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Esther Pomares

Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in PROM1
2010 · Jon Permanyer, Rafael Navarro, et al. · Investigative Ophthalmology & Visual Science · 72
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Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies
2017 · Marina Riera, Rafael Navarro, et al. · Scientific Reports · 60
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Functional Implications of the Presenilin Dimerization
2004 · Sara Cervantes, Carlos A. Saura, et al. · Journal of Biological Chemistry · 58
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Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa
2008 · A J Brea-Fernandez, E Pomares, et al. · British Journal of Ophthalmology · 38
Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies
2014 · Marta de Castro-Miró, Esther Pomares, et al. · PLoS ONE · 37
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Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4
2020 · Víctor Abad-Morales, Rafael Navarro, et al. · American Journal of Ophthalmology Case Reports · 35
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High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse
2011 · Alejandro Garanto, Marina Riera, et al. · Investigative Ophthalmology & Visual Science · 34
Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis
2007 · Esther Pomares, Gemma Marfany, et al. · Human Mutation · 34
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Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients
2023 · Laura Siles, Sheila Ruiz-Nogales, et al. · Molecular Therapy — Nucleic Acids · 33
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Nonsense-Mediated Decay as the Molecular Cause for Autosomal Recessive Bestrophinopathy in Two Unrelated Families
2011 · Esther Pomares, Anniken Burés-Jelstrup, et al. · Investigative Ophthalmology & Visual Science · 33
Panel‐based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns
2017 · Marina Riera, Ana Wert, et al. · Molecular Genetics & Genomic Medicine · 26
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Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects
2009 · Esther Pomares, Marina Riera, et al. · European Journal of Human Genetics · 25
Identification of an Intronic Single-Point Mutation in RP2 as the Cause of Semidominant X-linked Retinitis Pigmentosa
2009 · Esther Pomares, Marina Riera, et al. · Investigative Ophthalmology & Visual Science · 24
Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy
2019 · Marina Riera, Víctor Abad-Morales, et al. · British Journal of Ophthalmology · 23
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype
2013 · Isabelle Perrault, Alejandro Estrada-Cuzcano, et al. · PLoS ONE · 21
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Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations
2019 · Marina Riera, Achchhe Patel, et al. · Stem Cell Research · 16
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Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report
2020 · Víctor Abad-Morales, Miriam Barbany, et al. · Cornea · 10
Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations
2019 · Víctor Abad-Morales, Anniken Burés-Jelstrup, et al. · Experimental Eye Research · 10
Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene
2019 · Marina Riera, Achchhe Patel, et al. · Stem Cell Research · 10
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Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations
2019 · Marina Riera, Achchhe Patel, et al. · Stem Cell Research · 10
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High-Efficiency CRISPR/Cas9-Mediated Correction of a Homozygous Mutation in Achromatopsia-Patient-Derived iPSCs
2023 · Laura Siles, Paula Gaudó, et al. · International Journal of Molecular Sciences · 9
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Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation
2022 · Arnau Navinés-Ferrer, Sheila Ruiz-Nogales, et al. · International Journal of Molecular Sciences · 9
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Endoplasmic reticulum stress and rhodopsin accumulation in an organoid model of Retinitis Pigmentosa carrying a RHO pathogenic variant
2025 · Arnau Navinés-Ferrer, Esther Pomares · Stem Cell Research & Therapy · 8
Rescue of the disease-associated phenotype in CRISPR-corrected hiPSCs as a therapeutic approach for inherited retinal dystrophies
2025 · Laura Siles, Esther Pomares · Molecular Therapy — Nucleic Acids · 7
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New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform
2021 · Víctor Abad-Morales, Ana Wert, et al. · International Journal of Molecular Sciences · 6
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Works count: 44
Citation count: 673
H-index: 16
I10-index: 20
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