Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Toon Rosseel

Ghent University Hospital

ORCID iD: 0000-0002-8155-3197

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- Conference Paper
- C3
- open access
Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing and linkage analysis

Tamara Jarayseh (UGent) , Adelbert De Clercq (UGent) , Toon Rosseel (UGent) , Mauro Alessio Milazzo (UGent) , Andy Willaert (UGent) and Paul Coucke (UGent)

(2023) JBMR PLUS. In JBMR Plus 7(S1).
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- Journal Article
- A1
- open access
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele (UGent) , Kent W. Small, Münevver Burcu Cicekdal (UGent) , Victor Lopez Soriano (UGent) , Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt (UGent) , Alfredo Dueñas Rey (UGent) , Toon Rosseel (UGent) , et al.

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(11). p.2029-2048
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- Conference Paper
- C3
Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Elke Bogaert (UGent) , Elke Debackere (UGent) , Pascale Hilbert, Nike Van Doninck, Marie-Caroline Taquet, Toon Rosseel (UGent) , Griet De Clercq (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80
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- Conference Paper
- C3
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

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

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45
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- Miscellaneous
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele (UGent) , Kent W. Small, Münevver Burcu Cicekdal (UGent) , Victor Lopez Soriano (UGent) , Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt (UGent) , Alfredo Dueñas Rey (UGent) , Toon Rosseel (UGent) , et al.

(2022) bioRxiv.
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- Conference Paper
- C3
- open access
Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing (WES) and linkage analysis

Tamara Jarayseh (UGent) , Adelbert De Clercq (UGent) , Toon Rosseel (UGent) , Mauro Alessio Milazzo (UGent) , Andy Willaert (UGent) and Paul Coucke

(2021) European Calcified Tissue Society (ECTS) 2021 Congress, Abstracts.
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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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- Conference Paper
- C3
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) OncoDot.3 symposium, Abstracts.
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- Book Chapter
Dealing with pseudogenes in in the next generation sequencing era

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

(2021) Pseudogenes. In Methods in Molecular Biology 2324. p.363-381

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