Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility
- Author
- Giulia Ascari (UGent) , Frank Peelman (UGent) , Pietro Farinelli, Toon Rosseel (UGent) , Nina Lambrechts, 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, Claus Bachert (UGent) , Christiane Neuhofer, SOPHIE WALRAEDT (UGent) , Almut Bischoff, Lotte B. Pedersen, Thomas Klopstock, Carlo Rivolta, Bart Leroy (UGent) , Elfride De Baere (UGent) and Frauke Coppieters (UGent)
- Organization
- Keywords
- Genetics(clinical), Genetics
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Citation
Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-8645355
- MLA
- Ascari, Giulia, et al. “Functional Characterization of the First Missense Variant in CEP78, a Founder Allele Associated with Cone‐rod Dystrophy, Hearing Loss and Reduced Male Fertility.” HUMAN MUTATION, vol. 41, no. 5, 2020, pp. 998–1011, doi:10.1002/humu.23993.
- APA
- Ascari, G., Peelman, F., Farinelli, P., Rosseel, T., Lambrechts, N., Wunderlich, K. A., … Coppieters, F. (2020). Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility. HUMAN MUTATION, 41(5), 998–1011. https://doi.org/10.1002/humu.23993
- Chicago author-date
- Ascari, Giulia, Frank Peelman, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, et al. 2020. “Functional Characterization of the First Missense Variant in CEP78, a Founder Allele Associated with Cone‐rod Dystrophy, Hearing Loss and Reduced Male Fertility.” HUMAN MUTATION 41 (5): 998–1011. https://doi.org/10.1002/humu.23993.
- Chicago author-date (all authors)
- Ascari, Giulia, Frank Peelman, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, Gabriële Holtappels, Olga Krysko, Thalia Van Laethem, Sarah De Jaegere, Brecht Guillemyn, Riet De Rycke, Jan De Bleecker, David Creytens, Jo Van Dorpe, Jan Gerris, Claus Bachert, Christiane Neuhofer, SOPHIE WALRAEDT, Almut Bischoff, Lotte B. Pedersen, Thomas Klopstock, Carlo Rivolta, Bart Leroy, Elfride De Baere, and Frauke Coppieters. 2020. “Functional Characterization of the First Missense Variant in CEP78, a Founder Allele Associated with Cone‐rod Dystrophy, Hearing Loss and Reduced Male Fertility.” HUMAN MUTATION 41 (5): 998–1011. doi:10.1002/humu.23993.
- Vancouver
- 1.Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, et al. Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility. HUMAN MUTATION. 2020;41(5):998–1011.
- IEEE
- [1]G. Ascari et al., “Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility,” HUMAN MUTATION, vol. 41, no. 5, pp. 998–1011, 2020.
@article{8645355,
author = {{Ascari, Giulia and Peelman, Frank and Farinelli, Pietro and Rosseel, Toon and Lambrechts, Nina and Wunderlich, Kirsten A. and Wagner, Matias and Nikopoulos, Konstantinos and Martens, Pernille and Balikova, Irina and Derycke, Lara and Holtappels, Gabriële and Krysko, Olga and Van Laethem, Thalia and De Jaegere, Sarah and Guillemyn, Brecht and De Rycke, Riet and De Bleecker, Jan and Creytens, David and Van Dorpe, Jo and Gerris, Jan and Bachert, Claus and Neuhofer, Christiane and WALRAEDT, SOPHIE and Bischoff, Almut and Pedersen, Lotte B. and Klopstock, Thomas and Rivolta, Carlo and Leroy, Bart and De Baere, Elfride and Coppieters, Frauke}},
issn = {{1059-7794}},
journal = {{HUMAN MUTATION}},
keywords = {{Genetics(clinical),Genetics}},
language = {{eng}},
number = {{5}},
pages = {{998--1011}},
title = {{Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility}},
url = {{http://doi.org/10.1002/humu.23993}},
volume = {{41}},
year = {{2020}},
}
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