ESR1 - TIGEM
Karla Alejandra
Ruiz-Ceja
Identification of the gene networks that modulate ABCA4 expression
ESR2 - CSIC
Soraya Kalayanamontri
Interaction map of cis-regulatory elements controlling ABCA4 in human retina
ESR3 - UGent
Víctor López Soriano
Mapping the cis-regulatory landscape of ABCA4 in adult human retina
ESR4 - UGent
Munevver Burcu Cicekdal
Functional assessment of a cis-regulatory element of ABCA4 in a frog model
ESR5 - RUMC
Zelia Corradi
Identification and splice assays of deep-intronix ABCA4 variants in mono-allelic STGD1
ESR6 - UNIVLEEDS
Ben McClinton
Long-read sequencing of the ABCA4 locus
ESR7 - UGent
Alfredo Dueñas Rey
Identification and characterisation of structural variants and non-coding sequence variants of ABCA4
ESR8 - NewCells
Avril Watson
ABCA4 transcript analysis of retinal cells derived from mono-allelic STGD1 cases
ESR9 - RMUC
Nuria Suárez Herrera
Antisense oligonucleotide-based splice modulation for deep-intronic mutations in ABCA4
ESR10 - ProQR
Melita Kaltak
Optimisation, delivery and tolerability of antisense oligonucleotides to treat STGD1 patients with the most common splice mutation in ABCA4
ESR11 - TIGEM
Eugenio Pugni
ABCA4 knockout pig as model for gene therapy in STGD1
ESR12 - EKUT
 Pietro De Angeli
CRISPR/Cas9 gene editing for excision and rescue of deep-intronic mutations in ABCA4
ESR13 - TCD
Iris Post
AAV vector delivery targeting common pathways of disease in STGD1
ESR14 - UCL
​Davide Piccolo
Pharmacological protein folding manipulation of ABCA4 mutations