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Academic Bibliography

Search 200 years of publications by Ghent University researchers.

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Your filters: cql: author=" Dhaenens, Claire-Marie" or (type any "bookEditor issueEditor" and editor=" Dhaenens, Cla...

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- Journal Article
- A1
- open access
Towards uncovering the role of incomplete penetrance in maculopathies through sequencing of 105 disease-associated genes

Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stoehr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, et al.

(2024) BIOMOLECULES. 14(3).
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- Journal Article
- A1
- open access
Compendium of clinical variant classification for 2,246 unique ABCA4 variants to clarify variant pathogenicity in Stargardt disease using a modified ACMG/AMP framework

Stephanie Cornelis, Miriam Bauwens (UGent) , Lonneke Haer-Wigman, Marieke De Bruyne (UGent) , Madhulatha Pantrangi, Elfride De Baere (UGent) , Robert B. Hufnagel, Claire-Marie Dhaenens and Frans P. M. Cremers

(2023) HUMAN MUTATION. 2023.
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- Conference Paper
- C3
Identification and characterization of a novel retinaspecific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal disease

Alfredo Dueñas Rey (UGent) , Victor Lopez Soriano (UGent) , Zelia Corradi, Claire-Marie Dhaenens, Manon Bouckaert (UGent) , Jasper Verwilt (UGent) , Avril Watson, Majlinda Lako, Eva D'haene (UGent) , Karla Alejandra Ruiz Ceja, et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.78-79

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