Publications by authors named "Ana Arteche"

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Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy.
Laura Llansó, Alba Segarra-Casas, Cristina Domínguez-González, Edoardo Malfatti, Solange Kapetanovic, Ana Arteche

Neurol Neuroimmunol Neuroinflamm· September 2024

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Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche

NPJ Genom Med· March 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

NPJ Genom Med· February 2021

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Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Celia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, Marta Corton, Ana Arteche

J Hum Genet· May 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, Ana Arteche

Ophthalmology· August 2019

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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, Ana Arteche

Invest Ophthalmol Vis Sci· May 2018

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