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Human Genomics|June 2, 2023
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia casesAlejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, et al.Plos One|February 24, 2017
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGHFiona Blanco-Kelly, María Palomares, Elena Vallespín, et al.Journal of Human Genetics|February 5, 2020
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesisCelia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, et al.Clinical Genetics|January 31, 2023
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case reportFrancisco Martínez-Granero, Elena Martínez-Cayuelas, Cristina Rodilla, et al.Ophthalmology and Therapy|March 26, 2025
Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical ManifestationsJonathan Hall, Marta Corton, Fabian Norbert Fries, et al.International Journal of Molecular Sciences|July 15, 2026
Integrated Analysis of mRNA and microRNA Expression in Corneal Impression Cytology Samples from Patients with PAX6-Related Congenital AniridiaShuailin Li, Tanja Stachon, Fabian Norbert Fries, et al.NPJ Genomic Medicine|February 24, 2021
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophiesIonut-Florin Iancu, Almudena Avila-Fernandez, Ana Arteche, et al.Current Eye Research|March 6, 2024
Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using in Vivo Confocal Laser Scanning MicroscopyAnita Csorba, Kitti Kormányos, Mária Csidey, et al.Investigative Ophthalmology & Visual Science|November 14, 2025
Applicability of Electroretinography Measurements in Congenital PAX6-Related AniridiaDitta Zobor, Krisztina Knézy, Barbara Besztercei, et al.Investigative Ophthalmology & Visual Science|May 31, 2018
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish FamiliesInmaculada Martin-Merida, Domingo Aguilera-Garcia, Jose P Fernandez-San, et al.Pageof 9