Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
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
Published in Genome medicine (06.01.2024)
Published in Genome medicine (06.01.2024)
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Journal Article
Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci
Lopez Soriano, Victor, Dueñas Rey, Alfredo, Mukherjee, Rajarshi, Coppieters, Frauke, Bauwens, Miriam, Willaert, Andy, De Baere, Elfride
Published in Nature communications (10.05.2024)
Published in Nature communications (10.05.2024)
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Journal Article
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
Del Pozo‐Valero, Marta, Almoallem, Basamat, Dueñas Rey, Alfredo, Mahieu, Quinten, Van Heetvelde, Mattias, Jeddawi, Laila, Bauwens, Miriam, De Baere, Elfride
Published in Clinical genetics (01.08.2024)
Published in Clinical genetics (01.08.2024)
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Journal Article
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci
Lopez Soriano, Victor, Dueñas Rey, Alfredo, Mukherjee, Rajarshi, Coppieters, Frauke, Bauwens, Miriam, Willaert, Andy, De Baere, Elfride
Published in Nature communications (21.02.2024)
Published in Nature communications (21.02.2024)
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Journal Article
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Mechaussier, Sabrina, Almoallem, Basamat, Zeitz, Christina, Van Schil, Kristof, Jeddawi, Laila, Van Dorpe, Jo, Dueñas Rey, Alfredo, Condroyer, Christel, Pelle, Olivier, Polak, Michel, Boddaert, Nathalie, Bahi-Buisson, Nadia, Cavallin, Mara, Bacquet, Jean-Louis, Mouallem-Bézière, Alexandra, Zambrowski, Olivia, Sahel, José Alain, Audo, Isabelle, Kaplan, Josseline, Rozet, Jean-Michel, De Baere, Elfride, Perrault, Isabelle
Published in American journal of human genetics (04.06.2020)
Published in American journal of human genetics (04.06.2020)
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Journal Article
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci
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
Published in Genome Biology (17.05.2024)
Published in Genome Biology (17.05.2024)
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Journal Article
Nigral transcriptomic profiles in Engrailed-1 hemizygous mouse models of Parkinson's disease reveal upregulation of oxidative phosphorylation-related genes associated with delayed dopaminergic neurodegeneration
Belfiori, Lautaro Francisco, Dueñas Rey, Alfredo, Ralbovszki, Dorottya Mária, Jimenez-Ferrer, Itzia, Fredlund, Filip, Balikai, Sagar Shivayogi, Ahrén, Dag, Brolin, Kajsa Atterling, Swanberg, Maria
Published in Frontiers in aging neuroscience (05.02.2024)
Published in Frontiers in aging neuroscience (05.02.2024)
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Journal Article
A proteogenomic atlas of the human neural retina
Riepe, Tabea V, Stemerdink, Merel, Salz, Renee, Rey, Alfredo Dueñas, de Bruijn, Suzanne E, Boonen, Erica, Tomkiewicz, Tomasz Z, Kwint, Michael, Gloerich, Jolein, Wessels, Hans J C T, Delanote, Emma, De Baere, Elfride, van Nieuwerburgh, Filip, De Keulenaer, Sarah, Ferrari, Barbara, Ferrari, Stefano, Coppieters, Frauke, Cremers, Frans P M, van Wyk, Erwin, Roosing, Susanne, de Vrieze, Erik, 't Hoen, Peter A C
Published in Frontiers in genetics (19.09.2024)
Published in Frontiers in genetics (19.09.2024)
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Journal Article
Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss
Ascari, Giulia, Rendtorff, Nanna D, De Bruyne, Marieke, De Zaeytijd, Julie, Van Lint, Michel, Bauwens, Miriam, Van Heetvelde, Mattias, Arno, Gavin, Jacob, Julie, Creytens, David, Van Dorpe, Jo, Van Laethem, Thalia, Rosseel, Toon, De Pooter, Tim, De Rijk, Peter, De Coster, Wouter, Menten, Björn, Rey, Alfredo Dueñas, Strazisar, Mojca, Bertelsen, Mette, Tranebjaerg, Lisbeth, De Baere, Elfride
Published in Frontiers in cell and developmental biology (21.04.2021)
Published in Frontiers in cell and developmental biology (21.04.2021)
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Journal Article
The MHC class II transactivator modulates seeded alpha-synuclein pathology and dopaminergic neurodegeneration in an in vivo rat model of Parkinson's disease
Jimenez-Ferrer, Itzia, Bäckström, Filip, Dueñas-Rey, Alfredo, Jewett, Michael, Boza-Serrano, Antonio, Luk, Kelvin C., Deierborg, Tomas, Swanberg, Maria
Published in Brain, behavior, and immunity (01.01.2021)
Published in Brain, behavior, and immunity (01.01.2021)
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Journal Article
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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
Published in American journal of human genetics (03.11.2022)
Published in American journal of human genetics (03.11.2022)
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Journal Article
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Mechaussier, Sabrina, Almoallem, Basamat, Zeitz, Christina, Van Schil, Kristof, Jeddawi, Laila, Van Dorpe, Jo, Rey, Alfredo Dueñas, Condroyer, Christel, Pelle, Olivier, Polak, Michel, Boddaert, Nathalie, Bahi-Buisson, Nadia, Cavallin, Mara, Bacquet, Jean-Louis, Mouallem-Bézière, Alexandra, Zambrowski, Olivia, Sahel, José Alain, Audo, Isabelle, Kaplan, Josseline, Rozet, Jean-Michel, De Baere, Elfride, Perrault, Isabelle
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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Journal Article
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis
Nuzhat, Nafisa, Van Schil, Kristof, Liakopoulos, Sandra, Bauwens, Miriam, Rey, Alfredo Dueñas, Käseberg, Stephan, Jäger, Melanie, Willer, Jason R, Winter, Jennifer, Truong, Hanh M, Gruartmoner, Nuria, Van Heetvelde, Mattias, Wolf, Joachim, Merget, Robert, Grasshoff-Derr, Sabine, Van Dorpe, Jo, Hoorens, Anne, Stöhr, Heidi, Mansard, Luke, Roux, Anne-Françoise, Langmann, Thomas, Dannhausen, Katharina, Rosenkranz, David, Wissing, Karl M, Van Lint, Michel, Rossmann, Heidi, Häuser, Friederike, Nürnberg, Peter, Thiele, Holger, Zechner, Ulrich, Pearring, Jillian N, De Baere, Elfride, Bolz, Hanno J
Published in The Journal of clinical investigation (17.04.2023)
Published in The Journal of clinical investigation (17.04.2023)
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Journal Article
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Van De Sompele, Stijn, Small, Kent W, Munevver Burcu Cicekdal, Víctor López Soriano, D'haene, Eva, Shaya, Fadi S, Agemy, Steve, Thijs Van Der Snickt, Alfredo Dueñas Rey, Rosseel, Toon, Mattias Van Heetvelde, 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, Jenneke Van Den Ende, Van Schooneveld, Mary J, Gómez-Skarmeta, José Luis, Tena, Juan J, Martinez-Morales, Juan R, Liskova, Petra, Vleminckx, Kris, Elfride De Baere
Published in bioRxiv (26.07.2022)
Published in bioRxiv (26.07.2022)
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