Universität zu Köln

Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn, Carron, Marjolein, Lambrechts, Laurens, Roura, Nuria Gruartmoner, Dannhausen, Katharina, Coppieters, Frauke, Karlstetter, Marcus, Langmann, Thomas, Maroofian, Reza, Webster, Andrew, Michaelides, Michel, Leroy, Bart P. and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2018). Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation: rare novel disease genes and a multitude of novel pathogenic variants in known disease genes. Invest. Ophthalmol. Vis. Sci., 59 (9). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn ORCID: 0000-0002-3294-0668, Carron, Marjolein, Aslanidis, Alexander, Van Cauwenbergh, Caroline ORCID: 0000-0002-1948-9091, Mayer, Anja Kathrin, Van Heetvelde, Mattias, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke ORCID: 0000-0001-7224-0992, Greenberg, Michael E., Yang, Marty G., Karlstetter, Marcus, Langmann, Thomas, De Preter, Katleen, Kohl, Susanne, Cherry, Timothy J., Leroy, Bart P. and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2018). Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. Genet. Med., 20 (2). S. 202 - 214. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Schil, KristofVan, Karlstetter, Marcus, Aslanidis, Alexander, Dannhausen, Katharina, Azam, Maleeha, Qamar, Raheel, Leroy, Bart P., Depasse, Fanny, Langmann, Thomas and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2016). Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7. Sci Rep, 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Coppieters, Frauke ORCID: 0000-0001-7224-0992, Ascari, Giulia ORCID: 0000-0001-6175-6774, Dannhausen, Katharina, Nikopoulos, Konstantinos ORCID: 0000-0002-1856-2752, Peelman, Frank, Karlstetter, Marcus, Xu, Mingchu, Brachet, Cecile ORCID: 0000-0001-7955-2534, Meunier, Isabelle, Tsilimbaris, Miltiadis K., Tsika, Chrysanthi, Blazaki, Styliani V., Vergult, Sarah ORCID: 0000-0002-0816-6262, Farinelli, Pietro ORCID: 0000-0002-4242-3090, Van Laethem, Thalia, Bauwens, Miriam, De Bruyne, Marieke ORCID: 0000-0001-6636-5537, Chen, Rui, Langmann, Thomas, Sui, Ruifang, Meire, Francoise, Rivolta, Carlo ORCID: 0000-0002-0733-9950, Hamel, Christian P., Leroy, Bart P. and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2016). Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Am. J. Hum. Genet., 99 (2). S. 470 - 481. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Sergouniotis, Panagiotis I., McKibbin, Martin, Robson, Anthony G., Bolz, Hanno J., De Baere, Elfride ORCID: 0000-0002-5609-6895, Mueller, Philipp L., Heller, Raoul, El-Asrag, Mohammed E., Van Schil, Kristof, Plagnol, Vincent ORCID: 0000-0002-5597-9215, Toomes, Carmel ORCID: 0000-0001-8373-9545, Ali, Manir ORCID: 0000-0003-3204-3788, Holder, Graham E., Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Leroy, Bart P., Inglehearn, Chris F. and Webster, Andrew R. (2015). Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Invest. Ophthalmol. Vis. Sci., 56 (13). S. 8083 - 8091. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Van Schil, Kristof, Meire, Francoise, Karlstetter, Marcus, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke ORCID: 0000-0001-7224-0992, Scheiffert, Eva, Van Nechel, Christian, Langmann, Thomas, Deconinck, Nicolas and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2015). Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genet. Med., 17 (4). S. 291 - 300. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Van Schil, Kristof, Meire, Francoise, Karlstetter, Marcus, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke ORCID: 0000-0001-7224-0992, Scheiffert, Eva, Van Nechel, Christian, Langmann, Thomas, Deconinck, Nicolas and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2015). Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genet. Med., 17 (4). S. 291 - 300. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Coppieters, Frauke, Bauwens, Miriam, Karlstetter, Marcus, Vleminckx, Kris, Van der Eecken, Morgane, Langmann, Thomas, Leroy, Bart Peter, Meire, Francoise and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2015). Mutation of RCBTB1 in a severe syndromic retinal ciliopathy. Invest. Ophthalmol. Vis. Sci., 56 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Van Schil, Kristof, Karlstetter, Marcus, Aslanidis, Alexander, Leroy, Bart Peter, Coppieters, Frauke, Depasse, Fanny, Langmann, Thomas and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2015). Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci., 56 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Van Cauwenbergh, Caroline, Vleminckx, Kris, Coppieters, Frauke, Karlstetter, Marcus, Langmann, Thomas, Manes, Gael, Hamel, Christian P., Leroy, Bart Peter and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2015). SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein. Invest. Ophthalmol. Vis. Sci., 56 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Van Schil, Kristof, Karlstetter, Marcus, Meire, Francoise, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Scheiffert, Eva, Deconinck, Nicolas, Langmann, Thomas and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2014). Homozygous deletion of glutamate receptor gene GRID2 causes new hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy. Invest. Ophthalmol. Vis. Sci., 55 (13). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783