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Emma Borràs

Observed names: E Borràs, E. Borràs, Emma Borràs Angosto, Emma Borrás
ORCID: 0000-0002-8237-6380
Observed ORCID: 0000-0002-8237-6380
OpenAlex ID: A5025066108
Genetic polymorphism of alcohol dehydrogenase in europeans: The ADH2*2 allele decreases the risk for alcoholism and is associated with ADH3*1
2000 · Emma Borràs, Christiane Coutelle, et al. · Hepatology · 254
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Clinical pharmacogenomic testing of KRAS, BRAF and EGFRmutations by high resolution melting analysis and ultra-deep pyrosequencing
2011 · Emma Borràs, Ismael Jurado, et al. · BMC Cancer · 90
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Three-dimensional Structure and Enzymatic Function of Proapoptotic Human p53-inducible Quinone Oxidoreductase PIG3
2009 · Sergio Porté, Eva Valencia, et al. · Journal of Biological Chemistry · 69
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Detection of Genomic Variations in BRCA1 and BRCA2 Genes by Long-Range PCR and Next-Generation Sequencing
2012 · Imma Hernan, Emma Borràs, et al. · Journal of Molecular Diagnostics · 51
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Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
2013 · Elena Millá, Begoña Mañé, et al. · Europe PMC (PubMed Central) · 32
Toward a clinical practice guide in pharmacogenomics testing for functional polymorphisms of drug-metabolizing enzymes. Gene/drug pairs and barriers perceived in Spain
2012 · José A. G. Agúndez, Francisco Abad-Santos, et al. · Frontiers in Genetics · 25
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Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
2013 · Miguel de Sousa Dias, Imma Hernan, et al. · Europe PMC (PubMed Central) · 24
Cellular Expression and siRNA-Mediated Interference of Rhodopsin cis -Acting Splicing Mutants Associated with Autosomal Dominant Retinitis Pigmentosa
2011 · Imma Hernan, María José Gamundi, et al. · Investigative Ophthalmology & Visual Science · 22
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells
2024 · Maria A. Andrianova, Vladimir B. Seplyarskiy, et al. · European Journal of Human Genetics · 17
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Novel p.M96T variant of NRL and shRNA‐based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa
2011 · I Hernan, MJ Gamundi, et al. · Clinical Genetics · 17
High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity
2013 · Emma Borràs, Emma Dotor, et al. · Frontiers in Genetics · 15
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Detection of novel genetic variation in autosomal dominant retinitis pigmentosa
2013 · E Borràs, M de Sousa Dias, et al. · Clinical Genetics · 11
Synthesis of enantiopure C 3 - and C 4 -hydroxyretinals and their enzymatic reduction by ADH8 from Xenopus laevis
2005 · Marta Domínguez, Rosana Álvarez, et al. · Organic & Biomolecular Chemistry · 9
New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
2015 · Miguel de Sousa Dias, Imma Hernan, et al. · Europe PMC (PubMed Central) · 6
The Xenopusalcohol dehydrogenase gene family: characterization and comparative analysis incorporating amphibian and reptilian genomes
2014 · Emma Borràs, Ricard Albalat, et al. · BMC Genomics · 6
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Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma
2024 · Elena Milla, Javier Laguna, et al. · PLoS ONE · 5
Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer
2015 · I. Hernan, B. Mañé, et al. · Clinical & Translational Oncology · 3
Distribution of Alcohol Dehydrogenase in Human Organs
2001 · Xavier Parés, Susana Martínez, et al. · CRC Press eBooks · 3
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome
2024 · Vicken Totten, Gisela Teixido-Tura, et al. · Journal of Medical Genetics · 2
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
2024 · José M Moreno-Cabrera, Lidia Feliubadaló, et al. · Database · 1
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Corrigendum to ”Characterization and economic burden of KRASG12C-mutant lung cancer in real-world Spanish practice: a retrospective observational study (SILK study)” [Lung Cancer 206 (2025) 108677]
2025 · Noemí Reguart, Laura Sampietro-Colom, et al. · Lung Cancer
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Characterization and economic burden of KRASG12C-mutant lung cancer in real-world Spanish practice: a retrospective observational study (SILK study)
2025 · Noemí Reguart, Laura Sampietro-Colom, et al. · Lung Cancer
1410P Characterization of patients with advanced non-small-cell lung cancer (NSCLC) harboring KRASG12C mutation and their associated direct healthcare costs in Spanish routine clinical practice (SILK study)
2023 · N. Reguart Aransay, J. Sánchez, et al. · Annals of Oncology
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Estudios genéticos, estructurales y funcionales de la alcohol deshidrogenasa de vertebrados
2007 · Emma Borràs Angosto · Dialnet (Universidad de la Rioja)
Works count: 26
Citation count: 662
H-index: 11
I10-index: 12
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