TitleDateReferenceDOI
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.2024-05-27Roca-Ayats N; Maceda I; Bruque CD; Martínez-Gil N; Garcia-Giralt N; Cozar M; Mellibovsky L; Van Hul W; Lao O; Grinberg D; Balcells S (2024). Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.. Human Genomics, 18(1), 53-. DOI: 10.1186/s40246-024-00616-6https://doi.org/10.1186/s40246-024-00616-6
Caenorhabditis elegans endorse bacterial nanocellulose fibers as functional dietary Fiber reducing lipid markers2024-05-01Muñoz-Juan, A; Assié, A; Esteve-Codina, A; Gut, M; Benseny-Cases, N; Samuel, BS; Dalfó, E; Laromaine, A (2024). Caenorhabditis elegans endorse bacterial nanocellulose fibers as functional dietary Fiber reducing lipid markers. Carbohydrate Polymers, 331(), 121815-. DOI: 10.1016/j.carbpol.2024.121815https://doi.org/10.1016/j.carbpol.2024.121815
Elucidating the Onset of Cross-Protective Immunity after Intranasal Vaccination with the Attenuated African Swine Fever Vaccine Candidate BA71ΔCD22024-05-01Marín-Moraleda, D; Muñoz-Basagoiti, J; Tort-Miró, A; Navas, MJ; Muñoz, M; Vidal, E; Cobos, A; Martín-Mur, B; Meas, S; Motuzova, V; Chang, CY; Gut, M; (2024). Elucidating the Onset of Cross-Protective Immunity after Intranasal Vaccination with the Attenuated African Swine Fever Vaccine Candidate BA71ΔCD2. Vaccines, 12(5), 517-. DOI: 10.3390/vaccines12050517https://doi.org/10.3390/vaccines12050517
Population genetics and phylogeographic history of the insular lizard Podarcis lilfordi (Gunther, 1874) from the Balearic Islands based on genome-wide polymorphic data2024-05-01Otalora, K; Riera, JL; Tavecchia, G; Rotger, A; Igual, JM; Trotta, JRP; Baldo, L (2024). Population genetics and phylogeographic history of the insular lizard Podarcis lilfordi (Gunther, 1874) from the Balearic Islands based on genome-wide polymorphic data. Ecology And Evolution, 14(5), e11407-. DOI: 10.1002/ece3.11407https://doi.org/10.1002/ece3.11407
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative2024-04-01Beijer, D; Fogel, BL; Beltran, S; Danzi, MC; Németh, AH; Züchner, S; Synofzik, M (2024). Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative. Cerebellum, 23(2), 391-400. DOI: 10.1007/s12311-023-01537-1https://doi.org/10.1007/s12311-023-01537-1
FixNCut: single-cell genomics through reversible tissue fixation and dissociation2024-03-29Jiménez-Gracia, L; Marchese, D; Nieto, JC; Caratu, G; Melón-Ardanaz, E; Gudiño, V; Roth, S; Wise, K; Ryan, NK; Jensen, KB; Hernando-Momblona, X; Berna (2024). FixNCut: single-cell genomics through reversible tissue fixation and dissociation. Genome Biology, 25(1), 81-. DOI: 10.1186/s13059-024-03219-5https://doi.org/10.1186/s13059-024-03219-5
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies2024-03-28Ferreira T; Polavarapu K; Olimpio C; Paramonov I; Lochmüller H; Horvath R (2024). Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. Journal Of Neurology, 271(6), 3546-. DOI: 10.1007/s00415-024-12319-yhttps://doi.org/10.1007/s00415-024-12319-y
Multi-organ single-cell transcriptomics of immune cells uncovered organ-specific gene expression and functions2024-03-27Tsagiopoulou, M; Rashmi, S; Aguilar-Fernandez, S; Nieto, J; Gut, IG (2024). Multi-organ single-cell transcriptomics of immune cells uncovered organ-specific gene expression and functions. Scientific Data, 11(1), 316-. DOI: 10.1038/s41597-024-03152-zhttps://doi.org/10.1038/s41597-024-03152-z
scDrugPrio: a framework for the analysis of single-cell transcriptomics to address multiple problems in precision medicine in immune-mediated inflammatory diseases2024-03-20Schäfer, S; Smelik, M; Sysoev, O; Zhao, YL; Eklund, D; Lilja, S; Gustafsson, M; Heyn, H; Julia, A; Kovács, IA; Loscalzo, J; Marsal, S; Zhang, H; Li, X (2024). scDrugPrio: a framework for the analysis of single-cell transcriptomics to address multiple problems in precision medicine in immune-mediated inflammatory diseases. Genome Medicine, 16(1), 42-. DOI: 10.1186/s13073-024-01314-7https://doi.org/10.1186/s13073-024-01314-7
Genomics of the expanding pine pathogen Lecanosticta acicola reveals patterns of ongoing genetic admixture2024-03-19Marcet-Houben, M; Cruz, F; Gómez-Garrido, J; Alioto, TS; Nunez-Rodriguez, JC; Mesanza, N; Gut, M; Iturritxa, E; Gabaldon, T (2024). Genomics of the expanding pine pathogen Lecanosticta acicola reveals patterns of ongoing genetic admixture. Msystems, 9(3), e0092823-e0092823. DOI: 10.1128/msystems.00928-23https://doi.org/10.1128/msystems.00928-23
Endothelial TDP-43 controls sprouting angiogenesis and vascular barrier integrity, and its deletion triggers neuroinflammation2024-03-08Arribas, V; Onetti, Y; Ramiro-Pareta, M; Villacampa, P; Beck, H; Alberola, M; Esteve-Codina, A; Merkel, A; Sperandio, M; Martínez-Estrada, OM; Schmid, (2024). Endothelial TDP-43 controls sprouting angiogenesis and vascular barrier integrity, and its deletion triggers neuroinflammation. Jci Insight, 9(5), e177819-. DOI: 10.1172/jci.insight.177819https://doi.org/10.1172/jci.insight.177819
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series2024-03-01Pugliese, A; Della Marina, A; Estephan, ED; Zanoteli, E; Roos, A; Schara-Schmidt, U; Hentschel, A; Azuma, Y; Töpf, A; Thompson, R; Polavarapu, K; Loch (2024). Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series. Journal Of Neurology, 271(3), 1331-1341. DOI: 10.1007/s00415-023-12070-whttps://doi.org/10.1007/s00415-023-12070-w
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes2024-02-28Nunez-Carpintero, I; Rigau, M; Bosio, M; O'Connor, E; Spendiff, S; Azuma, Y; Topf, A; Thompson, R; 't Hoen, PAC; Chamova, T; Tournev, I; Guergueltchev (2024). Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nature Communications, 15(1), 1227-. DOI: 10.1038/s41467-024-45099-0https://doi.org/10.1038/s41467-024-45099-0
Converging and evolving immuno-genomic routes toward immune escape in breast cancer2024-02-21Blanco-Heredia, J; Souza, CA; Trincado, JL; Gonzalez-Cao, M; Gonçalves-Ribeiro, S; Gil, SR; Pravdyvets, D; Cedeño, S; Callari, M; Marra, A; Gazzo, AM; (2024). Converging and evolving immuno-genomic routes toward immune escape in breast cancer. Nature Communications, 15(1), 1302-. DOI: 10.1038/s41467-024-45292-1https://doi.org/10.1038/s41467-024-45292-1
An atlas of cells in the human tonsil2024-02-13Massoni-Badosa, R; Aguilar-Fernández, S; Nieto, JC; Soler-Vila, P; Elosua-Bayes, M; Marchese, D; Kulis, M; Vilas-Zornoza, A; Bühler, MM; Rashmi, S; Al (2024). An atlas of cells in the human tonsil. Immunity, 57(2), 379-399.e18. DOI: 10.1016/j.immuni.2024.01.006https://doi.org/10.1016/j.immuni.2024.01.006
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant2024-02-01Baskar, D; Polavarapu, K; Preethish-Kumar, V; Vengalil, S; Nashi, S; Toepf, A; Thomas, A; Sanka, SB; Menon, D; Srivastava, K; Arunachal, G; Nandeesh, (2024). Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant. Neurol Genet, 10(1), e200122-. DOI: 10.1212/NXG.0000000000200122https://doi.org/10.1212/NXG.0000000000200122
CSDE1 Intracellular Distribution as a Biomarker of Melanoma Prognosis2024-02-01Indacochea, A; Guitart, T; Boada, A; Peg, V; Quer, A; Laayouni, H; Condal, L; Espinosa, P; Manzano, JL; Gebauer, F (2024). CSDE1 Intracellular Distribution as a Biomarker of Melanoma Prognosis. International Journal Of Molecular Sciences, 25(4), 2319-. DOI: 10.3390/ijms25042319https://doi.org/10.3390/ijms25042319
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples2024-02-01Wijngaard, R; Demidov, G; O'Gorman, L; Corominas-Galbany, J; Yaldiz, B; Steyaert, W; de Boer, E; Vissers, LELM; Kamsteeg, EJ; Pfundt, R; Swinkels, H; (2024). Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples. European Journal Of Human Genetics, 32(2), 200-208. DOI: 10.1038/s41431-023-01478-7https://doi.org/10.1038/s41431-023-01478-7
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report2024-02-01Lagorce, D; Lebreton, E; Matalonga, L; Hongnat, O; Chahdil, M; Piscia, D; Paramonov, I; Ellwanger, K; Köhler, S; Robinson, P; Graessner, H; Beltran, S (2024). Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report. European Journal Of Human Genetics, 32(2), 182-189. DOI: 10.1038/s41431-023-01486-7https://doi.org/10.1038/s41431-023-01486-7
The C250T Mutation of TERTp Might Grant a Better Prognosis to Glioblastoma by Exerting Less Biological Effect on Telomeres and Chromosomes Than the C228T Mutation2024-02-01Gorria, T; Crous, C; Pineda, E; Hernandez, A; Domenech, M; Sanz, C; Jares, P; Muñoz-Mármol, AM; Arpí-Llucia, O; Melendez, B; Gut, M; Esteve, A; Esteve (2024). The C250T Mutation of TERTp Might Grant a Better Prognosis to Glioblastoma by Exerting Less Biological Effect on Telomeres and Chromosomes Than the C228T Mutation. Cancers, 16(4), 735-. DOI: 10.3390/cancers16040735https://doi.org/10.3390/cancers16040735