Toon Rosseel

Journal Article
A1
open access

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Lieselot Vincke (UGent) , Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, et al.

(2025) NPJ GENOMIC MEDICINE. 10(1).

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Unexpected high prevalence of focal facial dermal dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Aude Beyens (UGent) , Stefanie van de Voorde, Marta Guerreiro Santano Ramos Da Silva, Sofie De Meulemeester, Koen Devriendt, Marleen Goeteyn (UGent) , Sandra Janssens (UGent) , R. Frank Kooy, Toon Rosseel (UGent) , Sofie Symoens (UGent) , et al.

(2025) CLINICAL GENETICS. 107(5). p.579-581

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Journal Article
A1
open access

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model

Tamara Jarayseh (UGent) , Sophie Debaenst (UGent) , Hanna De Saffel (UGent) , Toon Rosseel (UGent) , Mauro Alessio Milazzo (UGent) , Jan Willem Bek (UGent) , David M Hudson, Filip Van Nieuwerburgh (UGent) , Yannick Gansemans (UGent) , Iván Josipovic (UGent) , et al.

(2024) JOURNAL OF BONE AND MINERAL RESEARCH. 40(1). p.154-166

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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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Unraveling the genetic basis of early-onset inherited retinal disease in a Saudi Arabian cohort reveals a novel RIMS2-related family

Basamat Almoallem Mohammed (UGent) , Marta del Pozo Valero (UGent) , Laila Jeddawi, Kristof Van Schil, Toon Rosseel (UGent) , Sarah De Jaegere (UGent) , Bart Leroy (UGent) , Khalid Emara, Frauke Coppieters (UGent) , Miriam Bauwens (UGent) , et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.114-114

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Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies

Stijn Van de Sompele (UGent) , Caroline Van Cauwenbergh (UGent) , Marjolein Carron (UGent) , Alfredo Dueñas Rey (UGent) , Frauke Coppieters (UGent) , Toon Rosseel (UGent) , Hong Tran, Robrecht Cannoodt (UGent) , Thalia Van Laethem (UGent) , Brecht Guillemyn (UGent) , et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.71-71

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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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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

Academic Bibliography

Toon Rosseel

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Unexpected high prevalence of focal facial dermal dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model

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

Unraveling the genetic basis of early-onset inherited retinal disease in a Saudi Arabian cohort reveals a novel RIMS2-related family

Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies

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

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