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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Lipid Oxidation at the Crossroads: Oxidative Stress and Neurodegeneration Explored in <i>Caenorhabditis elegans</i> by Julia Tortajada-Pérez, Andrea del Valle Carranza, Cristina Trujillo-del Río, Mar Collado-Pérez, José María Millán, Gema García-García, Rafael Pascual Vázquez-Manrique

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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 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

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Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model by Javier Poyatos-García, Patricia Soblechero-Martín, Alessandro Liquori, Andrea López-Martínez, Pilar Maestre, Elisa González-Romero, Rafael P. Vázquez-Manrique, Nuria Muelas, Gema García-García, Jessica Ohana, Virginia Arechavala-Gomeza, Juan J. Vílchez

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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

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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

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Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome by Belén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, Teresa Jaijo, Pablo Mínguez, Cristina Rodilla, Lidia Fernández-Caballero, Fiona Blanco-Kelly, Carmen Ayuso, Alba Sanchis-Juan, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Gema García-García, José M. Millán

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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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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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