Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies von Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, de la Fuente, Lorena, Romero, Raquel, Ávila-Fernandez, Almudena, Trujillo-Tiebas, María José, Riveiro-Álvarez, Rosa, Almoguera, Berta, Martín-Mérida, Inmaculada, Del Pozo-Valero, Marta, Damián-Verde, Alejandra, Cortón, Marta, Ayuso, Carmen, Minguez, Pablo

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Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies von Iancu, Ionut-Florin, Avila-Fernandez, Almudena, Arteche, Ana, Trujillo-Tiebas, Maria Jose, Riveiro-Alvarez, Rosa, Almoguera, Berta, Martin-Merida, Inmaculada, Del Pozo-Valero, Marta, Perea-Romero, Irene, Corton, Marta, Minguez, Pablo, Ayuso, Carmen

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An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases von Romero, Raquel, de la Fuente, Lorena, Del Pozo-Valero, Marta, Riveiro-Álvarez, Rosa, Trujillo-Tiebas, María José, Martín-Mérida, Inmaculada, Ávila-Fernández, Almudena, Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, Damián, Alejandra, Rodilla, Cristina, Almoguera, Berta, Cortón, Marta, Ayuso, Carmen, Mínguez, Pablo

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Genotype–Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants von Del Pozo-Valero, Marta, Riveiro-Alvarez, Rosa, Blanco-Kelly, Fiona, Aguirre-Lamban, Jana, Martin-Merida, Inmaculada, Iancu, Ionut-Florin, Swafiri, Saoud, Lorda-Sanchez, Isabel, Rodriguez-Pinilla, Elvira, Trujillo-Tiebas, Maria José, Jimenez-Rolando, Belen, Carreño, Ester, Mahillo-Fernandez, Ignacio, Rivolta, Carlo, Corton, Marta, Avila-Fernandez, Almudena, Garcia-Sandoval, Blanca, Ayuso, Carmen

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Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies von Rodilla, Cristina, Martín-Merida, Inmaculada, Blanco-Kelly, Fiona, Trujillo-Tiebas, María José, Avila-Fernandez, Almudena, Riveiro-Alvarez, Rosa, del Pozo-Valero, Marta, Perea-Romero, Irene, Swafiri, Saoud Tahsin, Zurita, Olga, Villaverde, Cristina, López, Miguel Ángel, Romero, Raquel, Iancu, Ionut Florin, Núñez-Moreno, Gonzalo, Jiménez-Rolando, Belén, Martin-Gutierrez, María Pilar, Carreño, Ester, Minguez, Pablo, García-Sandoval, Blanca, Ayuso, Carmen, Corton, Marta

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Genotype–Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA 4 Pathogenic Variants von Marta Del Pozo-Valero, Riveiro-Alvarez, Rosa, Blanco-Kelly, Fiona, Aguirre-Lamban, Jana, Martin-Merida, Inmaculada, Ionut-Florin Iancu, Saoud Swafiri, Lorda-Sanchez, Isabel, Rodriguez-Pinilla, Elvira, Trujillo-Tiebas, Maria José, Jimenez-Rolando, Belen, Carreño, Ester, Mahillo-Fernandez, Ignacio, Rivolta, Carlo, Corton, Marta, Avila-Fernandez, Almudena, Garcia-Sandoval, Blanca, Ayuso, Carmen

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