Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

by Kamenarova, Kunka, Corton, Marta, García-Sandoval, Blanca, Fernández-San Jose, Patricia, Panchev, Valentin, Ávila-Fernández, Almudena, López-Molina, Maria Isabel, Chakarova, Christina, Ayuso, Carmen, Bhattacharya, Shomi S.
Published 2013

New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3′-UTR, deleting exon 5 of RHO, and causing adRP

by de Sousa Dias, Miguel, Hernan, Imma, Delás, Barbara, Pascual, Beatriz, Borràs, Emma, Gamundi, Maria José, Mañé, Begoña, Fernández-San José, Patricia, Ayuso, Carmen, Carballo, Miguel
Published 2015

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

by Blanco-Kelly, Fiona, García Hoyos, María, Lopez Martinez, Miguel Angel, Lopez-Molina, Maria Isabel, Riveiro-Alvarez, Rosa, Fernandez-San Jose, Patricia, Avila-Fernandez, Almudena, Corton, Marta, Millan, Jose M., García Sandoval, Blanca, Ayuso, Carmen
Published 2016

Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

by Perez-Carro, Raquel, Corton, Marta, Sánchez-Navarro, Iker, Zurita, Olga, Sanchez-Bolivar, Noelia, Sánchez-Alcudia, Rocío, Lelieveld, Stefan H., Aller, Elena, Lopez-Martinez, Miguel Angel, López-Molina, Mª Isabel, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Gilissen, Christian, Millan, Jose M, Avila-Fernandez, Almudena, Ayuso, Carmen
Published 2016

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

by Almoguera, Berta, Li, Jiankang, Fernandez-San Jose, Patricia, Liu, Yichuan, March, Michael, Pellegrino, Renata, Golhar, Ryan, Corton, Marta, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Zhang, Jianguo, Keating, Brendan, Xu, Xun, Hakonarson, Hakon, Ayuso, Carmen
Published 2015

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

by Perez-Carro, Raquel, Corton, Marta, Sánchez-Navarro, Iker, Zurita, Olga, Sanchez-Bolivar, Noelia, Sánchez-Alcudia, Rocío, Lelieveld, Stefan H., Aller, Elena, Lopez-Martinez, Miguel Angel, López-Molina, Mª Isabel, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Gilissen, Christian, Millan, Jose M, Avila-Fernandez, Almudena, Ayuso, Carmen
Published 2016

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

by Almoguera, Berta, He, Sijie, Corton, Marta, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, del Val, Javier, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Torres, Rosa J, Puig, Juan G, Hakonarson, Hakon, Xu, Xun, Keating, Brendan, Ayuso, Carmen
Published 2014