Works by Pérez de la Fuente, Rubén

Results: 5
    1

    Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 6, p. 646, doi. 10.1111/cge.14701
    By:
    • Trujillano, Laura;
    • Valenzuela, Irene;
    • Costa‐Roger, Mar;
    • Cuscó, Ivon;
    • Fernandez‐Alvarez, Paula;
    • Cueto‐González, Anna;
    • Lasa‐Aranzasti, Amaia;
    • Masotto, Bárbara;
    • Abulí, Anna;
    • Codina‐Solà, Marta;
    • del Campo, Miguel;
    • Ruiz Moreno, Juan Antonio;
    • Pardo Domínguez, Cristina;
    • Palma Milla, Carmen;
    • Pérez de la Fuente, Rubén;
    • Quesada‐Espinosa, Juan Francisco;
    • Núñez‐Enamorado, Noemí;
    • Gener, Blanca;
    • Ballesta‐Martínez, María Juliana;
    • Brea‐Fernández, Alejandro J.
    Publication type:
    Article
    2

    New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 2, p. 236, doi. 10.1111/cge.14249
    By:
    • Arteche‐López, Ana;
    • Avila‐Fernandez, Almudena;
    • Damian, Alejandra;
    • Soengas‐Gonda, Emma;
    • de la Fuente, Rubén Pérez;
    • Gómez, Patricia Ramos;
    • Merlo, Jesús Gallego;
    • Burgos, Laura Horcajada;
    • Fernández, Carlos Cemillán;
    • Rosales, Jose Miguel Lezana;
    • Martínez, Juan Francisco González;
    • Quesada‐Espinosa, Juan Francisco;
    • Corton, Marta;
    • Guerrero‐Molina, Maria Paz
    Publication type:
    Article
    3

    Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

    Published in:
    Genes, 2021, v. 12, n. 4, p. 560, doi. 10.3390/genes12040560
    By:
    • Arteche-López, Ana;
    • Gómez Rodríguez, Maria José;
    • Sánchez Calvin, Maria Teresa;
    • Quesada-Espinosa, Juan Francisco;
    • Lezana Rosales, Jose Miguel;
    • Palma Milla, Carmen;
    • Gómez-Manjón, Irene;
    • Hidalgo Mayoral, Irene;
    • Pérez de la Fuente, Rubén;
    • Díaz de Bustamante, Arancha;
    • Darnaude, María Teresa;
    • Gil-Fournier, Belén;
    • Ramiro León, Soraya;
    • Ramos Gómez, Patricia;
    • Sierra Tomillo, Olalla;
    • Juárez Rufián, Alexandra;
    • Arranz Cano, Maria Isabel;
    • Villares Alonso, Rebeca;
    • Morales-Pérez, Pablo;
    • Segura-Tudela, Alejandro
    Publication type:
    Article
    4

    First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

    Published in:
    Neurogenetics, 2021, v. 22, n. 4, p. 343, doi. 10.1007/s10048-021-00660-7
    By:
    • Quesada-Espinosa, Juan F.;
    • Garzón-Lorenzo, Lucía;
    • Lezana-Rosales, José M.;
    • Gómez-Rodríguez, María J.;
    • Sánchez-Calvin, María T.;
    • Palma-Milla, Carmen;
    • Gómez-Manjón, Irene;
    • Hidalgo-Mayoral, Irene;
    • Pérez de la Fuente, Rubén;
    • Arteche-López, Ana;
    • Álvarez-Mora, María I.;
    • Camacho-Salas, Ana;
    • Cruz-Rojo, Jaime;
    • Lázaro-Rodríguez, Irene;
    • Morales-Conejo, Montserrat;
    • Nuñez-Enamorado, Noemí;
    • Bustamante-Aragones, Ana;
    • Simón de las Heras, Rogelio;
    • Gomez-Cano, María A.;
    • Ramos-Gómez, Patricia
    Publication type:
    Article
    5

    Exploring genotype–phenotype correlations in glutaric aciduria type 1.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 371, doi. 10.1002/jimd.12608
    By:
    • Schuurmans, Imke M. E.;
    • Dimitrov, Bianca;
    • Schröter, Julian;
    • Ribes, Antonia;
    • de la Fuente, Rubén Pérez;
    • Zamora, Berta;
    • van Karnebeek, Clara D. M.;
    • Kölker, Stefan;
    • Garanto, Alejandro
    Publication type:
    Article