Rosa Riveiro-Alvarez

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 60 publications

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Journal: International journal of molecular sciences

Published: February 01, 2024

Methylation analysis by targeted bisulfite sequencing in large for gestational age (LGA) newborns: the LARGAN cohort.

Methylation analysis by targeted bisulfite sequencing in large for gestational age (LGA) newborns: the LARGAN cohort.

Journal: Clinical epigenetics

Published: June 23, 2023

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

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

Journal: American journal of ophthalmology

Published: January 27, 2023

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Journal: International journal of molecular sciences

Published: June 23, 2022

Five years' experience of the clinical exome sequencing in a Spanish single center.

Five years' experience of the clinical exome sequencing in a Spanish single center.

Journal: Scientific reports

Published: May 19, 2022

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

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

Journal: Investigative ophthalmology & visual science

Published: February 04, 2022

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.

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.

Journal: Genes

Published: July 30, 2021

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.

Journal: NPJ genomic medicine

Published: July 23, 2021

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

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

Journal: Scientific reports

Published: May 11, 2021

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

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

Journal: Experimental eye research

Published: April 26, 2021

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

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

Journal: Scientific reports

Published: October 28, 2020

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

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

Journal: NPJ genomic medicine

Published: July 21, 2020

Showing 1-12 of 60

Last Updated: 09/26/2026