Works by Beltran, Sergi

Results: 39
    1
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    Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

    Published in:
    Human Mutation, 2019, v. 40, n. 10, p. 1700, doi. 10.1002/humu.23779
    By:
    • Tort, Frederic;
    • Ugarteburu, Olatz;
    • Texidó, Laura;
    • Gea‐Sorlí, Sabrina;
    • García‐Villoria, Judit;
    • Ferrer‐Cortès, Xènia;
    • Arias, Ángela;
    • Matalonga, Leslie;
    • Gort, Laura;
    • Ferrer, Isidre;
    • Guitart‐Mampel, Mariona;
    • Garrabou, Glòria;
    • Vaz, Frederick M;
    • Pristoupilova, Ana;
    • Rodríguez, María Isabel Esteban;
    • Beltran, Sergi;
    • Cardellach, Francesc;
    • Wanders, Ronald JA;
    • Fillat, Cristina;
    • García‐Silva, María Teresa
    Publication type:
    Article
    3

    Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

    Published in:
    Human Mutation, 2017, v. 38, n. 2, p. 148, doi. 10.1002/humu.23145
    By:
    • Matalonga, Leslie;
    • Bravo, Miren;
    • Serra‐Peinado, Carla;
    • García‐Pelegrí, Elisabeth;
    • Ugarteburu, Olatz;
    • Vidal, Silvia;
    • Llambrich, Maria;
    • Quintana, Ester;
    • Fuster‐Jorge, Pedro;
    • Gonzalez‐Bravo, Maria Nieves;
    • Beltran, Sergi;
    • Dopazo, Joaquin;
    • Garcia‐Garcia, Francisco;
    • Foulquier, François;
    • Matthijs, Gert;
    • Mills, Philippa;
    • Ribes, Antonia;
    • Egea, Gustavo;
    • Briones, Paz;
    • Tort, Frederic
    Publication type:
    Article
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    The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery.

    Published in:
    Human Mutation, 2015, v. 36, n. 10, p. 915, doi. 10.1002/humu.22858
    By:
    • Philippakis, Anthony A.;
    • Azzariti, Danielle R.;
    • Beltran, Sergi;
    • Brookes, Anthony J.;
    • Brownstein, Catherine A.;
    • Brudno, Michael;
    • Brunner, Han G.;
    • Buske, Orion J.;
    • Carey, Knox;
    • Doll, Cassie;
    • Dumitriu, Sergiu;
    • Dyke, Stephanie O.M.;
    • den Dunnen, Johan T.;
    • Firth, Helen V.;
    • Gibbs, Richard A.;
    • Girdea, Marta;
    • Gonzalez, Michael;
    • Haendel, Melissa A.;
    • Hamosh, Ada;
    • Holm, Ingrid A.
    Publication type:
    Article
    6

    Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia.

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37389-7
    By:
    • González-Rincón, Julia;
    • Gómez, Sagrario;
    • Martinez, Nerea;
    • Troulé, Kevin;
    • Perales-Patón, Javier;
    • Derdak, Sophia;
    • Beltrán, Sergi;
    • Fernández-Cuevas, Belén;
    • Pérez-Sanz, Nuria;
    • Nova-Gurumeta, Sara;
    • Gut, Ivo;
    • Al-Shahrour, Fátima;
    • Piris, Miguel A.;
    • García-Marco, José A.;
    • Sánchez-Beato, Margarita
    Publication type:
    Article
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    8

    Characterization of the Common Genetic Variation in the Spanish Population of Navarre.

    Published in:
    Genes, 2024, v. 15, n. 5, p. 585, doi. 10.3390/genes15050585
    By:
    • Maillo, Alberto;
    • Huergo, Estefania;
    • Apellániz-Ruiz, María;
    • Urrutia-Lafuente, Edurne;
    • Miranda, María;
    • Salgado, Josefa;
    • Pasalodos-Sanchez, Sara;
    • Delgado-Mora, Luna;
    • Teijido, Óscar;
    • Goicoechea, Ibai;
    • Carmona, Rosario;
    • Perez-Florido, Javier;
    • Aquino, Virginia;
    • Lopez-Lopez, Daniel;
    • Peña-Chilet, María;
    • Beltran, Sergi;
    • Dopazo, Joaquín;
    • Lasa, Iñigo;
    • Beloqui, Juan José;
    • Alonso, Ángel
    Publication type:
    Article
    9
    10

    Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

    Published in:
    Nature Genetics, 2013, v. 45, n. 12, p. 1464, doi. 10.1038/ng.2799
    By:
    • Balbás-Martínez, Cristina;
    • Sagrera, Ana;
    • Carrillo-de-Santa-Pau, Enrique;
    • Earl, Julie;
    • Márquez, Mirari;
    • Vazquez, Miguel;
    • Lapi, Eleonora;
    • Castro-Giner, Francesc;
    • Beltran, Sergi;
    • Bayés, Mònica;
    • Carrato, Alfredo;
    • Cigudosa, Juan C;
    • Domínguez, Orlando;
    • Gut, Marta;
    • Herranz, Jesús;
    • Juanpere, Núria;
    • Kogevinas, Manolis;
    • Langa, Xavier;
    • López-Knowles, Elena;
    • Lorente, José A
    Publication type:
    Article
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    Deep RNA Sequencing of the Skeletal Muscle Transcriptome in Swimming Fish.

    Published in:
    PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053171
    By:
    • Palstra, Arjan P.;
    • Beltran, Sergi;
    • Burgerhout, Erik;
    • Brittijn, Sebastiaan A.;
    • Magnoni, Leonardo J.;
    • Henkel, Christiaan V.;
    • Jansen, Hans J.;
    • den Thillart, Guido E. E. J. M. van;
    • Spaink, Herman P.;
    • Planas, Josep V.
    Publication type:
    Article
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    Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.

    Published in:
    Cerebellum, 2024, v. 23, n. 2, p. 391, doi. 10.1007/s12311-023-01537-1
    By:
    • Beijer, Danique;
    • Fogel, Brent L.;
    • Beltran, Sergi;
    • Danzi, Matt C.;
    • Németh, Andrea H.;
    • Züchner, Stephan;
    • Synofzik, Matthis;
    • AGI Ataxia NGS genomics, platforms Working Group;
    • Adarmes, Astrid;
    • Alhusaini, Saud;
    • Ashrafi, Mahmoud Reza;
    • Bataller, Luis;
    • Bertini, Enrico;
    • Boesch, Sylvia;
    • Buijsen, Ronald;
    • Cassou, Emanuel;
    • Chan, Edwin;
    • Damásio, Joana;
    • Donis, Karina;
    • Elert-Dobkowska, Ewelina
    Publication type:
    Article
    17

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

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-39874-0
    By:
    • 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
    Publication type:
    Article
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    Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1594, doi. 10.1002/ajmg.a.38707
    By:
    • Owen, David;
    • Töpf, Ana;
    • Preethish‐Kumar, Veeramani;
    • Lorenzoni, Paulo José;
    • Vroling, Bas;
    • Scola, Rosana Herminia;
    • Dias‐Tosta, Elza;
    • Geraldo, Argemiro;
    • Polavarapu, Kiran;
    • Nashi, Saraswati;
    • Cox, Daniel;
    • Evangelista, Teresinha;
    • Dawson, John;
    • Thompson, Rachel;
    • Senderek, Jan;
    • Laurie, Steven;
    • Beltran, Sergi;
    • Gut, Marta;
    • Gut, Ivo;
    • Nalini, Atchayaram
    Publication type:
    Article
    20

    Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

    Published in:
    Molecular Vision, 2020, v. 26, p. 216
    By:
    • García-García, Gema;
    • Sanchez-Navarro, Iker;
    • Aller, Elena;
    • Jaijo, Teresa;
    • Fuster-Garcia, Carla;
    • Rodríguez-Munoz, Ana;
    • Vallejo, Elena;
    • José Tellería, Juan;
    • Vázquez, Selma;
    • Beltrán, Sergi;
    • Derdak, Sophia;
    • Zurita, Olga;
    • Villaverde-Montero, Cristina;
    • Avila-Fernández, Almudena;
    • Corton, Marta;
    • Blanco-Kelly, Fiona;
    • Hakonarson, Hakon;
    • Millán, José M.;
    • Ayuso, Carmen
    Publication type:
    Article
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    Framework for quality assessment of whole genome cancer sequences.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18688-y
    By:
    • Whalley, Justin P.;
    • Buchhalter, Ivo;
    • Rheinbay, Esther;
    • Raine, Keiran M.;
    • Stobbe, Miranda D.;
    • Kleinheinz, Kortine;
    • Werner, Johannes;
    • Beltran, Sergi;
    • Gut, Marta;
    • Hübschmann, Daniel;
    • Hutter, Barbara;
    • Livitz, Dimitri;
    • Perry, Marc D.;
    • Rosenberg, Mara;
    • Saksena, Gordon;
    • Trotta, Jean-Rémi;
    • Eils, Roland;
    • Gerhard, Daniela S.;
    • Campbell, Peter J.;
    • Schlesner, Matthias
    Publication type:
    Article
    25

    Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer.

    Published in:
    Cancers, 2019, v. 11, n. 3, p. 362, doi. 10.3390/cancers11030362
    By:
    • Díaz-Gay, Marcos;
    • Franch-Expósito, Sebastià;
    • Arnau-Collell, Coral;
    • Park, Solip;
    • Supek, Fran;
    • Muñoz, Jenifer;
    • Bonjoch, Laia;
    • Gratacós-Mulleras, Anna;
    • Sánchez-Rojas, Paula A.;
    • Esteban-Jurado, Clara;
    • Ocaña, Teresa;
    • Cuatrecasas, Miriam;
    • Vila-Casadesús, Maria;
    • Lozano, Juan José;
    • Parra, Genis;
    • Laurie, Steve;
    • Beltran, Sergi;
    • Castells, Antoni;
    • Bujanda, Luis;
    • Cubiella, Joaquín
    Publication type:
    Article
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    Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 647, doi. 10.3233/JND-230216
    By:
    • Estévez-Arias, Berta;
    • Matalonga, Leslie;
    • Martorell, Loreto;
    • Codina, Anna;
    • Ortez, Carlos;
    • Carrera-García, Laura;
    • Expósito-Escudero, Jessica;
    • Yubero, Delia;
    • Hoenicka, Janet;
    • Jou, Cristina;
    • Palau, Francesc;
    • Beltran, Sergi;
    • Lochmüller, Hanns;
    • Töpf, Ana;
    • Nascimento, Andrés;
    • Natera-de Benito, Daniel
    Publication type:
    Article
    33

    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45099-0
    By:
    • Núñez-Carpintero, Iker;
    • Rigau, Maria;
    • Bosio, Mattia;
    • O’Connor, Emily;
    • Spendiff, Sally;
    • Azuma, Yoshiteru;
    • Topf, Ana;
    • Thompson, Rachel;
    • ’t Hoen, Peter A. C.;
    • Chamova, Teodora;
    • Tournev, Ivailo;
    • Guergueltcheva, Velina;
    • Laurie, Steven;
    • Beltran, Sergi;
    • Capella-Gutiérrez, Salvador;
    • Cirillo, Davide;
    • Lochmüller, Hanns;
    • Valencia, Alfonso
    Publication type:
    Article
    34

    TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03692-6
    By:
    • Saier, Christina;
    • Sansen, Stefaan;
    • Berghout, Joanne;
    • Freyler, Kathrin;
    • Einhorn, Moshe;
    • Einhorn, Yaron;
    • Matalonga, Leslie;
    • Beltran, Sergi;
    • Novelli, Antonio;
    • Selvatici, Rita;
    • Fortunato, Fernanda;
    • Montanari, Silvia;
    • Martinez-Fresno, Maria;
    • Gumus, Gulcin;
    • Agolini, Emanuele;
    • Garnier, Nicolas;
    • Ferlini, Alessandra;
    • Bertini, Enrico;
    • Kirschner, Janbernd
    Publication type:
    Article
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    Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00436-6
    By:
    • Demidov, German;
    • Yaldiz, Burcu;
    • Garcia-Pelaez, José;
    • de Boer, Elke;
    • Schuermans, Nika;
    • Van de Vondel, Liedewei;
    • Paramonov, Ida;
    • Johansson, Lennart F.;
    • Musacchia, Francesco;
    • Benetti, Elisa;
    • Bullich, Gemma;
    • Sablauskas, Karolis;
    • Beltran, Sergi;
    • Gilissen, Christian;
    • Hoischen, Alexander;
    • Ossowski, Stephan;
    • de Voer, Richarda;
    • Lohmann, Katja;
    • Oliveira, Carla;
    • Topf, Ana
    Publication type:
    Article
    37

    The GA4GH Phenopacket schema defines a computable representation of clinical data.

    Published in:
    2022
    By:
    • Jacobsen, Julius O. B.;
    • Baudis, Michael;
    • Baynam, Gareth S.;
    • Beckmann, Jacques S.;
    • Beltran, Sergi;
    • Buske, Orion J.;
    • Callahan, Tiffany J.;
    • Chute, Christopher G.;
    • Courtot, Mélanie;
    • Danis, Daniel;
    • Elemento, Olivier;
    • Essenwanger, Andrea;
    • Freimuth, Robert R.;
    • Gargano, Michael A.;
    • Groza, Tudor;
    • Hamosh, Ada;
    • Harris, Nomi L.;
    • Kaliyaperumal, Rajaram;
    • Lloyd, Kevin C. Kent;
    • Khalifa, Aly
    Publication type:
    Letter
    38

    Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package.

    Published in:
    Epigenetics, 2023, v. 18, n. 1, p. 1, doi. 10.1080/15592294.2023.2230670
    By:
    • Ruiz-Arenas, Carlos;
    • Abarrategui, Leire;
    • Hernandez-Ferrer, Carles;
    • Escribà-Montagut, Xavier;
    • Pelegrí-Sisó, Dolors;
    • Ryser-Welch, Patricia;
    • Vrijheid, Martine;
    • Bustamante, Mariona;
    • Grazuleviciene, Regina;
    • Lepeule, Johanna;
    • Mathai, Mathew;
    • Vafeiadi, Marina;
    • Beltran, Sergi;
    • Pérez-Jurado, Luis A.;
    • González, Juan R
    Publication type:
    Article
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