Marieke De Bruyne

Journal Article
A1
open access

Case report : integrated genomic and immunological assays identify non-coding CFB variants in pneumococcal meningoencephalitis

Jana Barbieur (UGent) , Evelien D'Haenens, Tamara Jarayseh (UGent) , Levi Hoste (UGent) , J. Smet, Stefanie Lambrecht, Eva Schiettecatte (UGent) , Petra Schelstraete (UGent) , Marieke De Bruyne (UGent) , Filomeen Haerynck (UGent) , et al.

(2026) FRONTIERS IN IMMUNOLOGY. 17.

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Journal Article
A1
open access

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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Conference Paper
C3
open access

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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Journal Article
A1
open access

Short-term outcomes of pediatric patients with mild autosomal recessive RPE65-associated retinal dystrophy treated with voretigene neparvovec

David A. Merle, Leen Hertens (UGent) , Spyridon Dimopoulos, Susanne Kohl, Manon Van Haute (UGent) , Elfride De Baere (UGent) , Marieke De Bruyne (UGent) , Barbara Janssens (UGent) , Klaus Ruther, Cord Huchzermeyer, et al.

(2025) TRANSLATIONAL VISION SCIENCE & TECHNOLOGY. 14(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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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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A1
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Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies

Jette J. Bakhuizen, Freerk van Dijk, Sebastian B.B. Bon, Lars T. van der Veken, Manon M.H. Huibers, Joris M. van Montfrans, Marieke De Bruyne (UGent) , Barbara De Moerloose (UGent) , Filomeen Haerynck (UGent) , Jan L.C. Loeffen, et al.

(2025) EUROPEAN JOURNAL OF CANCER. 226.

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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

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

Evi Duthoo (UGent) , Elien Beyls (UGent) , Lynn Backers, Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere (UGent) , Sebastian Riemann (UGent) , Bram Parton (UGent) , Likun Du, Veronique Debacker (UGent) , et al.

(2025) JOURNAL OF EXPERIMENTAL MEDICINE. 222(5).

Academic Bibliography

Marieke De Bruyne

Case report : integrated genomic and immunological assays identify non-coding CFB variants in pneumococcal meningoencephalitis

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

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

Short-term outcomes of pediatric patients with mild autosomal recessive RPE65-associated retinal dystrophy treated with voretigene neparvovec

Discovery, replication and characterization of a novel dominantRPE65-related retinopathy due to founder variant p.(E519K) expanding the therapeutic potential

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

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

Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies

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

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

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