Noelia Sanchez-Bolivar

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.

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.

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.

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

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

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

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