Academic Bibliography

Search 200 years of publications by Ghent University researchers.

dr. Mattias Van Heetvelde

Faculty of Medicine and Health Sciences > Department of Biomolecular Medicine

ORCID iD: 0000-0001-5758-0366

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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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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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In-depth phenotypic study of a Novel Autosomal Dominant RPE65-related Retinal Dystrophy

Filip Van Den Broeck (UGent) , Eline Van Vooren (UGent) , Manon Van Haute (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Mattias Van Heetvelde (UGent) , Quinten Mahieu (UGent) , Sheetal Uppal, Eugenia Poliakov, T. Michael Redmond, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. In Investigative Ophthalmology & Visual Science 66(8).
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Discovery, replication and characterization of a novel dominantRPE65-related retinopathy due to founder variant p.(E519K) expanding the therapeutic potential

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.94-95
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Multi-omics profiling of human ovarian granulosa cells uncovers cell type-specific regulatory landscapes

Charlotte Matton (UGent) , Julie Van De Velde (UGent) , Quinten Mahieu (UGent) , Lisa Hamerlinck (UGent) , Lara Colombo (UGent) , Sarah Vergult (UGent) , Alexandre Segers (UGent) , Mattias Van Heetvelde (UGent) , Seoyeon Oh (UGent) , Celine Everaert (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.573-573
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- Miscellaneous
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) Research Square.
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RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(12).
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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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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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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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