Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. by María González-del Pozo, Cristina Méndez-Vidal, Nereida Bravo-Gil, Alicia Vela-Boza, Joaquin Dopazo, Salud Borrego, Guillermo Antiñolo

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Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants by María González-del Pozo, Elena Fernández-Suárez, Marta Martín-Sánchez, Nereida Bravo-Gil, Cristina Méndez-Vidal, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo

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Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene by Elena Fernández-Suárez, María González-del Pozo, Cristina Méndez-Vidal, Marta Martín-Sánchez, Marcela Mena, Belén de la Morena-Barrio, Javier Corral, Salud Borrego, Guillermo Antiñolo

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Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant by Elena Fernández-Suárez, Elena Fernández-Suárez, María González-del Pozo, María González-del Pozo, Alejandro García-Núñez, Cristina Méndez-Vidal, Cristina Méndez-Vidal, Marta Martín-Sánchez, Marta Martín-Sánchez, José Manuel Mejías-Carrasco, Manuel Ramos-Jiménez, María José Morillo-Sánchez, Enrique Rodríguez-de la Rúa, Enrique Rodríguez-de la Rúa, Salud Borrego, Salud Borrego, Guillermo Antiñolo, Guillermo Antiñolo

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A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice by Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo

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