Toon Rosseel

Deciphering the genetic architecture of inherited retinal diseases in the Iranian population by integrated exome sequencing

Miriam Bauwens (UGent) , Kristof Van Schil (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Quinten Mahieu (UGent) , Toon Rosseel (UGent) , Ebrahim Al-Hajj, Sarah Van Malderen, Fatemeh Suri and Elfride De Baere (UGent)

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.367-367

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Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

Brecht Guillemyn (UGent) , Hanna De Saffel (UGent) , Jan Willem Bek (UGent) , Piyanoot Tapaneeyaphan (UGent) , Adelbert De Clercq (UGent) , Tamara Jarayseh (UGent) , Sophie Debaenst (UGent) , Andy Willaert (UGent) , Riet De Rycke (UGent) , Peter H. Byers, et al.

(2023) JOURNAL OF BONE AND MINERAL RESEARCH. 38(11). p.1718-1730

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Journal Article
A1
open access

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Jérémie Gautheron, Marie-Christine Vantyghem, Sonia Nouioua, Meriem Tazir, Corinne Vigouroux, Martine Auclair, Elke Bogaert (UGent) , et al.

(2023) NATURE GENETICS. 55(11). p.1929-1940

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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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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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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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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

Academic Bibliography

Toon Rosseel

Deciphering the genetic architecture of inherited retinal diseases in the Iranian population by integrated exome sequencing

Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

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

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing (WES) and linkage analysis

A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)

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