Caroline Van Cauwenbergh

Publication Activity (10 Years)

Years Active: 2016-2021
Publications (10 Years): 5

Top Topics

Dna Methylation

Diabetic Retinopathy

Top Venues

Ophthalmic genetics

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Justine Vandeputte, Mattias Van Heetvelde, Caroline Van Cauwenbergh, Sara Seneca, Elfriede De Baere, Bart Peter Leroy, Julie De Zaeytijd
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. Ophthalmic genetics 42 (4) (2021)
Julie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne, Jasper Van Royen, Dimitri Roels, Rani Six, Caroline Van Cauwenbergh, Elfriede De Baere, Bart Peter Leroy
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene. Ophthalmic genetics 42 (5) (2021)
Sarah Naessens, Julie De Zaeytijd, Delfien Syx, Roosmarijn E. Vandenbroucke, Frédéric Smeets, Caroline Van Cauwenbergh, Bart Peter Leroy, Frank Peelman, Frauke Coppieters
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond. Human mutation 40 (5) (2019)
Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Bart P Leroy, Elfride De Baere
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. PloS one 12 (1) (2017)
Caroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt, Miriam Bauwens, Thalia Van Laethem, Sarah De Jaegere, Wouter Steyaert, Tom Sante, Björn Menten, Bart P Leroy, Frauke Coppieters, Elfride De Baere
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. Genetics in medicine : official journal of the American College of Medical Genetics 19 (4) (2016)