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

An Update on the Genetics of Usher Syndrome

by José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso
Published 2011-01-01

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

Prevalent <i>ALMS1</i> Pathogenic Variants in Spanish Alström Patients

by Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M. Millán, Carmen Ayuso, Diana Valverde
Published 2021-02-01

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

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

A genetic basis for mechanosensory traits in humans.

by Henning Frenzel, Jörg Bohlender, Katrin Pinsker, Bärbel Wohlleben, Jens Tank, Stefan G Lechner, Daniela Schiska, Teresa Jaijo, Franz Rüschendorf, Kathrin Saar, Jens Jordan, José M Millán, Manfred Gross, Gary R Lewin
Published 2012-01-01

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

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.

by Fiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, Maria Isabel Lopez-Molina, Rosa Riveiro-Alvarez, Patricia Fernandez-San Jose, Almudena Avila-Fernandez, Marta Corton, Jose M Millan, Blanca García Sandoval, Carmen Ayuso
Published 2016-01-01

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

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

by Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V Cervera, Jose M Millan, Laia Pedrola
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

miRNAs and Genes Involved in the Interplay between Ocular Hypertension and Primary Open-Angle Glaucoma. Oxidative Stress, Inflammation, and Apoptosis Networks

by Jorge Raga-Cervera, Jose M. Bolarin, Jose M. Millan, Jose J. Garcia-Medina, Laia Pedrola, Javier Abellán-Abenza, Mar Valero-Vello, Silvia M. Sanz-González, José E. O’Connor, David Galarreta-Mira, Elena Bendala-Tufanisco, Aloma Mayordomo-Febrer, Maria D. Pinazo-Durán, Vicente Zanón-Moreno
Published 2021-05-01