Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4

by Víctor Abad-Morales, Rafael Navarro, Anniken Burés-Jelstrup, Esther Pomares
Published 2020-09-01

Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene

by Judit Domingo-Prim, Marina Riera, Anniken Burés-Jelstrup, Borja Corcostegui, Esther Pomares
Published 2019-07-01

Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations

by Marina Riera, Achchhe Patel, Anniken Burés-Jelstrup, Borja Corcostegui, Stanley Chang, Esther Pomares, Barbara Corneo, Janet R. Sparrow
Published 2019-04-01