TitleDateReferenceDOI
The cellular landscape of the endochondral bone during the transition to extrauterine life2024-02-01Rueda, AD; Salvador-Martínez, I; Sospedra-Arrufat, I; Alcaina-Caro, A; Fernández-Miñán, A; Burgos-Ruiz, AM; Cases, I; Mohedano, A; Tena, JJ; Heyn, H; (2024). The cellular landscape of the endochondral bone during the transition to extrauterine life. Immunology And Cell Biology, 102(2), 131-148. DOI: 10.1111/imcb.12718https://doi.org/10.1111/imcb.12718
Genomic insights into the Montseny brook newt (Calotriton arnoldi), a Critically Endangered glacial relict2024-01-19Talavera, A; Palmada-Flores, M; Burriel-Carranza, B; Valbuena-Ureña, E; Mochales-Riaño, G; Adams, DC; Tejero-Cicuéndez, H; Soler-Membrives, A; Amat, F (2024). Genomic insights into the Montseny brook newt (Calotriton arnoldi), a Critically Endangered glacial relict. Iscience, 27(1), 108665-. DOI: 10.1016/j.isci.2023.108665https://doi.org/10.1016/j.isci.2023.108665
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort2024-01-04Polavarapu, K; Sunitha, B; Töpf, A; Preethish-Kumar, V; Thompson, R; Vengalil, S; Nashi, S; Bardhan, M; Sanka, SB; Huddar, A; Unnikrishnan, G; Arunach (2024). Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort. Brain, 147(1), 281-296. DOI: 10.1093/brain/awad315https://doi.org/10.1093/brain/awad315
Characterization of the Common Genetic Variation in the Spanish Population of Navarre2024-01-01Maillo A; Huergo E; Apellániz-Ruiz M; Urrutia-Lafuente E; Miranda M; Salgado J; Pasalodos-Sanchez S; Delgado-Mora L; Teijido Ó; Goicoechea I; Carmona (2024). Characterization of the Common Genetic Variation in the Spanish Population of Navarre. Genes, 15(5), -. DOI: 10.3390/genes15050585https://doi.org/10.3390/genes15050585
Convert-Pheno: A software toolkit for the interconversion of standard data models for phenotypic data2024-01-01Rueda, M; Leist, IC; Gut, IG (2024). Convert-Pheno: A software toolkit for the interconversion of standard data models for phenotypic data. Journal Of Biomedical Informatics, 149(), 104558-. DOI: 10.1016/j.jbi.2023.104558https://doi.org/10.1016/j.jbi.2023.104558
Enhancer-driven 3D chromatin domain folding modulates transcription in human mammary tumor cells2024-01-01Kocanova, S; Raynal, F; Goiffon, I; Oksuz, BA; Baú, D; Kamgoué, A; Cantaloube, S; Zhan, Y; Lajoie, B; Marti-Renom, MA; Dekker, J; Bystricky, K (2024). Enhancer-driven 3D chromatin domain folding modulates transcription in human mammary tumor cells. Life Sci Alliance, 7(2), e202302154-. DOI: 10.26508/lsa.202302154https://doi.org/10.26508/lsa.202302154
Illuminating the function of the orphan transporter, SLC22A10, in humans and other primates2024-01-01Yee SW; Ferrández-Peral L; Alentorn-Moron P; Fontsere C; Ceylan M; Koleske ML; Handin N; Artegoitia VM; Lara G; Chien H-C; Zhou X; Dainat J; Zalevsky (2024). Illuminating the function of the orphan transporter, SLC22A10, in humans and other primates. Nature Communications, 15(1), 4380-. DOI: 10.1038/s41467-024-48569-7https://doi.org/10.1038/s41467-024-48569-7
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy2024-01-01Estévez-Arias, B; Matalonga, L; Martorell, L; Codina, A; Ortez, C; Carrera-García, L; Expósito-Escudero, J; Yubero, D; Hoenicka, J; Jou, C; Palau, F; (2024). Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy. J Neuromuscul Dis, 11(3), 647-653. DOI: 10.3233/JND-230216https://doi.org/10.3233/JND-230216
Single-cell multi-omics analysis of COVID-19 patients with pre-existing autoimmune diseases shows aberrant immune responses to infection2024-01-01Barmada, A; Handfield, LF; Godoy-Tena, G; de la Calle-Fabregat, C; Ciudad, L; Arutyunyan, A; Andrés-León, E; Hoo, R; Porter, T; Oszlanczi, A; Richards (2024). Single-cell multi-omics analysis of COVID-19 patients with pre-existing autoimmune diseases shows aberrant immune responses to infection. European Journal Of Immunology, 54(1), e2350633-. DOI: 10.1002/eji.202350633https://doi.org/10.1002/eji.202350633
Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package2023-12-31Ruiz-Arenas, C; Abarrategui, L; Hernandez-Ferrer, C; Escribà-Montagut, X; Pelegrí-Sisó, D; Ryser-Welch, P; Vrijheid, M; Bustamante, M; Grazuleviciene, (2023). Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package. Epigenetics, 18(1), 2230670-. DOI: 10.1080/15592294.2023.2230670https://doi.org/10.1080/15592294.2023.2230670
Differential kinetics of splenic CD169+macrophage death is one underlying cause of virus infection fate regulation2023-12-18Casella, V; Domenjo-Vila, E; Esteve-Codina, A; Pedragosa, M; Rica, PC; Vidal, E; de la Rubia, I; López-Rodríguez, C; Bocharov, G; Argilaguet, J; Meyer (2023). Differential kinetics of splenic CD169+macrophage death is one underlying cause of virus infection fate regulation. Cell Death & Disease, 14(12), 838-. DOI: 10.1038/s41419-023-06374-yhttps://doi.org/10.1038/s41419-023-06374-y
Geometric morphometrics and paleoproteomics enlighten the paleodiversity of Pongo2023-12-15Kubat, J; Paterson, R; Patramanis, I; Barker, G; Demeter, F; Filoux, A; Kullmer, O; Mackie, M; Marques-Bonet, T; Huong, NTM; Tuan, NA; Pheng, S; Rippe (2023). Geometric morphometrics and paleoproteomics enlighten the paleodiversity of Pongo. Plos One, 18(12), e0291308-. DOI: 10.1371/journal.pone.0291308https://doi.org/10.1371/journal.pone.0291308
Atherosclerotic plaque development in mice is enhanced by myeloid ZEB1 downregulation2023-12-14Martinez-Campanario, MC; Cortés, M; Moreno-Lanceta, A; Han, L; Ninfali, C; Domínguez, V; Andrés-Manzano, MJ; Farràs, M; Esteve-Codina, A; Enrich, C; D (2023). Atherosclerotic plaque development in mice is enhanced by myeloid ZEB1 downregulation. Nature Communications, 14(1), 8316-. DOI: 10.1038/s41467-023-43896-7https://doi.org/10.1038/s41467-023-43896-7
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease2023-12-08Carmody, LC; Gargano, MA; Toro, S; Vasilevsky, NA; Adam, MP; Blau, H; Chan, LE; Gomez-Andres, D; Horvath, R; Kraus, ML; Ladewig, MS; Lewis-Smith, D; L (2023). The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease. Med, 4(12), 913-927.e3. DOI: 10.1016/j.medj.2023.10.003https://doi.org/10.1016/j.medj.2023.10.003
A chromosome-level reference genome for the common octopus, Octopus vulgaris (Cuvier, 1797)2023-12-06Destanovic, D; Schultz, DT; Styfhals, R; Cruz, F; Gómez-Garrido, J; Gut, M; Gut, I; Fiorito, G; Simakov, O; Alioto, TS; Ponte, G; Seuntjens, E (2023). A chromosome-level reference genome for the common octopus, Octopus vulgaris (Cuvier, 1797). G3-Genes Genomes Genetics, 13(12), -. DOI: 10.1093/g3journal/jkad220https://doi.org/10.1093/g3journal/jkad220
Enhanced Susceptibility to Tomato Chlorosis Virus (ToCV) in Hsp90- and Sgt1-Silenced Plants: Insights from Gene Expression Dynamics2023-12-01Ontiveros, I; Fernandez-Pozo, N; Esteve-Codina, A; Lopez-Moya, JJ; Diaz-Pendon, JA; Aranda, MA (2023). Enhanced Susceptibility to Tomato Chlorosis Virus (ToCV) in Hsp90- and Sgt1-Silenced Plants: Insights from Gene Expression Dynamics. Viruses-Basel, 15(12), 2370-. DOI: 10.3390/v15122370https://doi.org/10.3390/v15122370
Complex Evolutionary History With Extensive Ancestral Gene Flow in an African Primate Radiation2023-12-01Jensen, A; Swift, F; de Vries, D; Beck, RMD; Kuderna, LFK; Knauf, S; Chuma, IS; Keyyu, JD; Kitchener, AC; Farh, K; Rogers, J; Marques-Bonet, T; Detwil (2023). Complex Evolutionary History With Extensive Ancestral Gene Flow in an African Primate Radiation. Molecular Biology And Evolution, 40(12), msad247-. DOI: 10.1093/molbev/msad247https://doi.org/10.1093/molbev/msad247
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe2023-11-22Garnier, N; Berghout, J; Zygmunt, A; Singh, D; Huang, KA; Kantz, W; Blankart, CR; Gillner, S; Zhao, JW; Roettger, R; Saier, C; Kirschner, J; Schenk, J (2023). Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe. Plos One, 18(11), e0293503-. DOI: 10.1371/journal.pone.0293503https://doi.org/10.1371/journal.pone.0293503
Tumor heterogeneity and tumor-microglia interactions in primary and recurrent IDH1-mutant gliomas2023-11-21Blanco-Carmona, E; Narayanan, A; Hernandez, I; Nieto, JC; Elosua-Bayes, M; Sun, XY; Schmidt, C; Pamir, N; Ozduman, K; Herold-Mende, C; Pagani, F; Comi (2023). Tumor heterogeneity and tumor-microglia interactions in primary and recurrent IDH1-mutant gliomas. Cell Reports Medicine, 4(11), 101249-. DOI: 10.1016/j.xcrm.2023.101249https://doi.org/10.1016/j.xcrm.2023.101249
Inflammatory macrophages reprogram to immunosuppression by reducing mitochondrial translation2023-11-17Cortés, M; Brischetto, A; Martinez-Campanario, MC; Ninfali, C; Domínguez, V; Fernández, S; Celis, R; Esteve-Codina, A; Lozano, JJ; Sidorova, J; Garrab (2023). Inflammatory macrophages reprogram to immunosuppression by reducing mitochondrial translation. Nature Communications, 14(1), 7471-. DOI: 10.1038/s41467-023-42277-4https://doi.org/10.1038/s41467-023-42277-4