Rocío Sánchez-Alcudia

Author

Centre for Biomedical Network Research on Rare Diseases

Also Known As

Carmen Ramos, R. Sánchez-Alcudia, R. Sánchez‐Alcudia, Rocio Sanchez-Alcudia, Rocio Sánchez-Alcudia, Rocio Sánchez‐Alcudia, Rocío Sanchez-Alcudia, Rocío Sánchez-Alcudia

Publications

788

Citations

H-Index

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Universidad Autónoma de Madrid Instituto de Salud Carlos III Centro de Biología Molecular Severo Ochoa Centro de Investigación Biomédica en Red

About

Rocío Sánchez-Alcudia is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	273
2	Natural Sciences	3	3	103
3	Arts	1	1	21
4	Public Health	1	1	46
5	Biochemistry	1	1	14

Rocío Sánchez-Alcudia

Publications

608

Citations

H-Index

Page 1

	Year	Citations
Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNA Ana María Rincón, C. Aguado, Lourdes R. Desviat, The American Journal of Human Genetics MedicineGeneticsNatural SciencesRna SplicingMolecular Biology	2007	71
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa Raquel Pérez-Carro, Marta Cortón, Iker Sánchez‐Navarro, Scientific Reports	2016	62
Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients Patrícia José, Marta Cortón, Fiona Blanco‐Kelly, Investigative Ophthalmology & Visual Science	2015	51
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations Almudena Ávila‐Fernández, Raquel Pérez-Carro, Marta Cortón, Human Molecular Genetics	2015	51
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice Rocío Sánchez-Alcudia, Maria García‐Hoyos, Miguel Ángel López-Martínez, PLoS ONE Ocular DiseaseGeneticsGenetic EpidemiologyGynecologyDisease Gene Identification	2016	46
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia Lourdes R. Desviat, Rocío Sánchez-Alcudia, Belén Pérez, Molecular Genetics and Metabolism Pcca GenePropionic AcidemiaGenetic DisorderGeneticsGene Characterization	2009	38
Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant Luisa Arrabal, Libertad Teresa, Rocío Sánchez-Alcudia, Neurogenetics Genetic DisorderGeneticsGenotype–phenotype CorrelationsMolecular BiologyMolecular Genetics	2011	37
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. da Silva, Fiona Blanco‐Kelly, Scientific Reports	2018	33
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia Rocío Sánchez-Alcudia, Belén Pérez, Magdalena Ugarte, Human Mutation	2012	30
Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa Marta Cortón, Almudena Ávila‐Fernández, Laura Campello, Scientific Reports	2016	29

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