Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci by D'haene, Eva, López-Soriano, Víctor, Martínez-García, Pedro Manuel, Kalayanamontri, Soraya, Rey, Alfredo Dueñas, Sousa-Ortega, Ana, Naranjo, Silvia, Van de Sompele, Stijn, Vantomme, Lies, Mahieu, Quinten, Vergult, Sarah, Neto, Ana, Gómez-Skarmeta, José Luis, Martínez-Morales, Juan Ramón, Bauwens, Miriam, Tena, Juan Jesús, De Baere, Elfride

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Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease by Dueñas Rey, Alfredo, Del Pozo Valero, Marta, Bouckaert, Manon, Wood, Katherine A, Van den Broeck, Filip, Daich Varela, Malena, Thomas, Huw B, Van Heetvelde, Mattias, De Bruyne, Marieke, Van de Sompele, Stijn, Bauwens, Miriam, Lenaerts, Hanne, Mahieu, Quinten, Josifova, Dragana, Rivolta, Carlo, O'Keefe, Raymond T, Ellingford, Jamie, Webster, Andrew R, Arno, Gavin, Ayuso, Carmen, De Zaeytijd, Julie, Leroy, Bart P, De Baere, Elfride, Coppieters, Frauke

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Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform by Del Pozo‐Valero, Marta, Almoallem, Basamat, Dueñas Rey, Alfredo, Mahieu, Quinten, Van Heetvelde, Mattias, Jeddawi, Laila, Bauwens, Miriam, De Baere, Elfride

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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction by Bauwens, Miriam, Celik, Elifnaz, Zur, Dinah, Lin, Siying, Quinodoz, Mathieu, Michaelides, Michel, Webster, Andrew R., Van Den Broeck, Filip, Leroy, Bart P., Rizel, Leah, Moye, Abigail R., Meunier, Audrey, Tran, Hoai Viet, Moulin, Alexandre P., Mahieu, Quinten, Van Heetvelde, Mattias, Arno, Gavin, Rivolta, Carlo, De Baere, Elfride, Ben-Yosef, Tamar

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