Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Molecular Therapy. Nucleic Acids
Khan, Mubeen M; Arno, Gavin G; Fakin, Ana A; Parfitt, David A DA; Dhooge, Patty P A PPA; Albert, Silvia S; Bax, Nathalie M NM; Duijkers, Lonneke L; Niblock, Michael M; Hau, Kwan L KL; Bloch, Edward E; Schiff, Elena R ER; Piccolo, Davide D; Hogden, Michael C MC; Hoyng, Carel B CB; Webster, Andrew R AR; Cremers, Frans P M FPM; Cheetham, Michael E ME; Garanto, Alejandro A; Collin, Rob W J RWJ