Ghent University Academic Bibliography

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2018
- U
- conference
Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes
Stijn Van De Sompele UGent, Kristof Van Schil UGent, Caroline Van Cauwenbergh UGent, Toon Rosseel UGent, Sarah De Jaegere, Thalia Van Laethem UGent, Irina Balikova, Bart Leroy UGent, Frauke Coppieters and Elfride De Baere UGent (2018) 55nd Annual Meeting of the ESHG. Mark
- U
- conference
Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes
Stijn Van De Sompele UGent, Kristof Van Schil UGent, Caroline Van Cauwenbergh UGent, Toon Rosseel UGent, Sarah De Jaegere, Thalia Van Laethem UGent, Irina Balikova, Bart Leroy UGent, Elfride De Baere UGent and Frauke Coppieters (2018) 18th Annual Meeting of the BeSHG. Mark
2017
- A1
- journalArticle
arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
Caroline Van Cauwenbergh UGent, Kristof Van Schil UGent, Robrecht Cannoodt UGent, Miriam Bauwens UGent, Thalia Van Laethem UGent, Sarah De Jaegere, Wouter Steyaert UGent, Tom Sante, Björn Menten UGent, Bart Leroy UGent, et al. (2017) GENETICS IN MEDICINE. 19(4). p.457-466 Mark
2016
- A1
- journalArticle
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
Frauke Coppieters, Giulia Ascari UGent, Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman UGent, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K Tsilimbaris, et al. (2016) AMERICAN JOURNAL OF HUMAN GENETICS. 99(2). p.470-480 Mark