Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant by Strubbe, Ine, Van Cauwenbergh, Caroline, De Zaeytijd, Julie, De Jaegere, Sarah, De Bruyne, Marieke, Rosseel, Toon, Van de Sompele, Stijn, De Baere, Elfride, Leroy, Bart P.

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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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A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1) by Small, Kent W, Van de Sompele, Stijn, Nuytemans, Karen, Vincent, Andrea, Yuregir, Ozge Ozalp, Ciloglu, Emine, Sariyildiz, Cahfer, Rosseel, Toon, Avetisjan, Jessica, Udar, Nitin, Vance, Jeffery M, Pericak-Vance, Margaret A, De Baere, Elfride, Shaya, Fadi S

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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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Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy by Van de Sompele, Stijn, Small, Kent W., Cicekdal, Munevver Burcu, Soriano, Víctor López, D’haene, Eva, Shaya, Fadi S., Agemy, Steven, Van der Snickt, Thijs, Rey, Alfredo Dueñas, Rosseel, Toon, Van Heetvelde, Mattias, Vergult, Sarah, Balikova, Irina, Bergen, Arthur A., Boon, Camiel J.F., De Zaeytijd, Julie, Inglehearn, Chris F., Kousal, Bohdan, Leroy, Bart P., Rivolta, Carlo, Vaclavik, Veronika, van den Ende, Jenneke, van Schooneveld, Mary J., Gómez-Skarmeta, José Luis, Tena, Juan J., Martinez-Morales, Juan R., Liskova, Petra, Vleminckx, Kris, De Baere, Elfride

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Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants by Bauwens, Miriam, De Man, Vincent, Audo, Isabelle, Balikova, Irina, Zein, Wadih M., Smirnov, Vasily, Held, Sebastian, Vermeer, Sascha, Loos, Elke, Jacob, Julie, Casteels, Ingele, Désir, Julie, Depasse, Fanny, Van de Sompele, Stijn, Van Heetvelde, Mattias, De Bruyne, Marieke, Andrieu, Camille, Condroyer, Christel, Antonio, Aline, Hufnagel, Robert, Carvalho, Ana Luísa, Marques, João Pedro, Zeitz, Christina, De Baere, Elfride, Damme, Markus

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Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome... by Van de Sompele, Stijn, Pécheux, Lucie, Couso, Jorge, Meunier, Audrey, Sanchez, Mayka, De Baere, Elfride

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New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot by Small, Kent W., Van de Sompele, Stijn, Avetisjan, Jessica, Udar, Nitin, Agemy, Steven, De Baere, Elfride, Shaya, Fadi S.

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