Ghent University Academic Bibliography

Your filters: cql: author="Haer-Wigman, Lonneke" or (type any "bookEditor issueEditor" and editor="Haer-Wigman, Lonn...

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- Miscellaneous
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Ana Belén Iglesias-Romero, Erica G M Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, et al.

(2025) medRxiv.
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- Journal Article
- A1
- open access
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, et al.

(2024) SCIENTIFIC REPORTS. 14(1).
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- Journal Article
- A1
- open access
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Wouter Steyaert (UGent) , Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, et al.

(2023) NATURE COMMUNICATIONS. 14(1).
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Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity

Stephanie Cornelis, Esmee H. Runhart, Miriam Bauwens (UGent) , Zelia Corradi, Elfride De Baere (UGent) , Susanne Roosing, Lonneke Haer-Wigman, Claire-Marie Dhaenens, Anneke T. Vulto-van Silfhout and Frans P.M. Cremers

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(3). p.498-507
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- Journal Article
- A1
- open access
The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement

Graeme C. Black, [missing] ERN-EYE study group, Panagiotis Sergouniotis, Andrea Sodi, Bart Leroy (UGent) , Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, et al.

(2021) ORPHANET JOURNAL OF RARE DISEASES. 16(1).

Academic Bibliography

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity

The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement

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