TitleDateAuthorsDOI
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
Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses2022-04-01Rodriguez-Ubreva, J; Arutyunyan, A; Bonder, MJ; Del Pino-Molina, L; Clark, SJ; de la Calle-Fabregat, C; Garcia-Alonso, L; Handfield, LF; Ciudad, L; An (2022). Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses. Nature Communications, 13(1), 1779-. DOI: 10.1038/s41467-022-29450-xhttps://doi.org/10.1038/s41467-022-29450-x
In vivo temporal resolution of acute promyelocytic leukemia progression reveals a role of Klf4 in suppressing early leukemic transformation2022-04-01Mas, G; Santoro, F; Blanco, E; Figueroa, GPG; Le Dily, F; Frigè, G; Vidal, E; Mugianesi, F; Ballaré, C; Gutierrez, A; Sparavier, A; Marti-Renom, MA; M (2022). In vivo temporal resolution of acute promyelocytic leukemia progression reveals a role of Klf4 in suppressing early leukemic transformation. Genes & Development, 36(7-8), 451-467. DOI: 10.1101/gad.349115.121https://doi.org/10.1101/gad.349115.121
Epigenetic landscape in the kick-and-kill therapeutic vaccine BCN02 clinical trial is associated with antiretroviral treatment interruption (ATI) outcome2022-04-01Oriol-Tordera, B; Esteve-Codina, A; Berdasco, M; Rosás-Umbert, M; Gonçalves, E; Duran-Castells, C; Català-Moll, F; Llano, A; Cedeño, S; Puertas, MC; T (2022). Epigenetic landscape in the kick-and-kill therapeutic vaccine BCN02 clinical trial is associated with antiretroviral treatment interruption (ATI) outcome. Ebiomedicine, 78(), 103956-. DOI: 10.1016/j.ebiom.2022.103956https://doi.org/10.1016/j.ebiom.2022.103956
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players2022-03-25Domingo-Gallego, A; Pybus, M; Bullich, G; Furlano, M; Ejarque-Vila, L; Lorente-Grandoso, L; Ruiz, P; Fraga, G; Gonzalez, ML; Pinero-Fernandez, JA; Rod (2022). Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. Nephrology Dialysis Transplantation, 37(4), 687-696. DOI: 10.1093/ndt/gfab019https://doi.org/10.1093/ndt/gfab019
Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood2022-03-18Ruiz-Arenas, C; Hernandez-Ferrer, C; Vives-Usano, M; Mari, S; Quintela, I; Mason, D; Cadiou, S; Casas, M; Andrusaityte, S; Gutzkow, KB; Vafeiadi, M; W (2022). Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood. Elife, 11(), e65310-. DOI: 10.7554/eLife.65310https://doi.org/10.7554/eLife.65310
Insights from the rescue and breeding management of Cuvier's gazelle (Gazella cuvieri) through whole-genome sequencing2022-03-01Alvarez-Estape, M; Fontsere, C; Serres-Armero, A; Kuderna, LFK; Dobrynin, P; Guidara, H; Pukazhenthi, BS; Koepfli, KP; Marques-Bonet, T; Moreno, E; Li (2022). Insights from the rescue and breeding management of Cuvier's gazelle (Gazella cuvieri) through whole-genome sequencing. Evolutionary Applications, 15(3), 351-364. DOI: 10.1111/eva.13336https://doi.org/10.1111/eva.13336
New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)2022-03-01Corral-Juan, M; Casquero, P; Giraldo-Restrepo, N; Laurie, S; Martinez-Pineiro, A; Mateo-Montero, RC; Ispierto, L; Vilas, D; Tolosa, E; Volpini, V; Alv (2022). New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49). Brain Commun, 4(2), fcac030-. DOI: 10.1093/braincomms/fcac030https://doi.org/10.1093/braincomms/fcac030
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis2022-03-01Estephan, EP; Zambon, AA; Thompson, R; Polavarapu, K; Jomaa, D; Töpf, A; Helito, PVP; Heise, CO; Moreno, CAM; Silva, AMS; Kouyoumdjian, JA; Morita, MD (2022). Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis. European Journal Of Neurology, 29(3), 833-842. DOI: 10.1111/ene.15173https://doi.org/10.1111/ene.15173
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization2022-03-01Schlüter, A; Rodríguez-Palmero, A; Verdura, E; Vélez-Santamaría, V; Ruiz, M; Fourcade, S; Planas-Serra, L; Martínez, JJ; Guilera, C; Girós, M; Artuch, (2022). Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization. Neurology, 98(9), E912-E923. DOI: 10.1212/WNL.0000000000013278https://doi.org/10.1212/WNL.0000000000013278
Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromas2022-02-15Mazuelas, H; Magallón-Lorenz, M; Fernández-Rodríguez, J; Uriarte-Arrazola, I; Richaud-Patin, Y; Terribas, E; Villanueva, A; Castellanos, E; Blanco, I; (2022). Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromas. Cell Reports, 38(7), 110385-. DOI: 10.1016/j.celrep.2022.110385https://doi.org/10.1016/j.celrep.2022.110385
DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data2022-02-07Bonet, J; Chen, MD; Dabad, M; Heath, S; Gonzalez-Perez, A; Lopez-Bigas, N; Lagergren, J (2022). DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data. Bioinformatics, 38(5), 1235-1243. DOI: 10.1093/bioinformatics/btab745https://doi.org/10.1093/bioinformatics/btab745