P. Fernández-San José

发表

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

I. Hernán, C. Ayuso, M. M. de Sousa Dias, 2015, Molecular vision.

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

R. Allikmets, M. Cortón, J. Zernant, 2013, Ophthalmology.

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2014, Investigative ophthalmology & visual science.

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa

J. Dopazo, F. García-García, M. Cortón, 2016, Scientific Reports.

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

E. Aller, J. Millán, C. Gilissen, 2016, Scientific Reports.

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2015, Investigative ophthalmology & visual science.

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

H. Hakonarson, Yiran Guo, Sijie He, 2014, Orphanet Journal of Rare Diseases.

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2017, Investigative ophthalmology & visual science.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

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

S. Bhattacharya, M. Cortón, C. Ayuso, 2013, BioMed research international.

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

H. Hakonarson, Yiran Guo, Jianguo Zhang, 2015, PloS one.

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2015, Acta ophthalmologica.

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

E. Aller, J. Millán, C. Gilissen, 2016, Scientific Reports.

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

J. Millán, M. Cortón, C. Ayuso, 2016, PloS one.