Genetic Testing for Rare Diseases by José M. Millán, Gema García-García

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Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype by Anna Esteve-Garcia, Estefania Cobos, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Pilar Barberán-Martínez, Pilar Barberán-Martínez, José M. Millán, José M. Millán, José M. Millán, José M. Millán, Gema García-García, Gema García-García, Gema García-García, Cinthia Aguilera

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Editorial: Inherited retinal dystrophies: a light at the end of the tunnel? by Brian D. Perkins, Glenn P. Lobo, Altaf A. Kondkar, Jose M. Millan

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in <i>SMN2</i> by Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina-Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José M. Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cuscó, Eduardo F. Tizzano

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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa by Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis

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