Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Marieke De Bruyne

Ghent University Hospital

Work address: Stalen medische genetica C. Heymanslaan 10
9000 Gent
Email: Marieke.DeBruyne@UGent.be
ORCID iD: 0000-0001-6636-5537

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- Journal Article
- A1
- open access
Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement

Leslie Naesens (UGent) , Josephine Nemegeer (UGent) , Filip Roelens, Lore Vallaeys, Marije Meuwissen, Katrien Janssens, Patrick Verloo (UGent) , Benson Ogunjimi, Dimitri Hemelsoet (UGent) , Levi Hoste (UGent) , et al.

(2022) JOURNAL OF CLINICAL IMMUNOLOGY.
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Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene

Julie De Zaeytijd (UGent) , Frauke Coppieters (UGent) , Marieke De Bruyne (UGent) , Jasper Van Royen, Dimitri Roels (UGent) , Rani Six, Caroline Van Cauwenbergh (UGent) , Elfride De Baere (UGent) and Bart Leroy (UGent)

(2021) OPHTHALMIC GENETICS. 42(5). p.521-532
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GTF3A mutations in a patient with herpes simplex encephalitis reveals a novel role in viral immunity by transcribing 5S rRNA pseudogenes serving as RIG-I ligands

Leslie Naesens (UGent) , Santoshi Muppala, Jung-Hyun Lee, Josephine Nemegeer (UGent) , Dhiraj Acharya, Delfien Bogaert (UGent) , Michiel van Gent, Jens Staal (UGent) , Katrien Staes (UGent) , Veronique Debacker (UGent) , et al.

(2021) VIB Translational Immunology, Abstracts.
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- Conference Paper
- C3
Novel mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF and result in Aicardi-Goutières syndrome with severe end-organ involvement

Leslie Naesens (UGent) , Josephine Nemegeer (UGent) , Filip Roelens, Lore Vallaeys, Marije Meuwissen, Katrien Janssens, Patrick Verloo (UGent) , Benson Ogunjimi (UGent) , Dimitri Hemelsoet (UGent) , Program for Undiagnosed Rare Diseases (UD-PrOZA), et al.

(2021) 25th Annual Congress of the Belgian Society of Internal Medicine, Abstracts.
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- Journal Article
- A1
- open access
A novel non-coding variant in DCLRE1C results in deregulated splicing and induces SCID through the generation of a truncated ARTEMIS protein that fails to support V(D)J recombination and DNA damage repair

Steven Strubbe (UGent) , Marieke De Bruyne (UGent) , Ulrich Pannicke, Elien Beyls (UGent) , Bart Vandekerckhove (UGent) , Georges Leclercq (UGent) , Elfride De Baere (UGent) , Victoria Bordon, Anne Vral (UGent) , Klaus Schwarz, et al.

(2021) FRONTIERS IN IMMUNOLOGY. 12.
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- Conference Paper
- C3
Integration of genomics and transcriptomics allows the identification of rare DNA damage defects in PID patients with a cancer predisposition

Lynn Backers (UGent) , Bram Parton (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Kim De Leeneer (UGent) , Simon Tavernier (UGent) , Anne Vral (UGent) , Filomeen Haerynck (UGent) and Kathleen Claes (UGent)

(2021) Belgian Society for Human Genetics 21th Annual meeting, Abstracts.
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- Conference Paper
- C3
Integration of genomics and transcriptomics to identify DNA damage defects in PID patients prone to cancer

Lynn Backers (UGent) , Bram Parton (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Kim De Leeneer (UGent) , Anne Vral (UGent) , Filomeen Haerynck (UGent) and Kathleen Claes (UGent)

(2021) European Society of Human Genetics (ESHG) Conference, Abstracts.
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- Conference Paper
- C3
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss

Giulia Ascari (UGent) , Nanna D Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Mattias Van Heetvelde (UGent) , Alfredo Dueñas Rey (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021) ESHG Conference 2021, Abstracts.
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- Conference Paper
- C3
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Nanna Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Mattias Van Heetvelde (UGent) , Alfredo Dueñas Rey (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021) ARVO 2021, Abstracts.
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- Journal Article
- A1
- open access
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Nanna D. Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Miriam Bauwens (UGent) , Mattias Van Heetvelde (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021) FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 9.

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