Rosa Riveiro-Alvarez

Affiliations

Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.

Publications (10)

Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.

American journal of ophthalmology

Avec: Marta Del Pozo-Valero , Rosa Riveiro-Alvarez , Fiona Blanco-Kelly , Jana Aguirre-Lamban , Inmaculada Martin-Merida , Ionut-Florin Iancu , Saoud Swafiri , Isabel Lorda-Sanchez , Elvira Rodriguez-Pinilla , Maria José Trujillo-Tiebas , Belen Jimenez-Rolando , Ester Carreño , Ignacio Mahillo-Fernandez , Carlo Rivolta , Marta Corton , Almudena Avila-Fernandez , Blanca Garcia-Sandoval , Carmen Ayuso

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

Ophthalmology

Avec: Inmaculada Martin-Merida , Almudena Avila-Fernandez , Marta Del Pozo-Valero , Fiona Blanco-Kelly , Olga Zurita , Raquel Perez-Carro , Domingo Aguilera-Garcia , Rosa Riveiro-Alvarez , Ana Arteche , Maria Jose Trujillo-Tiebas , Saoud Tahsin-Swafiri , Elvira Rodriguez-Pinilla , Isabel Lorda-Sanchez , Blanca Garcia-Sandoval , Marta Corton , Carmen Ayuso

RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.

Experimental eye research

Avec: Rosario Lopez-Rodriguez , Esther Lantero , Fiona Blanco-Kelly , Almudena Avila-Fernandez , Inmaculada Martin Merida , Marta Del Pozo-Valero , Irene Perea-Romero , Olga Zurita , Belén Jiménez-Rolando , Saoud Tahsin Swafiri , Rosa Riveiro-Alvarez , María José Trujillo-Tiebas , Ester Carreño Salas , Blanca García-Sandoval , Marta Corton , Carmen Ayuso

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative ophthalmology & visual science

Avec: Marta Del Pozo-Valero , Rosa Riveiro-Alvarez , Inmaculada Martin-Merida , Fiona Blanco-Kelly , Saoud Swafiri , Isabel Lorda-Sanchez , Maria José Trujillo-Tiebas , Ester Carreño , Belen Jimenez-Rolando , Blanca Garcia-Sandoval , Marta Corton , Almudena Avila-Fernandez , Carmen Ayuso

Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.

American journal of ophthalmology

Avec: Marta Del Pozo-Valero , Inmaculada Martin-Merida , Belen Jimenez-Rolando , Ana Arteche , Almudena Avila-Fernandez , Fiona Blanco-Kelly , Rosa Riveiro-Alvarez , Caroline Van Cauwenbergh , Elfride De Baere , Carlo Rivolta , Blanca Garcia-Sandoval , Marta Corton , Carmen Ayuso

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.

NPJ genomic medicine

Avec: Francisco Martinez-Granero , Fiona Blanco-Kelly , Carolina Sanchez-Jimeno , Almudena Avila-Fernandez , Ana Arteche , Ana Bustamante-Aragones , Cristina Rodilla , Elvira Rodríguez-Pinilla , Rosa Riveiro-Alvarez , Saoud Tahsin-Swafiri , Maria Jose Trujillo-Tiebas , Carmen Ayuso , Marta Rodríguez de Alba , Isabel Lorda-Sanchez , Berta Almoguera

Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.

NPJ genomic medicine

Avec: Ionut-Florin Iancu , Almudena Avila-Fernandez , Ana Arteche , Maria Jose Trujillo-Tiebas , Rosa Riveiro-Alvarez , Berta Almoguera , Inmaculada Martin-Merida , Marta Del Pozo-Valero , Irene Perea-Romero , Marta Corton , Pablo Minguez , Carmen Ayuso

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.

Genes

Avec: Carolina Sanchez-Jimeno , Fiona Blanco-Kelly , Fermina López-Grondona , Rebeca Losada-Del Pozo , Beatriz Moreno , María Rodrigo-Moreno , Elena Martinez-Cayuelas , Rosa Riveiro-Alvarez , María Fenollar-Cortés , Carmen Ayuso , Marta Rodríguez de Alba , Isabel Lorda-Sanchez , Berta Almoguera

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

Scientific reports

Avec: Irene Perea-Romero , Gema Gordo , Ionut F Iancu , Marta Del Pozo-Valero , Berta Almoguera , Fiona Blanco-Kelly , Ester Carreño , Belen Jimenez-Rolando , Rosario Lopez-Rodriguez , Isabel Lorda-Sanchez , Inmaculada Martin-Merida , Lucia Pérez de Ayala , Rosa Riveiro-Alvarez , Elvira Rodriguez-Pinilla , Saoud Tahsin-Swafiri , Maria J Trujillo-Tiebas , Auteur inconnu , Auteur inconnu , Auteur inconnu , Blanca Garcia-Sandoval , Pablo Minguez , Almudena Avila-Fernandez , Marta Corton , Carmen Ayuso

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

American journal of ophthalmology

Avec: Cristina Rodilla , Inmaculada Martín-Merida , Fiona Blanco-Kelly , María José Trujillo-Tiebas , Almudena Avila-Fernandez , Rosa Riveiro-Alvarez , Marta Del Pozo-Valero , Irene Perea-Romero , Saoud Tahsin Swafiri , Olga Zurita , Cristina Villaverde , Miguel Ángel López , Raquel Romero , Ionut Florin Iancu , Gonzalo Núñez-Moreno , Belén Jiménez-Rolando , María Pilar Martin-Gutierrez , Ester Carreño , Pablo Minguez , Blanca García-Sandoval , Carmen Ayuso , Marta Corton

Réseau de co-auteurs

Carmen Ayuso 10 collaborations

Fiona Blanco-Kelly 9 collaborations

Almudena Avila-Fernandez 9 collaborations

Marta Del Pozo-Valero 8 collaborations

Marta Corton 8 collaborations

Inmaculada Martin-Merida 6 collaborations

Isabel Lorda-Sanchez 6 collaborations

Blanca Garcia-Sandoval 5 collaborations

Belen Jimenez-Rolando 4 collaborations

Ester Carreño 4 collaborations

Ana Arteche 4 collaborations

Irene Perea-Romero 4 collaborations

Berta Almoguera 4 collaborations

Elvira Rodriguez-Pinilla 3 collaborations

Olga Zurita 3 collaborations

Maria Jose Trujillo-Tiebas 3 collaborations

Saoud Tahsin-Swafiri 3 collaborations

Pablo Minguez 3 collaborations

None None 3 collaborations

Ionut-Florin Iancu 2 collaborations

Saoud Swafiri 2 collaborations

Maria José Trujillo-Tiebas 2 collaborations

Carlo Rivolta 2 collaborations

Rosario Lopez-Rodriguez 2 collaborations

Belén Jiménez-Rolando 2 collaborations

Saoud Tahsin Swafiri 2 collaborations

María José Trujillo-Tiebas 2 collaborations

Blanca García-Sandoval 2 collaborations

Carolina Sanchez-Jimeno 2 collaborations

Cristina Rodilla 2 collaborations

Marta Rodríguez de Alba 2 collaborations

Jana Aguirre-Lamban 1 collaboration

Ignacio Mahillo-Fernandez 1 collaboration

Raquel Perez-Carro 1 collaboration

Domingo Aguilera-Garcia 1 collaboration

Esther Lantero 1 collaboration

Inmaculada Martin Merida 1 collaboration

Ester Carreño Salas 1 collaboration

Caroline Van Cauwenbergh 1 collaboration

Elfride De Baere 1 collaboration

Francisco Martinez-Granero 1 collaboration

Ana Bustamante-Aragones 1 collaboration

Elvira Rodríguez-Pinilla 1 collaboration

Fermina López-Grondona 1 collaboration

Rebeca Losada-Del Pozo 1 collaboration

Beatriz Moreno 1 collaboration

María Rodrigo-Moreno 1 collaboration

Elena Martinez-Cayuelas 1 collaboration

María Fenollar-Cortés 1 collaboration

Gema Gordo 1 collaboration

Ionut F Iancu 1 collaboration

Lucia Pérez de Ayala 1 collaboration

Maria J Trujillo-Tiebas 1 collaboration

Inmaculada Martín-Merida 1 collaboration

Cristina Villaverde 1 collaboration

Miguel Ángel López 1 collaboration

Raquel Romero 1 collaboration

Ionut Florin Iancu 1 collaboration

Gonzalo Núñez-Moreno 1 collaboration

María Pilar Martin-Gutierrez 1 collaboration