Browsing by Author "Tonda, Raúl"

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  • Urreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla-Vallmanya, Laura; Tonda, Raúl; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana (Nature Research, 2018)
    De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically ...
  • Keraite, Ieva; Becker, Philipp; Canevazzi, Davide; Frias-López, Cristina; Dabad, Marc; Tonda, Raúl; Paramonov, Ida; Ingham, Matthew; Brun-Heath, Isabelle; Leno, Jordi; Abulí, Anna; García-Arumí, Elena; Heath, Simon; Gut, Marta; Gut, Ivo Glynne (Nature Research, 2022)
    Methods to reconstruct the mitochondrial DNA (mtDNA) sequence using short-read sequencing come with an inherent bias due to amplification and mapping. They can fail to determine the phase of variants, to capture multiple ...
  • Feliubadaló, Lídia; Tonda, Raúl; Trotta, Jean-Remi; Gut, Marta; Gut, Ivo Glynne; Beltran, Sergi; Lázaro García, Conxi (Nature Research, 2017)
    Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared to exome ...
  • Giménez Xavier, Pol; Pros, Eva; Aza, Ana; Moran, Sebastian; Tonda, Raúl; Esteve-Codina, Anna; Dabad, Marc; Sánchez Céspedes, Montse (Impact Journals, 2018)
    The development of acquired resistance (AR) to tyrosine kinase inhibitors (TKIs) of FGFR1 activation is currently not well understood. To gain a deeper insight into this matter in lung cancer, we used the FGFR1-amplified ...
  • Maceda Porto, Iago, 1986-; Martín Álvarez, Miguel; Athanasiadis, Georgios; Tonda, Raúl; Camps-Puchadas, Jordi; Beltran, Sergi; Camps, Agustí; Fàbrega, Jordi; Felisart, Josefina; Grané, Joan; Remón, José Luis; Serra, Jordi; Moral, Pedro; Lao Grueso, Oscar, 1976- (Springer Nature, 2021)
    The area of the Spanish Pyrenees is particularly interesting for studying the demographic dynamics of European rural areas given its orography, the main traditional rural condition of its population and the reported higher ...
  • García Reyero, Júlia; Martínez Magunacelaya, Nerea; González de Villambrosía, Sonia; Loghavi, Sanam; Gómez Mediavilla, Ángela; Tonda, Raúl; Beltran, Sergi; Gut, Marta; Pereña González, Ainara; d'Ámore, Emanuele; Visco, Carlo; Khoury, Joseph D.; Montes-Moreno, Santiago (Ferrata Storti Foundation, 2020)
    Plasmablastic lymphoma mutational profile is undescribed. Here we performed a targeted exonic NGS analysis of 30 plasmablastic lymphoma cases with a B cell lymphoma dedicated panel and FISH for the detection of MYC ...
  • de Castro-Miró, Marta; Tonda, Raúl; Escudero-Ferruz, Paula; Andrés, Rosa; Mayor-Lorenzo, Andrés; Castro, Joaquín; Ciccioli, Marcela; Hidalgo, Daniel A.; Rodríguez-Ezcurra, Juan José; Farrando, Jorge; Pérez-Santonja, Juan J.; Cormand, Bru; Marfany, Gemma; Gonzàlez-Duarte, Roser (Public Library of Science (PLoS), 2016)
    Background. NGS-based genetic diagnosis has completely revolutionized the human genetics field. In this study, we have aimed to identify new genes and mutations by Whole Exome Sequencing (WES) responsible for inherited ...
  • Pablo Fontecha, Verónica; Hernández-Illán, Eva; Reparaz, Andrea; Asensio Juan, Elena; Morata, Jordi; Tonda, Raúl; Lahoz, Sara; Parra, Carolina; Lozano, Juan José; García-Heredia, Anabel; Martínez-Roca, Alejandro; Beltran, Sergi; Balaguer, Francesc; Jover, Rodrigo; Castells, Antoni; Trullàs, Ramón; Podlesniy, Petar; Camps-Puchadas, Jordi (Nature Research, 2023)
    Somatic single-nucleotide variants (SNVs) occur every time a cell divides, appearing even in healthy tissues at low frequencies. These mutations may accumulate as neutral variants during aging, or eventually, promote the ...
  • Matalonga, Leslie; Hernández Ferrer, Carles; Piscia, Davide; Tonda, Raúl; Laurie, Steven, 1973-; Fernández Callejo, Marcos; Picó, Daniel; Garcia-Linares, Carles; Papakonstantinou Ntalis, Anastasios; Corvò, Alberto; Joshi, Ricky S.; Diez, Hector; Gut, Ivo Glynne; Beltran, Sergi; Solve-RD Consortium (Nature Research, 2021)
    Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and ...
  • Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou Ntalis, Anastasios; Piscia, Davide; Tonda, Raúl; González, Juan Ramón; Laurie, Steven, 1973-; Luengo, Cristina; Ovelleiro, David; Parra Farré, Genís; Pérez Jurado, Luis Alberto; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium (Elsevier, 2022)
    Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive ...
  • Villanueva-Mendoza, Cristina; Tusón, Miquel; Apam-Garduño, David; de Castro-Miró, Marta; Tonda, Raúl; Trotta, Jean-Remi; Marfany, Gemma; Valero, Rebeca; Cortés-González, Vianney; Gonzàlez-Duarte, Roser (MDPI, 2021)
    In this work, we aimed to provide the genetic diagnosis of a large cohort of patients affected with inherited retinal dystrophies (IRDs) from Mexico. Our data add valuable information to the genetic portrait in rare ocular ...
  • Laurie, Steven, 1973-; Piscia, Davide; Matalonga, Leslie; Corvò, Alberto; Fernández Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles, 1987-; Luengo, Cristina; Martínez, Inés; Papakonstantinou Ntalis, Anastasios; Picó-Amador, Daniel; Protasio, Joan; Tonda, Raúl; Bayés, Mònica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Pérez Jurado, Luis Alberto; Rambla de Argila, Jordi; Gut, Ivo Glynne; Lochmüller, Hanns; Beltran, Sergi (Wiley, 2022)
    Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, ...
  • Mármol-Sánchez, Emilio; Luigi-Sierra, María Gracia; Castelló, Anna; Guan, Dailu; Quintanilla, Raquel; Tonda, Raúl; Amills, Marcel (BioMed Central, 2021)
    Background: Mature microRNAs (miRNAs) play an important role in repressing the expression of a wide range of mRNAs. The presence of polymorphic sites in miRNA genes and their corresponding 3'UTR binding sites can disrupt ...
  • Ferré Fernández, Jesús José; Aroca Aguilar, José Daniel; Medina Trillo, Cristina; Bonet Fernández, Juan Manuel; Méndez Hernández, Carmen Dora; Morales Fernández, Laura; Cortón, Marta; Cabañero Valera, María José; Gut, Marta; Tonda, Raúl; Ayuso, Carmen; Coca Prados, Miguel; García Feijóo, Julián; Escribano, Julio (Nature Publishing Group, 2017)
    Congenital glaucoma (CG) is a heterogeneous, inherited and severe optical neuropathy that originates from maldevelopment of the anterior segment of the eye. To identify new disease genes, we performed whole-exome sequencing ...
  • Quintana, Isabel; Tonda, Raúl; Parra Farré, Genís; Piscia, Davide; Beltran, Sergi; Valle, Laura (Elsevier, 2023)

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