Entities

Faculty of Medicine and Health Sciences
Department of Head and Skin

Address

C. Heymanslaan 10, ingang 17 - verdieping 1
9000 Gent

Bibliography

• Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy (2020) Miriam Bauwens (UGent), Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Riet De Rycke (UGent), Brecht Guillemyn (UGent), Sarah De Jaegere (UGent), Frauke Coppieters (UGent), Rudy Van Coster (UGent), Bart Leroy (UGent), Elfride De Baere (UGent)
• Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility (2020) Giulia Ascari (UGent), Frank Peelman (UGent), Pietro Farinelli, Toon Rosseel (UGent), Nina Lambrechts (UGent), Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova (UGent), Lara Derycke (UGent), Gabriële Holtappels (UGent), Olga Krysko (UGent), Thalia Van Laethem (UGent), Sarah De Jaegere (UGent), Brecht Guillemyn (UGent), Riet De Rycke (UGent), Jan De Bleecker (UGent), David Creytens (UGent), Jo Van Dorpe (UGent), Jan Gerris (UGent), Claus Bachert (UGent), Christiane Neuhofer, SOPHIE WALRAEDT (UGent), Almut Bischoff, Lotte B. Pedersen, Thomas Klopstock, Carlo Rivolta, Bart Leroy (UGent), Elfride De Baere (UGent), Frauke Coppieters (UGent)
• The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56 (2020) Basamat Almoallem Mohammed (UGent), Gavin Arno, Julie De Zaeytijd (UGent), Hannah Verdin (UGent), Irina Balikova (UGent), Ingele Casteels, Thomy de Ravel, Sarah Hull, Martina Suzani, Anne Destrée, Michelle Peng, Denise Williams, John R. Ainsworth, Andrew R. Webster, Bart Leroy (UGent), Anthony T. Moore, Elfride De Baere (UGent)

Full bibliography