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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- 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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- Journal Article
- A1
- open access
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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- 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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- Journal Article
- A1
- 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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- Journal Article
- A1
- open access
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform

Marta del Pozo Valero (UGent) , Basamat Almoallem Mohammed, Alfredo Dueñas Rey, Quinten Mahieu (UGent) , Mattias Van Heetvelde (UGent) , Laila Jeddawi, Miriam Bauwens (UGent) and Elfride De Baere (UGent)

(2024) CLINICAL GENETICS. 106(2). p.127-139
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- Miscellaneous
- open access
Juggling offsets unlocks RNA-seq tools for fast scalable differential usage, aberrant splicing and expression analyses

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

(2024) bioRxiv.
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- Journal Article
- A1
- open access
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Alfredo Dueñas Rey, Marta del Pozo Valero (UGent) , Manon Bouckaert (UGent) , Katherine A. Wood, Filip Van Den Broeck (UGent) , Malena Daich Varela, Huw B. Thomas, Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , et al.

(2024) GENOME MEDICINE. 16(1).
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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

Miriam Bauwens (UGent) , Elifnaz Celik, Dinah Zur, Siying Lin, Mathieu Quinodoz, Michel Michaelides, Andrew R Webster, Filip Van Den Broeck (UGent) , Bart Leroy (UGent) , Leah Rizel, et al.

(2024) AMERICAN JOURNAL OF HUMAN GENETICS. 111(2). p.393-402
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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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- Conference Paper
- C3
A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease

Alfredo Dueñas Rey, Manon Bouckaert (UGent) , Marta del Pozo Valero (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Jamie Ellingford, Gavin Arno, Andrew Webster, Carmen Ayuso, Carlo Rivolta, et al.

(2023) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. In Investigative Ophthalmology & Visual Science 64(8).

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