Concepedia

Esther Pomares

EP

16

Publications

554

Citations

16

H-Index

2004

Active since

Affiliations

Universitat de Barcelona(Current)

Instituto de Microcirugía Ocular

Instituto de Salud Carlos III

Centre for Biomedical Network Research on Rare Diseases

Hospital Universitario Central de Asturias

Esther Pomares is an author at Universitat de Barcelona specializing in medicine, molecular genetics, and genetics.

ORCID

Top concepts

Publications per year

2004–2023

16

Publications

16

Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in<i>PROM1</i>

Jon Permanyer, Rafael Navarro, James S. Friedman et al. · Investigative Ophthalmology & Visual Science · 2010 · 82 citations · Full text

Functional Implications of the Presenilin Dimerization

Sara Cervantes, Carlos A. Saura, Esther Pomares et al. · Journal of Biological Chemistry · 2004 · 59 citations · Full text

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Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies

Marina Riera, Rafael Navarro, Sheila Ruiz‐Nogales et al. · Scientific Reports · 2017 · 54 citations · Full text

Nonsense-Mediated Decay as the Molecular Cause for Autosomal Recessive Bestrophinopathy in Two Unrelated Families

Esther Pomares, Anniken Burés‐Jelstrup, Sheila Ruiz‐Nogales et al. · Investigative Ophthalmology & Visual Science · 2011 · 37 citations

Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies

Marta de Castro‐Miró, Esther Pomares, Laura Lorés‐Motta et al. · PLoS ONE · 2014 · 36 citations · Full text

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