Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Alfredo Dueñas Rey

Faculty of Medicine and Health Sciences > Department of Biomolecular Medicine

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CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens (UGent) , Alfredo Dueñas Rey (UGent) , Stephan Kaeseberg, Melanie Jaeger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, et al.

(2023) JOURNAL OF CLINICAL INVESTIGATION. 133(8).
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Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele (UGent) , Kent W. Small, Münevver Burcu Cicekdal (UGent) , Victor Lopez Soriano (UGent) , Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt (UGent) , Alfredo Dueñas Rey (UGent) , Toon Rosseel (UGent) , et al.

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(11). p.2029-2048
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- Conference Paper
- C3
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

Giulia Ascari (UGent) , Nanna D. Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Mattias Van Heetvelde (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , Jo Van Dorpe (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45
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- Miscellaneous
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele (UGent) , Kent W. Small, Münevver Burcu Cicekdal (UGent) , Victor Lopez Soriano (UGent) , Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt (UGent) , Alfredo Dueñas Rey (UGent) , Toon Rosseel (UGent) , et al.

(2022) bioRxiv.
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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss

Giulia Ascari (UGent) , Nanna D Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Mattias Van Heetvelde (UGent) , Alfredo Dueñas Rey (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021) ESHG Conference 2021, Abstracts.
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- Conference Paper
- C3
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Nanna Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Mattias Van Heetvelde (UGent) , Alfredo Dueñas Rey (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021) ARVO 2021, Abstracts.
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- Journal Article
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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Nanna D. Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Miriam Bauwens (UGent) , Mattias Van Heetvelde (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021) FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 9.
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The MHC class II transactivator modulates seeded alpha-synuclein pathology and dopaminergic neurodegeneration in an in vivo rat model of Parkinson's disease

I Jimenez-Ferrer, F Bäckström, Alfredo Dueñas Rey (UGent) , M Jewett, A Boza-Serrano, KC Luk, T Deierborg and M Swanberg

(2021) BRAIN BEHAVIOR AND IMMUNITY. 91. p.369-382
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Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement

Sabrina Mechaussier, Basamat Almoallem Mohammed (UGent) , Christina Zeitz, Kristof Van Schil (UGent) , Laila Jeddawi, Jo Van Dorpe (UGent) , Alfredo Dueñas Rey (UGent) , Christel Condroyer, Olivier Pelle, Michel Polak, et al.

(2020) AMERICAN JOURNAL OF HUMAN GENETICS. 106(6). p.859-871