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NPJ Genomic Medicine|July 14, 2022
Allelic overload and its clinical modifier effect in Bardet-Biedl syndromeIrene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, et al.Scientific Reports|January 26, 2016
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaRaquel Perez-Carro, Marta Corton, Iker Sánchez-Navarro, et al.The Journal of Allergy and Clinical Immunology|March 4, 2021
IL-6-based mortality prediction model for COVID-19: Validation and update in multicenter and second wave cohortsAlberto Utrero-Rico, Javier Ruiz-Hornillos, Cecilia González-Cuadrado, et al.Molecular Oncology|January 11, 2019
Molecular evidence of field cancerization initiated by diabetes in colon cancer patientsLaura Del Puerto-Nevado, Pablo Minguez, Marta Corton, et al.American Journal of Ophthalmology|July 4, 2020
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic VariantsMarta Del Pozo-Valero, Rosa Riveiro-Alvarez, Fiona Blanco-Kelly, et al.Ophthalmic Genetics|January 25, 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivityRichard Holt, David Goudie, Alejandra Damián Verde, et al.Plos One|April 13, 2016
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical PracticeRocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, et al.Journal of Medical Genetics|August 21, 2020
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosaGuillaume Olivier, Marta Corton, Daniela Intartaglia, et al.Oncotarget|January 7, 2017
2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implicationsNieves González, Isabel Prieto, Laura Del Puerto-Nevado, et al.Human Molecular Genetics|April 18, 2015
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsAlmudena Avila-Fernandez, Raquel Perez-Carro, Marta Corton, et al.Pageof 9