TitleDateReferenceDOI
The onset of PI3K-related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib2022-07-07Kobialka, P; Sabata, H; Vilalta, O; Gouveia, L; Angulo-Urarte, A; Muixi, L; Zanoncello, J; Munoz-Aznar, O; Olaciregui, NG; Fanlo, L; Esteve-Codina, A; (2022). The onset of PI3K-related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib. Embo Molecular Medicine, 14(7), e15619-. DOI: 10.15252/emmm.202115619https://doi.org/10.15252/emmm.202115619
Position paper on management of personal data in environment and health research in Europe2022-07-01Eva, G; Liese, G; Stephanie, B; Petr, H; Leslie, M; Roel, V; Martine, V; Sergi, B; Mette, H; Sarah, J; Laura, RM; Arnout, S; Morris, AS; Jan, T; Xenia (2022). Position paper on management of personal data in environment and health research in Europe. Environment International, 165(), 107334-. DOI: 10.1016/j.envint.2022.107334https://doi.org/10.1016/j.envint.2022.107334
Two hundred and five newly assembled mitogenomes provide mixed evidence for rivers as drivers of speciation for Amazonian primates2022-07-01Janiak, MC; Silva, FE; Beck, RMD; de Vries, D; Kuderna, LFK; Torosin, NS; Melin, AD; Marques-Bonet, T; Goodhead, IB; Messias, M; da Silva, MNF; Sampai (2022). Two hundred and five newly assembled mitogenomes provide mixed evidence for rivers as drivers of speciation for Amazonian primates. Molecular Ecology, 31(14), 3888-3902. DOI: 10.1111/mec.16554https://doi.org/10.1111/mec.16554
Early detection and improved genomic surveillance of SARS-CoV-2 variants from deep sequencing data2022-06-17Ramazzotti, D; Maspero, D; Angaroni, F; Spinelli, S; Antoniotti, M; Piazza, R; Graudenzi, A (2022). Early detection and improved genomic surveillance of SARS-CoV-2 variants from deep sequencing data. Iscience, 25(6), 104487-. DOI: 10.1016/j.isci.2022.104487https://doi.org/10.1016/j.isci.2022.104487
Controlled X-chromosome dynamics defines meiotic potential of female mouse in vitro germ cells2022-06-14Severino, J; Bauer, M; Mattimoe, T; Arecco, N; Cozzuto, L; Lorden, P; Hamada, N; Nosaka, Y; Nagaoka, SI; Audergon, P; Tarruell, A; Heyn, H; Hayashi, K (2022). Controlled X-chromosome dynamics defines meiotic potential of female mouse in vitro germ cells. Embo Journal, 41(12), e109457-. DOI: 10.15252/embj.2021109457https://doi.org/10.15252/embj.2021109457
Population dynamics and genetic connectivity in recent chimpanzee history2022-06-08Fontsere, C; Kuhlwilm, M; Morcillo-Suarez, C; Alvarez-Estape, M; Lester, JD; Gratton, P; Schmidt, JM; Dieguez, P; Aebischer, T; Alvarez-Varona, P; Agb (2022). Population dynamics and genetic connectivity in recent chimpanzee history. Cell Genom, 2(6), -. DOI: 10.1016/j.xgen.2022.100133https://doi.org/10.1016/j.xgen.2022.100133
Native RNA sequencing in fission yeast reveals frequent alternative splicing isoforms2022-06-01Montanes, JC; Huertas, M; Moro, SG; Blevins, WR; Carmona, M; Ayte, J; Hidalgo, E; Alba, MM (2022). Native RNA sequencing in fission yeast reveals frequent alternative splicing isoforms. Genome Research, 32(6), 1215-1227. DOI: 10.1101/gr.276516.121https://doi.org/10.1101/gr.276516.121
Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool2022-06-01Villafranca-Magdalena, B; Masferrer-Ferragutcasas, C; Lopez-Gil, C; Coll-de la Rubia, E; Rebull, M; Parra, G; García, A; Reques, A; Cabrera, S; Colas, (2022). Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool. International Journal Of Molecular Sciences, 23(11), 6266-. DOI: 10.3390/ijms23116266https://doi.org/10.3390/ijms23116266
The RD?Connect Genome?Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases2022-06-01Laurie, S; Piscia, D; Matalonga, L; Corvó, A; Fernández-Callejo, M; Garcia-Linares, C; Hernandez-Ferrer, C; Luengo, C; Martínez, I; Papakonstantinou, (2022). The RD?Connect Genome?Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human Mutation, 43(6), 717-733. DOI: 10.1002/humu.24353https://doi.org/10.1002/humu.24353
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita2022-06-01Laquerriere, A; Jaber, D; Abiusi, E; Maluenda, J; Mejlachowicz, D; Vivanti, A; Dieterich, K; Stoeva, R; Quevarec, L; Nolent, F; Biancalana, V; Latour, (2022). Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Journal Of Medical Genetics, 59(6), 559-567. DOI: 10.1136/jmedgenet-2020-107595https://doi.org/10.1136/jmedgenet-2020-107595
Chromosome-level assembly, annotation and phylome of Pelobates cultripes, the western spadefoot toad2022-05-27Liedtke, HC; Cruz, F; Gómez-Garrido, J; Palacios, DF; Marcet-Houben, M; Gut, M; Alioto, T; Gabaldón, T; Gomez-Mestre, I (2022). Chromosome-level assembly, annotation and phylome of Pelobates cultripes, the western spadefoot toad. Dna Research, 29(3), dsac013-. DOI: 10.1093/dnares/dsac013https://doi.org/10.1093/dnares/dsac013
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions2022-05-11Olson, ND; Wagner, J; McDaniel, J; Stephens, SH; Westreich, ST; Prasanna, AG; Johanson, E; Boja, E; Maier, EJ; Serang, O; Jáspez, D; Lorenzo-Salazar, (2022). PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions. Cell Genom, 2(5), 100129-. DOI: 10.1016/j.xgen.2022.100129https://doi.org/10.1016/j.xgen.2022.100129
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases2022-05-01Bullich, G; Matalonga, L; Pujadas, M; Papakonstantinou, A; Piscia, D; Artuch, R; Gallano, P; Garrabou, G; Gonzalez, JR; Grinberg, D; Guitart, M; Lauri (2022). Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. Journal Of Molecular Diagnostics, 24(5), 529-542. DOI: 10.1016/j.jmoldx.2022.02.003https://doi.org/10.1016/j.jmoldx.2022.02.003
PLCγ1/PKCθ Downstream Signaling Controls Cutaneous T-Cell Lymphoma Development And Progression2022-05-01García-Díaz, N; Casar, B; Alonso-Alonso, R; Quevedo, L; Rodríguez, M; Ruso-Julve, F; Esteve-Codina, A; Gut, M; Gru, AA; González-Vela, MC; Gut, I; Rod (2022). PLCγ1/PKCθ Downstream Signaling Controls Cutaneous T-Cell Lymphoma Development And Progression. Journal Of Investigative Dermatology, 142(5), 1391-+. DOI: 10.1016/j.jid.2021.09.024https://doi.org/10.1016/j.jid.2021.09.024
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD2022-05-01Sommer, AK; Te Paske, IBAW; Garcia-Pelaez, J; Laner, A; Holinski-Feder, E; Steinke-Lange, V; Peters, S; Valle, L; Spier, I; Huntsman, D; De Voer, RM; (2022). Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD. European Journal Of Medical Genetics, 65(5), 104475-. DOI: 10.1016/j.ejmg.2022.104475https://doi.org/10.1016/j.ejmg.2022.104475
Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes2022-04-28Lobon, I; Solis-Moruno, M; Juan, DV; Muhaisen, A; Abascal, F; Esteller-Cucala, P; Garcia-Perez, R; Marti, MJ; Tolosa, E; Avila, J; Rahbari, R; Marques (2022). Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes. Frontiers In Aging, 3(), 851039-. DOI: 10.3389/fragi.2022.851039https://doi.org/10.3389/fragi.2022.851039
Coordinated changes in gene expression, H1 variant distribution and genome 3D conformation in response to H1 depletion2022-04-22Serna-Pujol, N; Salinas-Pena, M; Mugianesi, F; Le Dily, F; Marti-Renom, MA; Jordan, A (2022). Coordinated changes in gene expression, H1 variant distribution and genome 3D conformation in response to H1 depletion. Nucleic Acids Research, 50(7), 3892-3910. DOI: 10.1093/nar/gkac226https://doi.org/10.1093/nar/gkac226
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases2022-04-07Kurul, SH; Oktay, Y; Töpf, A; Szabó, NZ; Güngör, S; Yaramis, A; Sonmezler, E; Matalonga, L; Yis, U; Schon, K; Paramonov, I; Kalafatcilar, IP; Gao, F; (2022). High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain, 145(4), 1507-1518. DOI: 10.1093/brain/awab395https://doi.org/10.1093/brain/awab395
A New Variant of the aadE-sat4-aphA-3 Gene Cluster Found in a Conjugative Plasmid from a MDR Campylobacter jejuni Isolate2022-04-01Guirado, P; Miró, E; Iglesias-Torrens, Y; Navarro, F; Campoy, S; Alioto, TS; Gómez-Garrido, J; Madrid, C; Balsalobre, C (2022). A New Variant of the aadE-sat4-aphA-3 Gene Cluster Found in a Conjugative Plasmid from a MDR Campylobacter jejuni Isolate. Antibiotics, 11(4), 466-. DOI: 10.3390/antibiotics11040466https://doi.org/10.3390/antibiotics11040466
Serum miRNAs as biomarkers for the rare types of muscular dystrophy2022-04-01Koutsoulidou, A; Koutalianos, D; Georgiou, K; Kakouri, AC; Oulas, A; Tomazou, M; Kyriakides, TC; Roos, A; Papadimas, GK; Papadopoulos, C; Kararizou, E (2022). Serum miRNAs as biomarkers for the rare types of muscular dystrophy. Neuromuscular Disorders, 32(4), 332-346. DOI: 10.1016/j.nmd.2022.03.003https://doi.org/10.1016/j.nmd.2022.03.003