Next generation sequencing gives an insight into the characteristics of highly selected breeds versus non-breed horses in the course of domestication

por Metzger, Julia, Tonda, Raul, Beltran, Sergi, Águeda, Lídia, Gut, Marta, Distl, Ottmar
Publicado 2014

Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses

por Metzger, Julia, Karwath, Matthias, Tonda, Raul, Beltran, Sergi, Águeda, Lídia, Gut, Marta, Gut, Ivo Glynne, Distl, Ottmar
Publicado 2015

Variability in porcine microRNA genes and its association with mRNA expression and lipid phenotypes

por Mármol-Sánchez, Emilio, Luigi-Sierra, María Gracia, Castelló, Anna, Guan, Dailu, Quintanilla, Raquel, Tonda, Raul, Amills, Marcel
Publicado 2021

Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies

por de Castro-Miró, Marta, Pomares, Esther, Lorés-Motta, Laura, Tonda, Raul, Dopazo, Joaquín, Marfany, Gemma, Gonzàlez-Duarte, Roser
Publicado 2014

Deep analysis of acquired resistance to FGFR1 inhibitor identifies MET and AKT activation and an expansion of AKT1 mutant cells

por Gimenez-Xavier, Pol, Pros, Eva, Aza, Ana, Moran, Sebastian, Tonda, Raul, Esteve-Codina, Anna, Dabad, Marc, Sanchez-Cespedes, Montse
Publicado 2018

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

por Urreizti, Roser, Damanti, Sarah, Esteve, Carla, Franco-Valls, Héctor, Castilla-Vallmanya, Laura, Tonda, Raul, Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana
Publicado 2018

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

por Villanueva-Mendoza, Cristina, Tuson, Miquel, Apam-Garduño, David, de Castro-Miró, Marta, Tonda, Raul, Trotta, Jean Remi, Marfany, Gemma, Valero, Rebeca, Cortés-González, Vianney, Gonzàlez-Duarte, Roser
Publicado 2021

Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data

por Maceda, Iago, Álvarez, Miguel Martín, Athanasiadis, Georgios, Tonda, Raúl, Camps, Jordi, Beltran, Sergi, Camps, Agustí, Fàbrega, Jordi, Felisart, Josefina, Grané, Joan, Remón, José Luis, Serra, Jordi, Moral, Pedro, Lao, Oscar
Publicado 2021

Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma

por Garcia-Reyero, Julia, Magunacelaya, Nerea Martinez, de Villambrosia, Sonia Gonzalez, Loghavi, Sanam, Mediavilla, Angela Gomez, Tonda, Raul, Beltran, Sergi, Gut, Marta, Gonzalez, Ainara Pereña, D’Ámore, Emmanuel, Visco, Carlo, Khoury, Joseph D., Montes-Moreno, Santiago
Publicado 2020

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

por de Castro-Miró, Marta, Tonda, Raul, 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
Publicado 2016

Quantification of rare somatic single nucleotide variants by droplet digital PCR using SuperSelective primers

por Pablo-Fontecha, Verónica, Hernández-Illán, Eva, Reparaz, Andrea, Asensio, 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, Ramon, Podlesniy, Petar, Camps, Jordi
Publicado 2023

An In-Depth Characterization of the Major Psoriasis Susceptibility Locus Identifies Candidate Susceptibility Alleles within an HLA-C Enhancer Element

por Clop, Alex, Bertoni, Anna, Spain, Sarah L., Simpson, Michael A., Pullabhatla, Venu, Tonda, Raul, Hundhausen, Christian, Di Meglio, Paola, De Jong, Pieter, Hayday, Adrian C., Nestle, Frank O., Barker, Jonathan N., Bell, Robert J. A., Capon, Francesca, Trembath, Richard C.
Publicado 2013

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

por Ferre-Fernández, Jesús-José, Aroca-Aguilar, José-Daniel, Medina-Trillo, Cristina, Bonet-Fernández, Juan-Manuel, Méndez-Hernández, Carmen-Dora, Morales-Fernández, Laura, Corton, Marta, Cabañero-Valera, María-José, Gut, Marta, Tonda, Raul, Ayuso, Carmen, Coca-Prados, Miguel, García-Feijoo, Julián, Escribano, Julio
Publicado 2017

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

por Feliubadaló, Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean-Rémi, Castellanos, Elisabeth, López-Doriga, Adriana, Teulé, Àlex, Tornero, Eva, del Valle, Jesús, Gel, Bernat, Gut, Marta, Pineda, Marta, González, Sara, Menéndez, Mireia, Navarro, Matilde, Capellá, Gabriel, Gut, Ivo, Serra, Eduard, Brunet, Joan, Beltran, Sergi, Lázaro, Conxi
Publicado 2017

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

por Matalonga, Leslie, Hernández-Ferrer, Carles, Piscia, Davide, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, Vissers, Lisenka E. L. M., de Voer, Richarda, Tonda, Raul, Laurie, Steven, Fernandez-Callejo, Marcos, Picó, Daniel, Garcia-Linares, Carles, Papakonstantinou, Anastasios, Corvó, Alberto, Joshi, Ricky, Diez, Hector, Gut, Ivo, Hoischen, Alexander, Graessner, Holm, Beltran, Sergi
Publicado 2021

A critical spotlight on the paradigms of FFPE-DNA sequencing

por Steiert, Tim A, Parra, Genís, Gut, Marta, Arnold, Norbert, Trotta, Jean-Rémi, Tonda, Raúl, Moussy, Alice, Gerber, Zuzana, Abuja, Peter M, Zatloukal, Kurt, Röcken, Christoph, Folseraas, Trine, Grimsrud, Marit M, Vogel, Arndt, Goeppert, Benjamin, Roessler, Stephanie, Hinz, Sebastian, Schafmayer, Clemens, Rosenstiel, Philip, Deleuze, Jean-François, Gut, Ivo G, Franke, Andre, Forster, Michael
Publicado 2023

Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome

por Guijarro, Francesca, López-Guerra, Monica, Morata, Jordi, Bataller, Alex, Paz, Sara, Cornet-Masana, Josep Maria, Banús-Mulet, Antònia, Cuesta-Casanovas, Laia, Carbó, Josep Maria, Castaño-Díez, Sandra, Jiménez-Vicente, Carlos, Cortés-Bullich, Albert, Triguero, Ana, Martínez-Roca, Alexandra, Esteban, Daniel, Gómez-Hernando, Marta, Álamo Moreno, José Ramón, López-Oreja, Irene, Garrote, Marta, Risueño, Ruth M., Tonda, Raúl, Gut, Ivo, Colomer, Dolors, Díaz-Beya, Marina, Esteve, Jordi
Publicado 2023

Wnt genes in colonic polyposis predisposition

por Quintana, Isabel, Terradas, Mariona, Mur, Pilar, te Paske, Iris B.A.W., Peters, Sophia, Spier, Isabel, Steinke-Lange, Verena, Maestro, Claudia, Torrents, David, Puiggròs, Montserrat, Royo, Romina, Tonda, Raul, Parra, Genís, Piscia, Davide, Beltrán, Sergi, Navarro, Matilde, Piñol, Virginia, Brunet, Joan, Gonzalez-Abuin, Noemi, Aiza, Gemma, Sommer, Anna, van Herwaarden, Yasmijn, Astuti, Galuh, Holinski-Feder, Elke, Hoogerbrugge, Nicoline, de Voer, Richarda M., Aretz, Stefan, Capellá, Gabriel, Valle, Laura
Publicado 2022

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

por Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvó, Alberto, Fernández‐Callejo, Marcos, Garcia‐Linares, Carles, Hernandez‐Ferrer, Carles, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó‐Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayés, Mònica, Bullich, Gemma, Camps‐Puchadas, Jordi, Paramonov, Ida, Trotta, Jean‐Rémi, Alonso, Angel, Attimonelli, Marcella, Béroud, Christophe, Bros‐Facer, Virginie, Buske, Orion J., Cañada‐Pallarés, Andrés, Fernández, José M., Hansson, Mats G., Horvath, Rita, Jacobsen, Julius O.B., Kaliyaperumal, Rajaram, Lair‐Préterre, Séverine, Licata, Luana, Lopes, Pedro, López‐Martín, Estrella, Mascalzoni, Deborah, Monaco, Lucia, Pérez‐Jurado, Luis A., Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N., Salgado, David, Smedley, Damian, Spalding, Dylan, 't Hoen, Peter A. C., Töpf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G., Lochmüller, Hanns, Beltran, Sergi
Publicado 2022

PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions

por Olson, Nathan D., Wagner, Justin, McDaniel, Jennifer, Stephens, Sarah H., Westreich, Samuel T., Prasanna, Anish G., Johanson, Elaine, Boja, Emily, Maier, Ezekiel J., Serang, Omar, Jáspez, David, Lorenzo-Salazar, José M., Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A., Flores, Carlos, Kyriakidis, Konstantinos, Malousi, Andigoni, Shafin, Kishwar, Pesout, Trevor, Jain, Miten, Paten, Benedict, Chang, Pi-Chuan, Kolesnikov, Alexey, Nattestad, Maria, Baid, Gunjan, Goel, Sidharth, Yang, Howard, Carroll, Andrew, Eveleigh, Robert, Bourgey, Mathieu, Bourque, Guillaume, Li, Gen, Ma, ChouXian, Tang, LinQi, Du, YuanPing, Zhang, ShaoWei, Morata, Jordi, Tonda, Raúl, Parra, Genís, Trotta, Jean-Rémi, Brueffer, Christian, Demirkaya-Budak, Sinem, Kabakci-Zorlu, Duygu, Turgut, Deniz, Kalay, Özem, Budak, Gungor, Narcı, Kübra, Arslan, Elif, Brown, Richard, Johnson, Ivan J., Dolgoborodov, Alexey, Semenyuk, Vladimir, Jain, Amit, Tetikol, H. Serhat, Jain, Varun, Ruehle, Mike, Lajoie, Bryan, Roddey, Cooper, Catreux, Severine, Mehio, Rami, Ahsan, Mian Umair, Liu, Qian, Wang, Kai, Ebrahim Sahraeian, Sayed Mohammad, Fang, Li Tai, Mohiyuddin, Marghoob, Hung, Calvin, Jain, Chirag, Feng, Hanying, Li, Zhipan, Chen, Luoqi, Sedlazeck, Fritz J., Zook, Justin M.
Publicado 2022