi.org/10.1126/sciimmunol.abl4340
Human tRNAs with inosine 34 are essential to efficiently translate eukarya-specific low-complexity proteins2021-07-09Torres, AG; Rodríguez-Escribà, M; Marcet-Houben, M; Vieira, HGS; Camacho, N; Catena, H; Recio, MM; Rafels-Ybern, A; Reina, O; Torres, FM; Pardo-Sagant (2021). Human tRNAs with inosine 34 are essential to efficiently translate eukarya-specific low-complexity proteins. Nucleic Acids Research, 49(12), 7011-7034. DOI: 10.1093/nar/gkab461https://doi.org/10.1093/nar/gkab461
CeLaVi: an interactive cell lineage visualization tool2021-07-02Salvador-Martinez, I; Grillo, M; Averof, M; Telford, MJ (2021). CeLaVi: an interactive cell lineage visualization tool. Nucleic Acids Research, 49(W1), W80-W85. DOI: 10.1093/nar/gkab325https://doi.org/10.1093/nar/gkab325
Mechnetor: a web server for exploring protein mechanism and the functional context of genetic variants2021-07-02Gonzalez-Sanchez, JC; Ibrahim, MFR; Leist, IC; Weise, KR; Russell, RB (2021). Mechnetor: a web server for exploring protein mechanism and the functional context of genetic variants. Nucleic Acids Research, 49(W1), W366-W374. DOI: 10.1093/nar/gkab399https://doi.org/10.1093/nar/gkab399
An improved MALDI-TOF MS data analysis pipeline for the identification of carbapenemase-producing Klebsiella pneumoniae2021-07-01Gato, E; Constanso, IP; Candela, A; Galán, F; Rodiño-Janeiro, BK; Arroyo, MJ; Méndez, G; Mancera, L; Alioto, T; Gut, M; Gut, I; Alvarez-Tejado, M; Rod (2021). An improved MALDI-TOF MS data analysis pipeline for the identification of carbapenemase-producing Klebsiella pneumoniae. Journal Of Clinical Microbiology, 59(7), e00800-21-. DOI: 10.1128/JCM.00800-21https://doi.org/10.1128/JCM.00800-21
Lung microbiome composition and bronchial epithelial gene expression in patients with COPD versus healthy individuals: a bacterial 16S rRNA gene sequencing and host transcriptomic analysis2021-07-01Ramsheh, MY; Haldar, K; Esteve-Codina, A; Purser, LF; Richardson, M; Müller-Quernheim, J; Greulich, T; Nowinski, A; Barta, I; Stendardo, M; Boschetto, (2021). Lung microbiome composition and bronchial epithelial gene expression in patients with COPD versus healthy individuals: a bacterial 16S rRNA gene sequencing and host transcriptomic analysis. The Lancet Microbe, 2(7), E300-E310. DOI: 10.1016/S2666-5247(21)00035-5https://doi.org/10.1016/S2666-5247(21)00035-5
Chromosome anchoring in Senegalese sole (Solea senegalensis) reveals sex-associated markers and genome rearrangements in flatfish2021-06-29Guerrero-Cózar, I; Gomez-Garrido, J; Berbel, C; Martinez-Blanch, JF; Alioto, T; Claros, MG; Gagnaire, PA; Manchado, M (2021). Chromosome anchoring in Senegalese sole (Solea senegalensis) reveals sex-associated markers and genome rearrangements in flatfish. Scientific Reports, 11(1), 13460-. DOI: 10.1038/s41598-021-92601-5https://doi.org/10.1038/s41598-021-92601-5
Assessment of the gene mosaicism burden in blood and its implications for immune disorders2021-06-21Solís-Moruno, M; Mensa-Vilaró, A; Batlle-Masó, L; Lobón, I; Bonet, N; Marquès-Bonet, T; Aróstegui, JI; Casals, F (2021). Assessment of the gene mosaicism burden in blood and its implications for immune disorders. Scientific Reports, 11(1), 12940-. DOI: 10.1038/s41598-021-92381-yhttps://doi.org/10.1038/s41598-021-92381-y
Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytes2021-06-18Esteve-Codina, A; Hofer, TP; Burggraf, D; Heiss-Neumann, MS; Gesierich, W; Boland, A; Olaso, R; Bihoreau, MT; Deleuze, JF; Moeller, W; Schmid, O; Arti (2021). Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytes. Scientific Reports, 11(1), 12848-. DOI: 10.1038/s41598-021-91742-xhttps://doi.org/10.1038/s41598-021-91742-x
HuConTest: Testing Human Contamination in Great Ape Samples2021-06-01Kuhlwilm, M; Fontsere, C; Han, SJ; Alvarez-Estape, M; Marques-Bonet, T (2021). HuConTest: Testing Human Contamination in Great Ape Samples. Genome Biology And Evolution, 13(6), evab117-. DOI: 10.1093/gbe/evab117https://doi.org/10.1093/gbe/evab117
Activity of imipenem/relebactam against a Spanish nationwide collection of carbapenemase-producing Enterobacterales2021-06-01Vázquez-Ucha, JC; Seoane-Estévez, A; Rodiño-Janeiro, BK; González-Bardanca, M; Conde-Pérez, K; Martínez-Guitián, M; Alvarez-Fraga, L; Arca-Suárez, J; (2021). Activity of imipenem/relebactam against a Spanish nationwide collection of carbapenemase-producing Enterobacterales. Journal Of Antimicrobial Chemotherapy, 76(6), 1498-1510. DOI: 10.1093/jac/dkab043https://doi.org/10.1093/jac/dkab043