R. Sánchez‐Alcudia

发表

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.

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 Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

C. Ayuso, J. Puechberty, C. Hamel, 2019, Cells.

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.

Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man

M. Ugarte, B. Thöny, J. Häberle, 2015, PloS one.

Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2011, Molecular genetics and metabolism.

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.

Developmental and epileptic encephalopathies after negative or inconclusive genetic testing: what is next?

R. Toledano, Álvaro Beltrán-Corbellini, A. Gil-Nagel, 2021, Journal of Translational Genetics and Genomics.

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.

M. Ugarte, B. Pérez, L. Desviat, 2007, American journal of human genetics.

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2011, neurogenetics.

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

J. Dopazo, F. García-García, M. Cortón, 2015, Human molecular genetics.

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia

M. Ugarte, B. Pérez, L. Desviat, 2012, Human mutation.

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

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

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

C. Pérez-Cerdá, M. Wajner, B. Merinero, 2010, Journal of Inherited Metabolic Disease.

Hereditary primary lateral sclerosis and progressive nonfluent aphasia

I. Ferrer, J. Berciano, J. Gazulla, 2019, Journal of Neurology.

Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2014, Clinical genetics.

Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type

R. Banerjee, E. Richard, B. Merinero, 2010, Human mutation.

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2009, Molecular genetics and metabolism.

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

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

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.