Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Toon Rosseel

Ghent University Hospital

Work address: Stalen medische genetica C. Heymanslaan 10
9000 Gent
Email: Toon.Rosseel@UGent.be
ORCID iD: 0000-0002-8155-3197

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- Journal Article
- A1
- open access
A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)

Kent W. Small, Stijn Van De Sompele (UGent) , Karen Nuytemans, Andrea Vincent, Ozge Ozalp Yuregir, Emine Ciloglu, Cahfer Sariyildiz, Toon Rosseel (UGent) , Jessica Avetisjan, Nitin Udar, et al.

(2021) MOLECULAR VISION. 27. p.518-527
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- Journal Article
- A1
- open access
Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients

Greet Wieme (UGent) , Jan Kral, Toon Rosseel (UGent) , Petra Zemankova, Bram Parton (UGent) , Michal Vocka, Mattias Van Heetvelde (UGent) , Petra Kleiblova, Bettina Blaumeiser, Jana Soukupova, et al.

(2021) CANCERS. 13(17).
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- Book Chapter
- open access
Dealing with Pseudogenes in in the Next Generation Sequencing Era

Kathleen Claes (UGent) , Toon Rosseel (UGent) and Kim De Leeneer (UGent)

(2021) Methods in Molecular Biology. In Pseudogenes
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- Journal Article
- A1
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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Nanna D. Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Miriam Bauwens (UGent) , Mattias Van Heetvelde (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021) FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 9.
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- Journal Article
- A1
- open access
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

Ine Strubbe (UGent) , Caroline Van Cauwenbergh (UGent) , Julie De Zaeytijd (UGent) , Sarah De Jaegere (UGent) , Marieke De Bruyne (UGent) , Toon Rosseel (UGent) , Stijn Van De Sompele (UGent) , Elfride De Baere (UGent) and Bart Leroy (UGent)

(2021) SCIENTIFIC REPORTS. 11.
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- Conference Paper
- C3
Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing

Giulia Ascari (UGent) , Nanna D. Rendtorff, Julie De Zaeytijd (UGent) , Valerie Baumont (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Toon Rosseel (UGent) , Tim De Pooter, Peter De Rijk, Wouter De Coster, et al.

(2020) Retina Conference 2020, Abstracts.
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- Conference Paper
- C3
Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing

Giulia Ascari (UGent) , Nanna D. Rendtorff, Julie De Zaeytijd (UGent) , Valerie Baumont (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Toon Rosseel (UGent) , Tim De Pooter, Peter De Rijk, Wouter De Coster, et al.

(2020) Società Italiana Genetica Umana (SIGU 2020), Abstracts.
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- Conference Paper
- C3
Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing

Giulia Ascari (UGent) , Nanna D. Rendtorff, Julie Jacob, Julie De Zaeytijd (UGent) , Valerie Baumont (UGent) , Marieke De Bruyne (UGent) , Toon Rosseel (UGent) , Mattias Van Heetvelde (UGent) , Tim De Pooter, Wouter De Coster, et al.

(2020) Genetics of Ocular Development (GoOD) meeting, Abstracts.
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- Conference Paper
- C3
Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

Hannah Verdin (UGent) , Toon Rosseel (UGent) , Sascha Vermeer, Irina Balikova (UGent) , Philippe Kestelyn (UGent) , Colombine Meunier, Françoise Meire (UGent) , Julie Van De Velde (UGent) , Olivier Vanakker (UGent) , Jenneke Van Den Ende, et al.

(2020) Belgian Society for Human Genetics, 20th Annual meeting, Abstracts.
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- Journal Article
- A1
- open access
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Giulia Ascari (UGent) , Frank Peelman (UGent) , Pietro Farinelli, Toon Rosseel (UGent) , Nina Lambrechts (UGent) , Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova (UGent) , et al.

(2020) HUMAN MUTATION. 41(5). p.998-1011

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