Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
Van Cauwenbergh, Caroline, Coppieters, Frauke, Roels, Dimitri, De Jaegere, Sarah, Flipts, Helena, De Zaeytijd, Julie, Walraedt, Sophie, Claes, Charlotte, Fransen, Erik, Van Camp, Guy, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Leroy, Bart P, De Baere, Elfride
Published in PloS one (11.01.2017)
Published in PloS one (11.01.2017)
Get full text
Journal Article
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
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.
Published in Scientific reports (08.01.2021)
Published in Scientific reports (08.01.2021)
Get full text
Journal Article
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
Bauwens, Miriam, Garanto, Alejandro, Sangermano, Riccardo, Naessens, Sarah, Weisschuh, Nicole, De Zaeytijd, Julie, Khan, Mubeen, Sadler, Françoise, Balikova, Irina, Van Cauwenbergh, Caroline, Rosseel, Toon, Bauwens, Jim, De Leeneer, Kim, De Jaegere, Sarah, Van Laethem, Thalia, De Vries, Meindert, Carss, Keren, Arno, Gavin, Fakin, Ana, Webster, Andrew R., de Ravel de l’Argentière, Thomy J. L., Sznajer, Yves, Vuylsteke, Marnik, Kohl, Susanne, Wissinger, Bernd, Cherry, Timothy, Collin, Rob W. J., Cremers, Frans P. M., Leroy, Bart P., De Baere, Elfride
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
Get full text
Journal Article
An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients
Bauwens, Miriam, De Zaeytijd, Julie, Weisschuh, Nicole, Kohl, Susanne, Meire, Françoise, Dahan, Karin, Depasse, Fanny, De Jaegere, Sarah, De Ravel, Thomy, De Rademaeker, Marjan, Loeys, Bart, Coppieters, Frauke, Leroy, Bart P., De Baere, Elfride
Published in Human mutation (01.01.2015)
Published in Human mutation (01.01.2015)
Get full text
Journal Article
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
Van Cauwenbergh, Caroline, Van Schil, Kristof, Cannoodt, Robrecht, Bauwens, Miriam, Van Laethem, Thalia, De Jaegere, Sarah, Steyaert, Wouter, Sante, Tom, Menten, Björn, Leroy, Bart P., Coppieters, Frauke, De Baere, Elfride
Published in Genetics in medicine (01.04.2017)
Published in Genetics in medicine (01.04.2017)
Get full text
Journal Article
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn, Carron, Marjolein, Aslanidis, Alexander, Van Cauwenbergh, Caroline, Mayer, Anja K, Van Heetvelde, Mattias, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Greenberg, Michael E, Yang, Marty G, Karlstetter, Marcus, Langmann, Thomas, De Preter, Katleen, Kohl, Susanne, Cherry, Timothy J, Leroy, Bart P, De Baere, Elfride
Published in Genetics in medicine (01.02.2018)
Published in Genetics in medicine (01.02.2018)
Get full text
Journal Article
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
Bauwens, Miriam, Storch, Stephan, Weisschuh, Nicole, Ceuterick‐de Groote, Chantal, De Rycke, Riet, Guillemyn, Brecht, De Jaegere, Sarah, Coppieters, Frauke, Van Coster, Rudy, Leroy, Bart P., De Baere, Elfride
Published in Clinical genetics (01.03.2020)
Published in Clinical genetics (01.03.2020)
Get full text
Journal Article
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
Coppieters, Frauke, Casteels, Ingele, Meire, Françoise, De Jaegere, Sarah, Hooghe, Sally, van Regemorter, Nicole, Van Esch, Hilde, Matulevičienė, Aušra, Nunes, Luis, Meersschaut, Valérie, Walraedt, Sophie, Standaert, Lieve, Coucke, Paul, Hoeben, Heidi, Kroes, Hester Y, Vande Walle, Johan, de Ravel, Thomy, Leroy, Bart P, De Baere, Elfride
Published in Human mutation (01.10.2010)
Published in Human mutation (01.10.2010)
Get full text
Journal Article
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility
Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A., Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriële, Krysko, Olga, Van Laethem, Thalia, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Van Dorpe, Jo, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, Walraedt, Sophie, Bischoff, Almut, Pedersen, Lotte B., Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart P., De Baere, Elfride, Coppieters, Frauke
Published in Human mutation (01.05.2020)
Published in Human mutation (01.05.2020)
Get full text
Journal Article
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations
D'haene, Barbara, Meire, Françoise, Claerhout, Ilse, Kroes, Hester Y, Plomp, Astrid, Arens, Yvonne H, de Ravel, Thomy, Casteels, Ingele, De Jaegere, Sarah, Hooghe, Sally, Wuyts, Wim, van den Ende, Jenneke, Roulez, Françoise, Veenstra-Knol, Hermine E, Oldenburg, Rogier A, Giltay, Jacques, Verheij, Johanna B G M, de Faber, Jan-Tjeerd, Menten, Björn, De Paepe, Anne, Kestelyn, Philippe, Leroy, Bart P, De Baere, Elfride
Published in Investigative ophthalmology & visual science (21.01.2011)
Published in Investigative ophthalmology & visual science (21.01.2011)
Get full text
Journal Article
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn, Carron, Marjolein, Aslanidis, Alexander, Van Cauwenbergh, Caroline, Mayer, Anja K., Van Heetvelde, Mattias, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Greenberg, Michael E., Yang, Marty G., Karlstetter, Marcus, Langmann, Thomas, De Preter, Katleen, Kohl, Susanne, Cherry, Timothy J., Leroy, Bart P., De Baere, Elfride
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
Get full text
Journal Article
Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome
Beysen, Diane, De Jaegere, Sarah, Amor, David, Bouchard, Philippe, Christin-Maitre, Sophie, Fellous, Marc, Touraine, Philippe, Grix, Arthur W, Hennekam, Raoul, Meire, Françoise, Oyen, Nina, Wilson, Louise C, Barel, Dalit, Clayton-Smith, Jill, de Ravel, Thomy, Decock, Christian, Delbeke, Patricia, Ensenauer, Regina, Ebinger, Friedrich, Gillessen-Kaesbach, Gabriele, Hendriks, Yvonne, Kimonis, Virginia, Laframboise, Rachel, Laissue, Paul, Leppig, Kathleen, Leroy, Bart P, Miller, David T, Mowat, David, Neumann, Luitgard, Plomp, Astrid, Van Regemorter, Nicole, Wieczorek, Dagmar, Veitia, Reiner A, De Paepe, Anne, De Baere, Elfride
Published in Human mutation (01.11.2008)
Published in Human mutation (01.11.2008)
Get full text
Journal Article