Raquel Pérez-Carro - Concepedia

Author

Raquel Pérez-Carro

Centre for Biomedical Network Research on Rare Diseases

Also Known As

Maria I. Lopez-Molina, Perez-Carro, Raquel, R. Pérez-Carro, R. Pérez‐Carro, Raquel Perez-Carro, Raquel Pérez-Carro

Publications

695

Citations

H-Index

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Instituto de Salud Carlos III Hospital Universitario Fundación Jiménez Díaz Universidad Autónoma de Madrid Universidade de Mogi das Cruzes

About

Raquel Pérez-Carro is an author at Centre for Biomedical Network Research on Rare Diseases specializing in genetics, medicine, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	182
2	Natural Sciences	1	1	14
3	Public Health	1	1	46
4	Biochemistry	1	1	14
5	Endocrinology	1	1	46

Raquel Pérez-Carro

Publications

527

Citations

H-Index

Page 1

	Year	Citations
Genomic Landscape of Sporadic Retinitis Pigmentosa Inmaculada Martín-Mérida, Almudena Ávila‐Fernández, Marta Del Pozo‐Valero, Ophthalmology MedicineGeneticsNext-generation SequencingGenome AnalysisMolecular Genetics	2019	67
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa Raquel Pérez-Carro, Marta Cortón, Iker Sánchez‐Navarro, Scientific Reports	2016	62
Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations Koji M. Nishiguchi, Almudena Ávila‐Fernández, Ramon A. C. van Huet, Ophthalmology Exome SequencingGeneticsMolecular GeneticsDisease Gene IdentificationMedicine	2014	55
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
New Mutations in the<i>RAB28</i>Gene in 2 Spanish Families With Cone-Rod Dystrophy Rosa Riveiro-Álvarez, Ya‐Jing Xie, Miguel-Ángel López-Martínez, JAMA Ophthalmology	2014	38
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
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
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy Konstantinos Nikopoulos, Almudena Ávila‐Fernández, Marta Cortón, Scientific Reports	2015	25

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