Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies

by Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, José M. Millán, Gema García-García
Published 2020-04-01

Patrón de Brugada tipo II desencadenado por fiebre secundaria a una pielonefritis aguda por Enterobacter aerogenes.

by Gema García García, Sara González García, Dolores Magro Ledesma, Ana Martínez Naharro, Carlos Aranda López
Published 2013-03-01

Genetic Screening of the Usher Syndrome in Cuba

by Elayne E. Santana, Carla Fuster-García, Carla Fuster-García, Elena Aller, Elena Aller, Teresa Jaijo, Teresa Jaijo, Belén García-Bohórquez, Gema García-García, Gema García-García, José M. Millán, José M. Millán, Araceli Lantigua
Published 2019-05-01

Updating the Genetic Landscape of Inherited Retinal Dystrophies

by Belén García Bohórquez, Belén García Bohórquez, Elena Aller, Elena Aller, Elena Aller, Ana Rodríguez Muñoz, Ana Rodríguez Muñoz, Teresa Jaijo, Teresa Jaijo, Teresa Jaijo, Gema García García, Gema García García, José M. Millán, José M. Millán
Published 2021-07-01

Usher Syndrome: Genetics of a Human Ciliopathy

by Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, José M. Millán, Gema García-García
Published 2021-06-01

Experience of targeted Usher exome sequencing as a clinical test

by Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, Jose M. Millan, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux
Published 2014-01-01

USH2A Gene Editing Using the CRISPR System

by Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D. Sequedo, Carmen Ayuso, Rafael P. Vázquez-Manrique, José M. Millán, Elena Aller
Published 2017-09-01

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

by Christel Vaché, Jacques Puechberty, Valérie Faugère, Floriane Darmaisin, Alessandro Liquori, David Baux, Catherine Blanchet, Catherine Blanchet, Gema Garcia-Garcia, Isabelle Meunier, Franck Pellestor, Michel Koenig, Anne-Françoise Roux
Published 2020-07-01

Analysis of the Ush2a gene in medaka fish (Oryzias latipes).

by Elena Aller, Ana V Sánchez-Sánchez, Javier U Chicote, Gema García-García, Patricia Udaondo, Laura Cavallé, Marina Piquer-Gil, Antonio García-España, Manuel Díaz-Llopis, José M Millán, José L Mullor
Published 2013-01-01

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice

by Gema García-García, Alba Berzal-Serrano, Piedad García-Díaz, Rebeca Villanova-Aparisi, Sara Juárez-Rodríguez, Carlos de Paula-Vernetta, Laura Cavallé-Garrido, Teresa Jaijo, Miguel Armengot-Carceller, José M Millán, Elena Aller
Published 2020-12-01

Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

by María José Aparisi, Gema García-García, Elena Aller, María Dolores Sequedo, Cristina Martínez-Fernández de la Cámara, Regina Rodrigo, Miguel Armengot, Julio Cortijo, Javier Milara, Manuel Díaz-LLopis, Teresa Jaijo, José María Millán
Published 2013-01-01

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

by Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso
Published 2018-01-01

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

by Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk
Published 2016-01-01