TitleDateReferenceDOI
Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report2022-10-13Oldoni, E; Saunders, G; Bietrix, F; Bermejo, MLG; Niehues, A; 't Hoen, PAC; Nordlund, J; Hajduch, M; Scherer, A; Kivinen, K; Pitkanen, E; Makela, TP; (2022). Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report. Frontiers In Molecular Biosciences, 9(), 974799-. DOI: 10.3389/fmolb.2022.974799https://doi.org/10.3389/fmolb.2022.974799
MiOS, an integrated imaging and computational strategy to model gene folding with nucleosome resolution2022-10-11Neguembor, MV; Arcon, JP; Buitrago, D; Lema, R; Walther, J; Garate, X; Martin, L; Romero, P; Abed, JA; Gut, M; Blanc, J; Lakadamyali, M; Wu, CT; Heath (2022). MiOS, an integrated imaging and computational strategy to model gene folding with nucleosome resolution. Nature Structural & Molecular Biology, 29(10), 1011-+. DOI: 10.1038/s41594-022-00839-yhttps://doi.org/10.1038/s41594-022-00839-y
A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome2022-10-06Keraite, I; Becker, P; Canevazzi, D; Frias-Lopez, C; Dabad, M; Tonda-Hernandez, R; Paramonov, I; Ingham, MJ; Brun-Heath, I; Leno, J; Abuli, A; Garcia- (2022). A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome. Nature Communications, 13(1), 5902-. DOI: 10.1038/s41467-022-33530-3https://doi.org/10.1038/s41467-022-33530-3
Antimicrobial Peptides Can Generate Tolerance by Lag and Interfere with Antimicrobial Therapy2022-10-01Sandin, D; Valle, J; Morata, J; Andreu, D; Torrent, M (2022). Antimicrobial Peptides Can Generate Tolerance by Lag and Interfere with Antimicrobial Therapy. Pharmaceutics, 14(10), 2169-. DOI: 10.3390/pharmaceutics14102169https://doi.org/10.3390/pharmaceutics14102169
The HASTER lncRNA promoter is a cis-acting transcriptional stabilizer of HNF1A2022-10-01Beucher, A; Miguel-Escalada, I; Balboa, D; De Vas, MG; Maestro, MA; Garcia-Hurtado, J; Bernal, A; Gonzalez-Franco, R; Vargiu, P; Heyn, H; Ravassard, P (2022). The HASTER lncRNA promoter is a cis-acting transcriptional stabilizer of HNF1A. Nature Cell Biology, 24(10), 1528-+. DOI: 10.1038/s41556-022-00996-8https://doi.org/10.1038/s41556-022-00996-8
Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature2022-10-01Karimzadeh, P; Najmabadi, H; Lochmuller, H; Babaee, M; Dehdahsi, S; Miryounesi, M; Amirsalari, S; Rayegani, SM; Tonekaboni, SH (2022). Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature. Neuromuscular Disorders, 32(10), 806-810. DOI: 10.1016/j.nmd.2022.08.002https://doi.org/10.1016/j.nmd.2022.08.002
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia2022-10-01Reid, KM; Spaull, R; Salian, S; Barwick, K; Meyer, E; Zhen, J; Hirata, H; Sheipouri, D; Benkerroum, H; Gorman, KM; Papandreou, A; Simpson, MA; Hirano, (2022). MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. Movement Disorders, 37(10), 2139-2146. DOI: 10.1002/mds.29147https://doi.org/10.1002/mds.29147
RNA-sequencing reveals genes linked with oocyte developmental potential in bovine cumulus cells2022-09-01Martinez-Moro, A; Gonzalez-Brusi, L; Lamas-Toranzo, I; O'Callaghan, E; Esteve-Codina, A; Lonergan, P; Bermejo-Alvarez, P (2022). RNA-sequencing reveals genes linked with oocyte developmental potential in bovine cumulus cells. Molecular Reproduction And Development, 89(9), 399-412. DOI: 10.1002/mrd.23631https://doi.org/10.1002/mrd.23631
Mex3a marks drug-tolerant persister colorectal cancer cells that mediate relapse after chemotherapy2022-09-01Alvarez-Varela, A; Novellasdemunt, L; Barriga, FM; Hernando-Momblona, X; Canellas-Socias, A; Cano-Crespo, S; Sevillano, M; Cortina, C; Stork, D; Morra (2022). Mex3a marks drug-tolerant persister colorectal cancer cells that mediate relapse after chemotherapy. Nature Cancer, 3(9), 1052-+. DOI: 10.1038/s43018-022-00402-0https://doi.org/10.1038/s43018-022-00402-0
Recommendations for whole genome sequencing in diagnostics for rare diseases2022-09-01Souche, E; Beltran, S; Brosens, E; Belmont, JW; Fossum, M; Riess, O; Gilissen, C; Ardeshirdavani, A; Houge, G; van Gijn, M; Clayton-Smith, J; Synofzik (2022). Recommendations for whole genome sequencing in diagnostics for rare diseases. European Journal Of Human Genetics, 30(9), 1017-1021. DOI: 10.1038/s41431-022-01113-xhttps://doi.org/10.1038/s41431-022-01113-x
In silico validation of RNA-Seq results can identify gene fusions with oncogenic potential in glioblastoma2022-08-24Hernandez, A; Munoz-Marmol, AM; Esteve-Codina, A; Alameda, F; Carrato, C; Pineda, E; Arpi-Llucia, O; Martinez-Garcia, M; Mallo, M; Gut, M; del Barco, (2022). In silico validation of RNA-Seq results can identify gene fusions with oncogenic potential in glioblastoma. Scientific Reports, 12(1), 14439-. DOI: 10.1038/s41598-022-18608-8https://doi.org/10.1038/s41598-022-18608-8
Look-alike humans identified by facial recognition algorithms show genetic similarities2022-08-23Joshi, RS; Rigau, M; Garcia-Prieto, CA; de Moura, MC; Pineyro, D; Moran, S; Davalos, V; Carrion, P; Ferrando-Bernal, M; Olalde, I; Lalueza-Fox, C; Nav (2022). Look-alike humans identified by facial recognition algorithms show genetic similarities. Cell Reports, 40(8), 111257-. DOI: 10.1016/j.celrep.2022.111257https://doi.org/10.1016/j.celrep.2022.111257
Developmental RNA-Seq transcriptomics of haploid germ cells and spermatozoa uncovers novel pathways associated with teleost spermiogenesis2022-08-19Castro-Arnau, J; Chauvigne, F; Gomez-Garrido, J; Esteve-Codina, A; Dabad, M; Alioto, T; Finn, RN; Cerda, J (2022). Developmental RNA-Seq transcriptomics of haploid germ cells and spermatozoa uncovers novel pathways associated with teleost spermiogenesis. Scientific Reports, 12(1), 14162-. DOI: 10.1038/s41598-022-18422-2https://doi.org/10.1038/s41598-022-18422-2
Detection of early seeding of Richter transformation in chronic lymphocytic leukemia2022-08-11Nadeu, F; Royo, R; Massoni-Badosa, R; Garcia-Torre, B; Duran-Ferrer, M; Dawson, KJ; Kulis, M; Diaz-Navarro, A; Villamor, N; Melero, JL; Chapaprieta, V (2022). Detection of early seeding of Richter transformation in chronic lymphocytic leukemia. Nature Medicine, 28(8), 1662-+. DOI: 10.1038/s41591-022-01927-8https://doi.org/10.1038/s41591-022-01927-8
Recovering the genomes hidden in museum wet collections2022-08-01Ruiz-Gartzia, I; Lizano, E; Marques-Bonet, T; Kelley, JL (2022). Recovering the genomes hidden in museum wet collections. Molecular Ecology Resources, 22(6), 2127-2129. DOI: 10.1111/1755-0998.13631https://doi.org/10.1111/1755-0998.13631
Polycomb complexes in MLL-AF9-related leukemias2022-08-01Sparavier, A; Di Croce, L (2022). Polycomb complexes in MLL-AF9-related leukemias. Current Opinion In Genetics & Development, 75(), 101920-. DOI: 10.1016/j.gde.2022.101920https://doi.org/10.1016/j.gde.2022.101920
Clonal heterogeneity and rates of specific chromosome gains are risk predictors in childhood high-hyperdiploid B-cell acute lymphoblastic leukemia2022-08-01Ramos-Muntada, M; Trincado, JL; Blanco, J; Bueno, C; Rodriguez-Cortez, VC; Bataller, A; Lopez-Millan, B; Schwab, C; Ortega, M; Velasco, P; Blanco, ML; (2022). Clonal heterogeneity and rates of specific chromosome gains are risk predictors in childhood high-hyperdiploid B-cell acute lymphoblastic leukemia. Molecular Oncology, 16(16), 2899-2919. DOI: 10.1002/1878-0261.13276https://doi.org/10.1002/1878-0261.13276
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy2022-07-29van der Knoop, MM; Maroofian, R; Fukata, Y; van Ierland, Y; Karimiani, EG; Lehesjoki, AE; Muona, M; Paetau, A; Miyazaki, Y; Hirano, Y; Selim, L; de Fr (2022). Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. Brain, 145(7), 2301-2312. DOI: 10.1093/brain/awac116https://doi.org/10.1093/brain/awac116
Cohesin couples transcriptional bursting probabilities of inducible enhancers and promoters2022-07-27Robles-Rebollo, I; Cuartero, S; Canellas-Socias, A; Wells, S; Karimi, MM; Mereu, E; Chivu, AG; Heyn, H; Whilding, C; Dormann, D; Marguerat, S; Rioja, (2022). Cohesin couples transcriptional bursting probabilities of inducible enhancers and promoters. Nature Communications, 13(1), 4342-. DOI: 10.1038/s41467-022-31192-9https://doi.org/10.1038/s41467-022-31192-9
Reference genomes for conservation.2022-07-22Paez S; Kraus RHS; Shapiro B; Gilbert MTP; Jarvis ED; ; Al-Ajli FO; Ceballos G; Crawford AJ; Fedrigo O; Johnson RN; Johnson WE; Marques-Bonet T; Mori (2022). Reference genomes for conservation.. Science, 377(6604), 364-366. DOI: 10.1126/science.abm8127https://doi.org/10.1126/science.abm8127