Ghent University Academic Bibliography

Your filters: cql: author="Quinodoz, Mathieu" or (type any "bookEditor issueEditor" and editor="Quinodoz, Mathieu")

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- Journal Article
- A1
- open access
A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Julio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele (UGent) , Karolina Kaminska, Katarina Jovanovic, Pascal Escher, Filip Van Den Broeck (UGent) , Francesca Cancellieri, Vasileios Toulis, Bart Leroy (UGent) , et al.

(2025) HUMAN MOLECULAR GENETICS. 34(9). p.821-834
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- Journal Article
- A1
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RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska, Mukhtar Ullah, Pilar Barberán-Martínez, Manon Bouckaert (UGent) , Marta Cortón, Emma Delanote (UGent) , et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 12(10). p.2253-2265
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- Journal Article
- A1
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Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R. Moye, Miriam Bauwens (UGent) , Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez, Regina Schlaeger, et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 112(4). p.808-828
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- Miscellaneous
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Ana Belén Iglesias-Romero, Erica G M Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, et al.

(2025) medRxiv.

Academic Bibliography

A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

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