Ionut-Florin Iancu

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 160 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix

Juan‐Manuel Bonet‐Fernández, José‐Daniel Aroca‐Aguilar, Marta Cortón et al. · Human Genetics · 2020 · 47 citations · Full text

Medicine, Ophthalmology, Vision Science +14

Genotype–Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants

Marta Del Pozo‐Valero, Rosa Riveiro-Álvarez, Fiona Blanco‐Kelly et al. · American Journal of Ophthalmology · 2020 · 34 citations · Full text

Life Sciences, Genetics, Ophthalmology +17

Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies

Ionut-Florin Iancu, Almudena Ávila‐Fernández, Ana Arteche‐López et al. · npj Genomic Medicine · 2021 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases

Irene Perea‐Romero, Fiona Blanco‐Kelly, Iker Sánchez‐Navarro et al. · Human Genetics · 2021 · 24 citations · Full text

Medicine, Bioinformatics, Molecular Genetics +14