Caroline Van Cauwenbergh

5PUBLICATIONS
21CO-AUTHORS
Ophthalmology and optometry not elsewhere classifiedLinguistic structures (incl. phonology, morphology and syntax)Nonlinear optics and spectroscopyGene expression (incl. microarray and other genome-wide approaches)
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Publications (5)

|May 05, 2021
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.

Julie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne

|Apr 16, 2021
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene.

Justine Vandeputte, Mattias Van Heetvelde, Caroline Van Cauwenbergh

|Jan 23, 2019
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.

Sarah Naessens, Julie De Zaeytijd, Delfien Syx

|Jan 12, 2017
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.

Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels

|Sep 09, 2016
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.

Caroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt

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Frequent Collaborators

3 joint publications

Julie De Zaeytijd

3 joint publications

Bart P Leroy

2 joint publications

Elfride De Baere

2 joint publications

Frauke Coppieters