Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

enthalten in: NPJ genomic medicine | 2022

von Perea-Romero, I. | Solarat, C. | Blanco-Kelly, F. | +15

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

enthalten in: NPJ genomic medicine | 2022

von Romero, R. | de la Fuente, L. | Del Pozo-Valero, M. | +13

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

enthalten in: NPJ genomic medicine | 2021

von Iancu, I. | Avila-Fernandez, A. | Arteche, A. | +9