Browsing by Author "Tonda, Raúl"

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  • A de novo FOXP1 truncating mutation in a patient originally diagnosed as C syndrome
    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 ...
  • A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome
    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 ...
  • Deep analysis of acquired resistance to FGFR1 inhibitor identifies MET and AKT activation and an expansion of AKT1 mutant cells
    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 ...
  • Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data
    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 ...
  • Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma
    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 ...
  • Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
    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 ...
  • Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases
    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 ...
  • The genetic landscape of inherited retinal diseases in a Mexican cohort: genes, mutations and phenotypes
    Villanueva-Mendoza, Cristina; Tusón, Miquel; Apam-Garduño, David; de Castro-Miro, 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 ...
  • The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
    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, ...
  • Variability in porcine microRNA genes and its association with mRNA expression and lipid phenotypes
    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 ...
  • Whole-exome sequencing of congenital glaucoma patients reveals hypermorphic variants in GPATCH3, a new gene involved in ocular and craniofacial development
    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 ...
  • Wnt genes in colonic polyposis predisposition
    Quintana, Isabel; Tonda, Raúl; Parra Farré, Genís; Piscia, Davide; Beltran, Sergi; Valle, Laura (Elsevier, 2023)