 | Up a level |
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