Universität zu Köln

Journal Article

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

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, 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

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

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