Rocío Sánchez-Alcudia

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

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu, Marta Del Pozo‐Valero et autres

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu, Marta Del Pozo‐Valero et autres

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish …

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

Ángel Aledo‐Serrano, Rocío Sánchez-Alcudia, Rafael Toledano, Irene García‐Morales et autres

The redefinition of classical electroclinical syndromes and the emergence of neurogenetics has led to a revolution in the field of developmental and epileptic encephalopathies (DEEs). In this context, advances in genetic techniques are leading to the final diagnosis of a large proportion …

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

Nejla Erkilic, Vincent Gâtinois, Simona Torriano, Pauline Bouret et autres

Induced pluripotent stem cells (iPSCs) have revolutionized the study of human diseases as they can renew indefinitely, undergo multi-lineage differentiation, and generate disease-specific models. However, the difficulty of working with iPSCs is that they are prone to genetic instability. Furthermore, genetically unstable …

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Hereditary primary lateral sclerosis and progressive nonfluent aphasia

José Gazulla, Isidró Ferrer, Silvia Izquierdo Álvarez, Sara Álvarez et autres

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

Iker Sánchez‐Navarro, Luciana R. J. Silva, Fiona Blanco‐Kelly, Olga Rosa Brito Zurita et autres

Inherited syndromic retinopathies are a highly heterogeneous group of diseases that involve retinal anomalies and systemic manifestations. They include retinal ciliopathies, other well-defined clinical syndromes presenting with retinal alterations and cases of non-specific multisystemic diseases. The heterogeneity of these conditions makes molecular …

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

Inmaculada Martín-Mérida, Rocío Sánchez-Alcudia, Patricia Fernández-San Jose, Fiona Blanco‐Kelly et autres

Purpose: The aim was to determine the prevalence of PRPF31 mutations in a cohort of Spanish autosomal dominant retinitis pigmentosa (adRP) families to deepen knowledge of the pathogenic mechanisms underlying the disease and to assess genotype-phenotype correlations. Methods: A cohort of 211 …

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

Marta Cortón, Laura Campello, Mayka Sánchez, Bruce Williamson Benavides et autres

Retinitis pigmentosa (RP), the most frequent form of inherited retinal dystrophy is characterized by progressive photoreceptor degeneration. Many genes have been implicated in RP development, but several others remain to be identified. Using a combination of homozygosity mapping, whole-exome and targeted next-generation …

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Whole Genome Sequencing identifies a structural variant in the EYS gene in retinitis pigmentosa patients.

Katarina Cisarova, Nicola Bedoni, Rocío Sánchez-Alcudia, Béryl Royer‐Bertrand et autres

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

Raquel Pérez-Carro, Marta Cortón, Iker Sánchez‐Navarro, Olga Rosa Brito Zurita et autres

Scientific Reports 6: Article number: 19531; published online: 25 January 2016; updated: 22 April 2016 This Article contains errors. In Table 1, for Family RP-1929 the nucleotide change ‘c.9079dupA’ and protein change ‘p.Arg3027Lysfs*9’ were incorrectly given as ‘c.9142dupA’ and ‘p.Arg3048Lysfs*9’ respectively.

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

Rocío Sánchez-Alcudia, Maria García‐Hoyos, Miguel Ángel López-Martínez, Noelia Sanchez-Bolivar et autres

Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the CHM gene encoding REP-1 protein, an essential component of the Rab geranylgeranyltransferase (GGTase) complex. In the present study, we …

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

Raquel Pérez-Carro, Marta Cortón, Iker Sánchez‐Navarro, Olga Rosa Brito Zurita et autres

Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) characterized by photoreceptor degeneration. RP is highly heterogeneous both clinically and genetically, which complicates the identification of causative genes and mutations. Targeted next-generation sequencing (NGS) has been demonstrated to be …

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