Publications by authors named "Inmaculada Martin-Merida"

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-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño

Int J Mol Sci· March 2024

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Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Cristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, María José Trujillo-Tiebas, Almudena Avila-Fernandez

Am J Ophthalmol· October 2023

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Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.
Natalia Lorenzana-Blanco, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Inmaculada Martin-Merida

Eur J Ophthalmol· November 2022

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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, Iker Sanchez-Navarro, Brais Bea-Mascato, Inmaculada Martin-Merida

NPJ Genom Med· July 2022

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Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Ionut-Florin Iancu, Irene Perea-Romero, Gonzalo Núñez-Moreno, Lorena de la Fuente, Raquel Romero

Int J Mol Sci· July 2022

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Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Inmaculada Martin-Merida, Fiona Blanco-Kelly, Saoud Swafiri

Invest Ophthalmol Vis Sci· February 2022

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An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
Raquel Romero, Lorena de la Fuente, Marta Del Pozo-Valero, Rosa Riveiro-Álvarez, María José Trujillo-Tiebas

NPJ Genom Med· January 2022

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RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Rosario Lopez-Rodriguez, Esther Lantero, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Inmaculada Martin Merida

Exp Eye Res· November 2021

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Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.
Fahimeh Beigi, Marta Del Pozo-Valero, Inmaculada Martin-Merida, Masoud Reza Manaviat, Carmen Ayuso

Exp Eye Res· October 2021

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Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease.
Fahimeh Beigi, Marta Del Pozo-Valero, Inmaculada Martin-Merida, Irene Perea-Romero, Masoud Reza Manaviat

Exp Eye Res· June 2021

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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 F Iancu, Marta Del Pozo-Valero, Berta Almoguera, Inmaculada Martin-Merida

Sci Rep· May 2021

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Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Ionut-Florin Iancu, Almudena Avila-Fernandez, Ana Arteche, Maria Jose Trujillo-Tiebas, Rosa Riveiro-Alvarez, Inmaculada Martin-Merida

NPJ Genom Med· February 2021

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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 F Iancu, Marta Del Pozo-Valero, Berta Almoguera, Inmaculada Martin-Merida

Sci Rep· January 2021

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Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Fiona Blanco-Kelly, Jana Aguirre-Lamban, Inmaculada Martin-Merida

Am J Ophthalmol· November 2020

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Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the gene.
Fahimeh Beigi, Marta Del Pozo-Valero, Inmaculada Martin-Merida, Mohammad Yahya Vahidi Mehrjardi, Masoud Reza Manaviat

Ophthalmic Genet· February 2020

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Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
Marta Del Pozo-Valero, Inmaculada Martin-Merida, Belen Jimenez-Rolando, Ana Arteche, Almudena Avila-Fernandez

Am J Ophthalmol· November 2019

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Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Inmaculada Martin-Merida, Almudena Avila-Fernandez, Marta Del Pozo-Valero, Fiona Blanco-Kelly, Olga Zurita

Ophthalmology· August 2019

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Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller

PLoS One· December 2018

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Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Inmaculada Martin-Merida, Domingo Aguilera-Garcia, Jose P Fernandez-San, Fiona Blanco-Kelly, Olga Zurita

Invest Ophthalmol Vis Sci· May 2018

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Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
Inmaculada Martin-Merida, Rocio Sanchez-Alcudia, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Raquel Perez-Carro

Invest Ophthalmol Vis Sci· February 2017

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