Examinant per Autoria "Beltran, Sergi"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing(Nature Research, 2015) Alioto, Tyler; Derdak, Sophia; Ribeca, Paolo; Castro Giner, Francesc; Beltran, Sergi; Raineri, Emanuele; Dabad, Marc; Heath, Simon; Gut, Marta; Gut, Ivo Glynne
Ítem Accés Obert Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease(Cell Press, 2020) Gungor, Serdal; Aranguren-Ibáñez, Álvaro; Laurie, Steven, 1973-; Beltran, Sergi; Vernos, Isabelle, 1959-; Horvath, Rita
Ítem Accés Obert Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion(Springer, 2020) McMacken, Grace M.; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F.; Laurie, Steven, 1973-; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita
Ítem Accés Obert Benchmarking of whole exome sequencing and ad hoc designed panels for genetic testing of hereditary cancer(Nature Research, 2017) Feliubadaló, Lídia; Tonda, Raúl; Trotta, Jean-Remi; Gut, Marta; Gut, Ivo Glynne; Beltran, Sergi; Lázaro García, Conxi
Ítem Accés Obert Characterization of the common genetic variation in the spanish population of Navarre(MDPI, 2024) Maillo, Alberto; Beltran, Sergi; Gómez Cabrero, David
Ítem Accés Obert ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization(BioMed Central, 2023) Schlüter, Agatha; Bullich, Gemma; Beltran, Sergi; Pérez Jurado, Luis Alberto; Pujol, Aurora, 1968-
Ítem Accés Obert Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia(Nature Research, 2019) González-Rincón, Julia; Gómez, Sagrario; Martinez, Nerea; Troulé, Kevin; Perales-Patón, Javier; Derdak, Sophia; Beltran, Sergi; Fernández-Cuevas, Belén; Pérez-Sanz, Nuria; Nova-Gurumeta, Sara; Gut, Ivo Glynne; Al-Shahrour, Fátima; Piris, Miguel A.; García-Marco, J. A.; Sánchez-Beato, Margarita
Ítem Accés Obert COL4A1-related autosomal recessive encephalopathy in 2 Turkish children(Lippincott Williams & Wilkins, 2020) Yaramis, Ahmet; Lochmüller, Hanns; Töpf, Ana; Sonmezler, Ece; Yilmaz, Elmasnur; Hiz, Semra; Yis, Uluc; Gungor, Serdal; Polat, Ayse Ipek; Edem, Pinar; Beltran, Sergi; Laurie, Steven, 1973-; Yaramis, Aysenur; Horvath, Rita; Oktay, Yavuz
Ítem Accés Obert Diagnosis of genetic white matter disorders by Singleton whole-exome and genome sequencing using interactome-driven prioritization(Lippincott Williams & Wilkins, 2022) Schlüter, Agatha; Beltran, Sergi; Gut, Marta; Pérez Jurado, Luis Alberto; GWMD working group
Ítem Accés Obert Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package(Taylor & Francis, 2023) Ruiz-Arenas, Carlos; Abarrategui, Leire; Hernandez-Ferrer, Carles, 1987-; Pelegrí, Dolors; Ryser-Welch, Patricia; Vrijheid, Martine; Bustamante Pineda, Mariona; Gražulevičienė, Regina; Lepeule, Johanna; Mathai, Mathew; Vafeiadi, Marina, 1983-; Beltran, Sergi; Pérez Jurado, Luis Alberto; González, Juan Ramón
Ítem Accés Obert Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment(Molecular Vision, 2020) García-García, Gema; Sanchez-Navarro, Iker; Aller, Elena; Jaijo, Teresa; Fuster-García, Carla; Rodríguez-Munoz, Ana; Vallejo, Elena; Tellería, Juan José; Vázquez, Selma; Beltran, Sergi; Derdak, Sophia; Zurita, Olga; Villaverde-Montero, Cristina; Avila-Fernández, Almudena; Cortón, Marta; Blanco-Kelly, Fiona; Hakonarson, Hakon; Millán, José M.; Ayuso, Carmen
Ítem Accés Obert Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources(Oxford University Press, 2019) Köhler, Sebastian; Beltran, Sergi; Lochmüller, Hanns
Ítem Accés Obert Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data(Springer Nature, 2021) 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-
Ítem Accés Obert Framework for quality assessment of whole genome cancer sequences(Nature Research, 2020) Whalley, Justin P.; Stobbe, Miranda D.; Beltran, Sergi; Gut, Marta; Trotta, Jean-Remi; Gut, Ivo Glynne
Ítem Accés Obert From research to rapid response: mass COVID-19 testing by volunteers at the Centre for Genomic Regulation(F1000Research, 2020) Ghose, Ritobrata; Aranguren-Ibáñez, Álvaro; Arecco, Niccolò; Balboa, Diego; Bataller, Marc; Beltran, Sergi; Benisty, Hannah, 1986-; Bénard, Angèle; Bernardo, Edgar; Carbonell Sala, Silvia; Casals, Eloi; Ciampi, Ludovica; Condemi, Livia; Corvò, Alberto; Cosín Tomàs, Marta; Cuenca-Ardura, Mirabai; Duran Serrano, Juan Manuel; Espejo Díaz, María Isabel; Fernández Callejo, Marcos; Gañez-Zapater, Antoni; Garcia-Castellanos, Raquel; Garrido, Romina; Henkin, Gil; Hermoso Pulido, Antonio; Hernandez-Alias, Xavier; Herrero Vicente, Jorge; Ingham, Matthew; Lim, Wei Ming; Llonch, Sílvia; Marmesat Bertoli, Elena; Miguel Escalada, Irene; Montero-Blay, Ariadna, 1994-; Navarrete Hernández, Cristina; Neguembor, Maria Victoria; Ní Chárthaigh, Róisín-Ana; Pardo-Lorente, Natalia; Pascual-Reguant, Laura, 1990-; Pérez-Lluch, Sílvia; Perza, Reyes; Pesaresi, Martina, 1991-; Picó Amado, Daniel; Pifarré, Paula; Piscia, Davide; Plana-Carmona, Marcos; Ponomarenko, Julia; Radusky, Leandro; Rivero, Ezequiel; Rogalska, Malgorzata; Torcal Garcia, Guillem, 1991-; Wojnacki, José
Ítem Accés Obert From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing(Wiley, 2016) Laurie, Steven, 1973-; Fernández Callejo, Marcos; Marco Sola, Santiago; Trotta, Jean-Remi; Camps-Puchadas, Jordi; Chacón, Alejandro; Espinosa, Antonio; Gut, Marta; Gut, Ivo Glynne; Heath, Simon; Beltran, Sergi
Ítem Accés Obert GA4GH: International policies and standards for data sharing across genomic research and healthcare(Elsevier, 2021) Rehm, Heidi L.; Beltran, Sergi; Guigó Serra, Roderic; Navarro i Cuartiellas, Arcadi, 1969-; Palumbo, Emilio; Rambla de Argila, Jordi; Birney, Ewan
Ítem Accés Obert Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma(Ferrata Storti Foundation, 2020) 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
Ítem Accés Obert High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases(Oxford University Press, 2022) Kurul, Semra Hiz; Matalonga, Leslie; Paramonov, Ida; Laurie, Steven, 1973-; Beltran, Sergi; Lochmüller, Hanns; Horvath, Rita
Ítem Accés Obert Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes(BioMed Central, 2016) Clop, Alex; Sharaf, Abdoallah; Castelló, Anna; Ramos-Onsins, Sebastián; Cirera, Susanna; Mercadé, Anna; Derdak, Sophia; Beltran, Sergi; Huisman, Abe; Fredholm, Merete; van As, Pieter; Sánchez, Armand
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