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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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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An integrated approach to uncover the genetic architecture of inherited blindness in a consanguineous Iranian cohort

Lieselot Vincke (UGent) , Kristof Van Schil (UGent) , Marieke De Bruyne (UGent) , Quinten Mahieu (UGent) , Marta del Pozo Valero (UGent) , Mattias Van Heetvelde (UGent) , Toon Rosseel (UGent) , Ebrahim Al-Hajj, Astrid Rombaut, Sarah Van Malderen, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1327-1328
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Closing the gap : overcoming the challenges of RPGR ORF15 sequencing, a target for gene therapy of X-linked retinitis pigmentosa

Stijn Van de Sompele (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Toon Rosseel (UGent) , Bart Leroy (UGent) , Julie De Zaeytijd (UGent) , Brecht Guillemyn (UGent) , Kathleen Claes (UGent) , Kim De Leeneer (UGent) , Miriam Bauwens (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1332-1333
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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) , Jeremie Gautheron, Marie-Christine Vantyghem, Sonia Nouioua, Meriem Tazir, Corinne Vigouroux, Martine Auclair, Elke Bogaert (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1353-1354
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Immunogenomics solves missing heritability and ends the diagnostic odyssey in RAG1-SCID

Marieke De Bruyne (UGent) , Lore Pottie (UGent) , Stijn Van de Sompele (UGent) , Nancy De Cabooter (UGent) , Delfien Bogaert (UGent) , Levi Hoste (UGent) , Toon Rosseel (UGent) , Kim De Leeneer (UGent) , Victoria Bordon, Jana Neirinck (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32(Supplement 2). p.1039-1039
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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 phenotypic and mechanistic variability in Bruck syndrome and Osteogenesis imperfecta, through a zebrafish model with loss of fkbp10

Tamara Jarayseh (UGent) , Hanna De Saffel (UGent) , Toon Rosseel (UGent) , Mauro Alessio Milazzo (UGent) , Sophie Debaenst (UGent) , Paul Eckhard Witten (UGent) , Andy Willaert (UGent) and Paul Coucke (UGent)

(2023) JOURNAL OF BONE AND MINERAL RESEARCH. In Journal of Bone and Mineral Research 38(Supplement 2). p.76-76
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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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