Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing by de Castro-Miró, Marta, Tonda, Raul, Escudero-Ferruz, Paula, Andrés, Rosa, Mayor-Lorenzo, Andrés, Castro, Joaquín, Ciccioli, Marcela, Hidalgo, Daniel A, Rodríguez-Ezcurra, Juan José, Farrando, Jorge, Pérez-Santonja, Juan J, Cormand, Bru, Marfany, Gemma, Gonzàlez-Duarte, Roser

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Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants by Toulis, Vasileios, Cortés-González, Vianney, Castro-Miró, Marta de, Sallum, Juliana Ferraz, Català-Mora, Jaume, Villanueva-Mendoza, Cristina, Ciccioli, Marcela, Gonzàlez-Duarte, Roser, Valero, Rebeca, Marfany, Gemma

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Unexpected complexity in the molecular diagnosis of spastic paraplegia 11 by Mademont‐Soler, Irene, Esteba‐Castillo, Susanna, Jiménez‐Xifra, Aida, Alemany, Berta, Ribas‐Vidal, Núria, Cutillas, Maria, Coll, Mònica, Pinsach, Mel·lina, Pagans, Sara, Alcalde, Mireia, Viñas‐Jornet, Marina, Montero‐Vale, Mercedes, Castro‐Miró, Marta, Rodríguez, Jairo, Armengol, Lluís, Queralt, Xavier, Obón, María

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The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes by Villanueva-Mendoza, Cristina, Tuson, Miquel, Apam-Garduño, David, de Castro-Miró, Marta, Tonda, Raul, Trotta, Jean Remi, Marfany, Gemma, Valero, Rebeca, Cortés-González, Vianney, Gonzàlez-Duarte, Roser

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A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype by Littink, Karin W, Pott, Jan-Willem R, Collin, Rob W J, Kroes, Hester Y, Verheij, Joke B G M, Blokland, Ellen A W, de Castro Miró, Marta, Hoyng, Carel B, Klaver, Caroline C W, Koenekoop, Robert K, Rohrschneider, Klaus, Cremers, Frans P M, van den Born, L Ingeborgh, den Hollander, Anneke I

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High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population by Collin, Rob W J, van den Born, L Ingeborgh, Klevering, B Jeroen, de Castro-Miró, Marta, Littink, Karin W, Arimadyo, Kentar, Azam, Maleeha, Yazar, Volkan, Zonneveld, Marijke N, Paun, Codrut C, Siemiatkowska, Anna M, Strom, Tim M, Hehir-Kwa, Jayne Y, Kroes, Hester Y, de Faber, Jan-Tjeerd H N, van Schooneveld, Mary J, Heckenlively, John R, Hoyng, Carel B, den Hollander, Anneke I, Cremers, Frans P M

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High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse by Garanto, Alejandro, Riera, Marina, Pomares, Esther, Permanyer, Jon, de Castro-Miró, Marta, Sava, Florentina, Abril, Josep F, Marfany, Gemma, Gonzàlez-Duarte, Roser

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Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies by de Castro-Miró, Marta, Pomares, Esther, Lorés-Motta, Laura, Tonda, Raul, Dopazo, Joaquín, Marfany, Gemma, Gonzàlez-Duarte, Roser

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Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1 by Valero, Rebeca, de Castro-Miró, Marta, Jiménez-Ochoa, Sofía, Rodríguez-Ezcurra, Juan José, Marfany, Gemma, Gonzàlez-Duarte, Roser

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Novel candidate genes and a wide spetrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing by Castro Miró, Marta de, Tonda, Raul, Escudero Ferruz, Paula, Andrés, Rosa, Mayor Lorenzo, Andres, Castro, Joaquín, Ciccioli, Marcela, Hidalgo, Daniel A, Rodríguez Ezcurra, Juan José, Farrando, Jorge, Pérez Santonja, Juan J, Cormand Rifà, Bru, Marfany i Nadal, Gemma, Gonzàlez-Duarte, Roser

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Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping by Siemiatkowska, Anna M, Arimadyo, Kentar, Moruz, Luminita M, Astuti, Galuh D N, de Castro-Miro, Marta, Zonneveld, Marijke N, Strom, Tim M, de Wijs, Ilse J, Hoefsloot, Lies H, Faradz, Sultana M H, Cremers, Frans P M, den Hollander, Anneke I, Collin, Rob W J

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Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies: e88410 by Castro-Miro, Marta de, Pomares, Esther, Lores-Motta, Laura, Tonda, Raul, Dopazo, Joaquin, Marfany, Gemma, Gonzalez-Duarte, Roser

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