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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