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2018
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
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
2016
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
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
2015
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