O. Zurita

发表

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

H. Hakonarson, L. Tian, M. Cortón, 2018, Scientific Reports.

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2019, 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.

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

H. Hakonarson, E. Aller, J. Millán, 2020, Molecular vision.

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.

Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys.

J. Arenas, C. Ayuso, Maria Inmaculada Martin-Merida, 2019, Stem cell research.

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

H. Hakonarson, M. Cortón, C. Ayuso, 2018, Scientific Reports.

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

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

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

Silvio Alessandro Di Gioia, C. Rivolta, M. Cortón, 2015, 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.

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.

RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 44 affected patients.

M. Cortón, C. Ayuso, B. Jimenez-Rolando, 2021, medRxiv.

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

C. Rivolta, M. Cortón, C. Ayuso, 2016, PloS one.

Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion.

T. Akçay, Á. Campos-Barros, K. Heath, 2013, European journal of medical genetics.

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2018, Investigative ophthalmology & visual science.

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

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

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2018, Investigative ophthalmology & visual science.

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort

M. Cortón, B. Jimenez-Rolando, A. Avila-Fernandez, 2024, International journal of molecular sciences.