Academic Bibliography

Search 200 years of publications by Ghent University researchers.

dr. Caroline Van Cauwenbergh

Faculty of Medicine and Health Sciences > Department of Head and Skin

Work address: C. Heymanslaan 10
9000 Gent
Email: Caroline.VanCauwenbergh@UGent.be

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The human biofluid RNA atlas : expanding the liquid biopsy field beyond the blood stream

Eva Hulstaert (UGent) , Kimberly Verniers (UGent) , Justine Nuytens (UGent) , Eveline Vanden Eynde (UGent) , Nurten Yigit (UGent) , Jasper Anckaert (UGent) , Anja Geerts (UGent) , Peggy Jacques (UGent) , Guy Brusselle (UGent) , Thierry Derveaux (UGent) , et al.

(2019) OncoPoint, 7th Research seminar, Abstracts.
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The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Sarah Naessens (UGent) , Julie De Zaeytijd (UGent) , Delfien Syx (UGent) , Roosmarijn Vandenbroucke (UGent) , Frédéric Smeets, Caroline Van Cauwenbergh (UGent) , Bart Leroy (UGent) , Frank Peelman (UGent) and Frauke Coppieters (UGent)

(2019) HUMAN MUTATION. 40(5). p.539-551
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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens (UGent) , Alejandro Garanto, Riccardo Sangermano, Sarah Naessens (UGent) , Nicole Weisschuh, Julie De Zaeytijd (UGent) , Mubeen Khan, Françoise Sadler, Irina Balikova (UGent) , Caroline Van Cauwenbergh (UGent) , et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1761-1771
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Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease

Miriam Bauwens (UGent) , Sarah Naessens (UGent) , Caroline Van Cauwenbergh (UGent) , Thalia Van Laethem (UGent) , Sarah De Jaegere (UGent) , Irina Balikova (UGent) , Yves Sznajer, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) and Elfride De Baere (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.42-43
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes

Stijn Van De Sompele (UGent) , Kristof Van Schil (UGent) , Caroline Van Cauwenbergh (UGent) , Toon Rosseel (UGent) , Sarah De Jaegere (UGent) , Thalia Van Laethem (UGent) , Irina Balikova (UGent) , Bart Leroy (UGent) , Frauke Coppieters (UGent) and Elfride De Baere (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.54-54
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The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

Mays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh (UGent) , Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, Maria M. van Genderen, Elfride De Baere (UGent) , et al.

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(10). p.4123-4133
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes

Stijn Van De Sompele (UGent) , Kristof Van Schil (UGent) , Caroline Van Cauwenbergh (UGent) , Toon Rosseel (UGent) , Sarah De Jaegere (UGent) , Thalia Van Laethem (UGent) , Irina Balikova (UGent) , Bart Leroy (UGent) , Elfride De Baere (UGent) and Frauke Coppieters (UGent)

(2018) Belgian Society for Human Genetics, 18th Annual meeting, Abstracts.
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil (UGent) , Sarah Naessens (UGent) , Stijn Van De Sompele (UGent) , Marjolein Carron (UGent) , Alexander Aslanidis, Caroline Van Cauwenbergh (UGent) , Anja Kathrin Mayer, Mattias Van Heetvelde (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , et al.

(2018) GENETICS IN MEDICINE. 20(2). p.202-213
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Hidden genetic variation in Stargardt disease : novel copy number variations, cis-regulatory and deep-intronic splice variants within the ABCA4 locus

Miriam Bauwens (UGent) , Riccardo Sangermano, Timothy Cherry, Caroline Van Cauwenbergh (UGent) , Jose Luis Gomez-Skarmeta, Nicole Weisschuh, Susanne Kohl, Bart Leroy (UGent) , Frans Cremers and Elfride De Baere (UGent)

(2017) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 58(8).
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil (UGent) , Sarah Naessens (UGent) , Stijn Van De Sompele (UGent) , Marjolein Carron (UGent) , Alexander Aslanidis, Caroline Van Cauwenbergh (UGent) , Anja Kathrin Mayer, Mattias Van Heetvelde (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , et al.

(2017) Science Day, Faculty of Medicine and Health Science, Ghent University, Abstracts.

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