Ghent University Academic Bibliography

Your filters: cql: affiliation exact GE cql: author exact 801001092925

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- Journal Article
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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

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

(2026) NATURE GENETICS. 58(1). p.169-179
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- A1
- open access
saseR : juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval

Alexandre Segers (UGent) , Jeroen Gilis, Mattias Van Heetvelde (UGent) , Davide Risso, Elfride De Baere (UGent) and Lieven Clement (UGent)

(2026) GENOME BIOLOGY. 27(1).
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- Conference Paper
- C3
Evaluation of the AmplideX® SMA Plus Kit for comprehensive SMN1/SMN2 analysis in Spinal Muscular Atrophy

Liesbeth Claeys (UGent) , Annelies De Jaegher (UGent) , Jennifer Anckaert (UGent) , Xenia Leroy (UGent) , Tjoïlina Reyniers (UGent) , Melek Yoruk (UGent) , Elfride De Baere (UGent) and Kathleen Claes (UGent)

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.316-317
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- open access
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Miriam Bauwens (UGent) , Vincent De Man, Isabelle Audo, Irina Balikova, Wadih M. Zein, Vasily Smirnov, Sebastian Held, Sascha Vermeer, Elke Loos, Julie Jacob, et al.

(2025) CLINICAL GENETICS. 107(1). p.44-55
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- 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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- Miscellaneous
- open access
omicsGMF : a multi-tool for dimensionality reduction, batch correction and imputation applied to bulk- and single cell proteomics data

Alexandre Segers (UGent) , Cristian Castiglione, Christophe Vanderaa (UGent) , Elfride De Baere (UGent) , Lennart Martens (UGent) , Davide Risso and Lieven Clement (UGent)

(2025) bioRxiv.
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Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies

Lude Moekotte, Joke H. de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan-Thanh-An Nguyen, Carel B. Hoyng, Chris F. Inglehearn, Martin Mckibbin, Tina M. Lamey, Jennifer A. Thompson, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(2).
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- Journal Article
- A1
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Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice

Andreea D. Pantiru, Stijn Van de Sompele (UGent) , Clemence Ligneul, Camille Chatelain, Christophe Barrea, Jason P. Lerch, Beatrice M. Filippi, Serpil Alkan, Elfride De Baere (UGent) , Jamie Johnston, et al.

(2025) MOLECULAR AUTISM. 16(1).
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- Miscellaneous
TurboID proximity interactome mapping reveals NR2E3 association with AP-1 and retinal developmental complexes

Edith De Bruycker (UGent) , Olivier Zwaenepoel (UGent) , Georgios Moschonas (UGent) , Delphine De Sutter (UGent) , Eva D'haene (UGent) , Charlotte Matton (UGent) , Laure Vandevelde (UGent) , JULIE VAN DE VELDE (UGent) , Quinten Mahieu (UGent) , Sara Dufour (UGent) , et al.

(2025) BioRxiv.
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- Journal Article
- A2
Intermediate uveitis in common variable immunodeficiency (CVID) associated with a heterozygous variant in the TNFRSF13B gene

Mathijs Osaer, Wim Terryn, Elfride De Baere (UGent) , Ciel De Vriendt (UGent) , Filomeen Haerynck (UGent) , Tessa Kerre (UGent) and Elke O. Kreps (UGent)

(2025) RETINAL CASES & BRIEF REPORTS. 19(5). p.644-646

Academic Bibliography

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

saseR : juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval

Evaluation of the AmplideX® SMA Plus Kit for comprehensive SMN1/SMN2 analysis in Spinal Muscular Atrophy

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

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

omicsGMF : a multi-tool for dimensionality reduction, batch correction and imputation applied to bulk- and single cell proteomics data

Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies

Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice

TurboID proximity interactome mapping reveals NR2E3 association with AP-1 and retinal developmental complexes

Intermediate uveitis in common variable immunodeficiency (CVID) associated with a heterozygous variant in the TNFRSF13B gene

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