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Researcher
Marieke De Bruyne
Profile
Projects
Publications
Activities
Awards & Distinctions
57
Results
2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Daan M. Panneman
Rebekkah J. Hitti-Malin
Lara K. Holtes
Suzanne E. de Bruijn
Janine Reurink
Erica G. M. Boonen
Muhammad Imran Khan
Manir Ali
Sten Andréasson
Elfride De Baere
et al.
A1
Journal Article
in
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
2023
2022
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141
Leslie Naesens
Santoshi Muppala
Dhiraj Acharya
Josephine Nemegeer
Delfien Bogaert
Jung-Hyun Lee
Katrien Staes
Veronique Debacker
Pieter De Bleser
Marieke De Bruyne
et al.
A1
Journal Article
in
SCIENCE IMMUNOLOGY
2022
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
Giulia Ascari
Nanna D. Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Mattias Van Heetvelde
Gavin Arno
Julie Jacob
David Creytens
Jo Van Dorpe
et al.
C3
Conference
2022
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
Josephine Nemegeer
Filip Roelens
Lore Vallaeys
Marije Meuwissen
Katrien Janssens
PATRICK VERLOO
Benson Ogunjimi
Dimitri Hemelsoet
Levi Hoste
et al.
A1
Journal Article
in
JOURNAL OF CLINICAL IMMUNOLOGY
2022
2021
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
Marieke De Bruyne
Ulrich Pannicke
Elien Beyls
Bart Vandekerckhove
Georges Leclercq
Elfride De Baere
Victoria Bordon
Anne Vral
Klaus Schwarz
et al.
A1
Journal Article
in
FRONTIERS IN IMMUNOLOGY
2021
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
Santoshi Muppala
Jung-Hyun Lee
Josephine Nemegeer
Dhiraj Acharya
Delfien Bogaert
Michiel van Gent
Jens Staal
Katrien Staes
Veronique Debacker
et al.
C3
Conference
2021
Integration of genomics and transcriptomics allows the identification of rare DNA damage defects in PID patients with a cancer predisposition
Lynn Backers
Bram Parton
Mattias Van Heetvelde
Marieke De Bruyne
Kim De Leeneer
Simon Tavernier
Anne Vral
Filomeen Haerynck
Kathleen Claes
C3
Conference
2021
Integration of genomics and transcriptomics to identify DNA damage defects in PID patients prone to cancer
Lynn Backers
Bram Parton
Mattias Van Heetvelde
Marieke De Bruyne
Kim De Leeneer
Anne Vral
Filomeen Haerynck
Kathleen Claes
C3
Conference
2021
Integration of genomics and transcriptomics to identify DNAdamage defects in PID patients with a cancer predisposition
Lynn Backers
Bram Parton
Mattias Van Heetvelde
Marieke De Bruyne
Kim De Leeneer
Anne Vral
Filomeen Haerynck
Kathleen Claes
C3
Conference
2021
Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum
Julie De Zaeytijd
Caroline Van Cauwenbergh
Marieke De Bruyne
Mattias Van Heetvelde
Elfride De Baere
Frauke Coppieters
Bart Leroy
A1
Journal Article
in
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
2021
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
Giulia Ascari
Nanna Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Mattias Van Heetvelde
Alfredo Dueñas Rey
Gavin Arno
Julie Jacob
David Creytens
et al.
C3
Conference
2021
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
Giulia Ascari
Nanna D. Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Miriam Bauwens
Mattias Van Heetvelde
Gavin Arno
Julie Jacob
David Creytens
et al.
A1
Journal Article
in
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
2021
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss
Giulia Ascari
Nanna D Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Mattias Van Heetvelde
Alfredo Dueñas Rey
Gavin Arno
Julie Jacob
David Creytens
et al.
C3
Conference
2021
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
Frauke Coppieters
Marieke De Bruyne
Jasper Van Royen
Dimitri Roels
Rani Six
Caroline Van Cauwenbergh
Elfride De Baere
Bart Leroy
A1
Journal Article
in
OPHTHALMIC GENETICS
2021
Missing heritability in Bloom syndrome : First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
Lynn Backers
Bram Parton
Marieke De Bruyne
Simon Tavernier
Kris Van Den Bogaert
Bart Lambrecht
Filomeen Haerynck
Kathleen Claes
C3
Conference
2021
Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene
Lynn Backers
Bram Parton
Marieke De Bruyne
Simon Tavernier
Kris Van Den Bogaert
Bart Lambrecht
Filomeen Haerynck
Kathleen Claes
A1
Journal Article
in
CLINICAL GENETICS
2021
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
Josephine Nemegeer
Filip Roelens
Lore Vallaeys
Marije Meuwissen
Katrien Janssens
PATRICK VERLOO
Benson Ogunjimi
Dimitri Hemelsoet
Program for Undiagnosed Rare Diseases (UD-PrOZA)
et al.
C3
Conference
2021
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
Ine Strubbe
Caroline Van Cauwenbergh
Julie De Zaeytijd
Sarah De Jaegere
Marieke De Bruyne
Toon Rosseel
Stijn Van de Sompele
Elfride De Baere
Bart Leroy
A1
Journal Article
in
SCIENTIFIC REPORTS
2021
2020
Case report : convalescent plasma, a targeted therapy for patients with CVID and severe COVID-19
Karel Van Damme
Simon Tavernier
Nele Van Roy
Elisabeth De Leeuw
Jozefien Declercq
Cédric Bosteels
Bastiaan Maes
Marieke De Bruyne
Delfien Bogaert
Victor Bosteels
et al.
A1
Journal Article
in
FRONTIERS IN IMMUNOLOGY
2020
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
Vivien Béziat
Simon Tavernier
Yin-Huai Chen
Cindy S. Ma
Marie Materna
Arian Laurence
Jens Staal
Dominik Aschenbrenner
Lisa Roels
Lisa Worley
et al.
A1
Journal Article
in
JOURNAL OF EXPERIMENTAL MEDICINE
2020
Expect the unexpected : clinical case
Delfien Bogaert
Marieke De Bruyne
Frederic Rieux-Laucate
Elfride De Baere
Filomeen Haerynck
C3
Conference
2020
First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation
Lynn Backers
Bram Parton
Stephanie Vermeulen
Marieke De Bruyne
Kris Van Den Bogaert
Anne Vral
Ans Baeyens
Simon Tavernier
Filomeen Haerynck
Kathleen Claes
C3
Conference
2020
First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation
Lynn Backers
Bram Parton
Stephanie Vermeulen
Marieke De Bruyne
Simon Tavernier
Kris Van Den Bogaert
Anne Vral
Ans Baeyens
Filomeen Haerynck
Bart Lambrecht
et al.
C3
Conference
2020
GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner
Delfien Bogaert
Genevieve Laureys
Leslie Naesens
Dominiek Mazure
Marieke De Bruyne
Amy P. Hsu
Victoria Bordon Maria
Erik Wouters
Simon Tavernier
Bart Lambrecht
et al.
A1
Journal Article
in
BRITISH JOURNAL OF HAEMATOLOGY
2020
Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
Lynn Backers
Bram Parton
Marieke De Bruyne
Simon Tavernier
Kris Van Den Bogaert
Bart Lambrecht
Filomeen Haerynck
Kathleen Claes
C3
Conference
2020
Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
Lynn Backers
Bram Parton
Marieke De Bruyne
Simon Tavernier
Kris Van Den Bogaert
Bart Lambrecht
Filomeen Haerynck
Kathleen Claes
C3
Conference
2020
Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
Giulia Ascari
Nanna D. Rendtorff
Julie De Zaeytijd
Valerie Baumont
Marieke De Bruyne
Mattias Van Heetvelde
Toon Rosseel
Tim De Pooter
Peter De Rijk
Wouter De Coster
et al.
C3
Conference
2020
Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
Giulia Ascari
Nanna D. Rendtorff
Julie De Zaeytijd
Valerie Baumont
Marieke De Bruyne
Mattias Van Heetvelde
Toon Rosseel
Tim De Pooter
Peter De Rijk
Wouter De Coster
et al.
C3
Conference
2020
Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing
Giulia Ascari
Nanna D. Rendtorff
Julie Jacob
Julie De Zaeytijd
Valerie Baumont
Marieke De Bruyne
Toon Rosseel
Mattias Van Heetvelde
Tim De Pooter
Wouter De Coster
et al.
C3
Conference
2020
cDNA and targeted RNA sequencing to unravel hidden genetic defects in PID patients with only one-disease related variant in genes with recessive inheritance
Lynn Backers
Marieke De Bruyne
Simon Tavernier
Filomeen Haerynck
Kathleen Claes
C3
Conference
2020
2019
'Every sweet has its sour' : rare skin lesions in a boy with combined immunodeficiency
Delfien Bogaert
Margo Hagendorens
Marieke De Bruyne
Hilde Lapeere
Annick Covents
Elfride De Baere
Frans De Baets
Filomeen Haerynck
C3
Conference
2019
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation
Simon Tavernier
V Athanasopoulos
PATRICK VERLOO
G Behrens
Jens Staal
Delfien Bogaert
Leslie Naesens
Marieke De Bruyne
Sofie Van Gassen
Eef Parthoens
et al.
A1
Journal Article
in
NATURE COMMUNICATIONS
2019
Congenital myeloperoxidase deficiency caused by a homozygous MPO splice site mutation in a patient with recurrent candida otomastoiditis
Frederic Acke
Delfien Bogaert
Helen Van Hoecke
Katrien Bonte
Carolien Bonroy
Petra Schelstraete
Marieke De Bruyne
Elfride De Baere
Ingeborg Dhooge
Filomeen Haerynck
C3
Conference
2019
Rare skin lesions in a boy with activated phosphoinositide 3-kinase delta syndrome
Delfien Bogaert
Marieke De Bruyne
Margo Hagendorens
Hilde Lapeere
Annick Covents
Elfride De Baere
Frans De Baets
Filomeen Haerynck
C3
Conference
2019
cDNA and targeted RNA sequencing to unravel hidden genetic defects in PID patients with only one-disease related variant in genes with recessive inheritance
Lynn Backers
Marieke De Bruyne
Simon Tavernier
Filomeen Haerynck
Kathleen Claes
C3
Conference
2019
2018
A CARD9 founder mutation disrupts NF-κB signaling by inhibiting BCL10 and MALT1 recruitment and signalosome formation
Marieke De Bruyne
Levi Hoste
Delfien Bogaert
Lien Van den Bossche
Simon Tavernier
Eef Parthoens
Mélanie Migaud
Deborah Konopnicki
Jean Cyr Yombi
Bart Lambrecht
et al.
A1
Journal Article
in
FRONTIERS IN IMMUNOLOGY
2018
A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects
Delfien Bogaert
Hye Sun Kuehn
Carolien Bonroy
Katherine R Calvo
Jo Dehoorne
Arnaud Vanlander
Marieke De Bruyne
Urszula Cytlak
Venetia Bigley
Frans De Baets
et al.
A1
Journal Article
in
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
2018
A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity
Marieke De Bruyne
Delfien Bogaert
Koen Venken
Lien Van den Bossche
Carolien Bonroy
Lisa Roels
Simon Tavernier
Els van de Vijver
Ann Driessen
Marielle van Gijn
et al.
A1
Journal Article
in
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
2018
The complex differential diagnosis underlying fungal infections : a clinical practice guideline regarding persistent, recurrent or invasive candidiasis
Levi Hoste
Delfien Bogaert
Marieke De Bruyne
Victoria Bordon Maria
Petra Schelstraete
Carolien Bonroy
Simon Tavernier
Filomeen Haerynck
C3
Conference
2018
When one rare disease hides another : Kartagener syndrome masking FMF
Levi Hoste
Frans De Baets
Sabine Van daele
Petra Schelstraete
Mieke Boon
Marieke De Bruyne
Melissa Dullaers
Frauke Coppieters
Filomeen Haerynck
A1
Journal Article
in
CLINICAL PEDIATRICS
2018
2017
A CARD9 Turkisch founder mutation disrupts NF-κB signaling by inhibiting Bcl10 recruitment
Marieke De Bruyne
Levi Hoste
Delfien Bogaert
Mélanie Migaud
Deborah Konopnicki
Bart Lambrecht
Rudi Beyaert
Elfride De Baere
Anne Puel
Jean-Christophe Goffard
et al.
C3
Conference
2017
A CARD9 founder mutation p.Arg70Trp in Belgian and French patients of Turkish origin with a spectrum of chronic mucocutaneous and invasive fungal infections
Marieke De Bruyne
Delfien Bogaert
Levi Hoste
Mélanie Migaud
Jean-Christophe Goffard
Anne Puel
Elfride De Baere
Filomeen Haerynck
Melissa Dullaers
C3
Conference
2017
CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
Marieke De Bruyne
Delfien Bogaert
Levi Hoste
Mélanie Migaud
Jean-Christophe Goffard
Deborah Konopnicki
Bart Lambrecht
Rudi Beyaert
Elfride De Baere
Anne Puel
et al.
C3
Conference
2017
CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
Marieke De Bruyne
Delfien Bogaert
Levi Hoste
Mélanie Migaud
Jean-Christophe Goffard
Deborah Konopnicki
Bart Lambrecht
Rudi Beyaert
Elfride De Baere
Anne Puel
et al.
C3
Conference
2017
CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
Marieke De Bruyne
Levi Hoste
Delfien Bogaert
Mélanie Migaud
Jean-Christophe Goffard
Deborah Konopnicki
Bart Lambrecht
Rudi Beyaert
Elfride De Baere
Anne Puel
et al.
C3
Conference
2017
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
Delfien Bogaert
Melissa Dullaers
Hye Sun Kuehn
Bart Leroy
Julie E Niemela
Hans De Wilde
Sarah De Schryver
Marieke De Bruyne
Frauke Coppieters
Bart Lambrecht
et al.
A1
Journal Article
in
SCIENTIFIC REPORTS
2017
The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives
Delfien Bogaert
Marieke De Bruyne
Veronique Debacker
Pauline Depuydt
Katleen De Preter
Carolien Bonroy
Jan Philippé
Victoria Bordon Maria
Bart Lambrecht
Tessa Kerre
et al.
A1
Journal Article
in
HAEMATOLOGICA
2017
The immunophenotypical fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives
Delfien Bogaert
Marieke De Bruyne
Veronique Debacker
Pauline Depuydt
Katleen De Preter
Carolien Bonroy
Jan Philippé
Victoria Bordon Maria
Bart Lambrecht
Tessa Kerre
et al.
C3
Conference
2017
To B or not to B matured : a novel IKAROS haploinsufficiency kindred with incomplete penetrance both at clinical and cellular level
Delfien Bogaert
Hye Sun Kuehn
Carolien Bonroy
Katherine Calvo
Jo Dehoorne
Arnaud Vanlander
Marieke De Bruyne
Venetia Bigley
Petra Schelstraete
Frans De Baets
et al.
C3
Conference
2017
To B or not to B matured : a novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B cell maturation defects
Delfien Bogaert
Hye Sun Kuehn
Carolien Bonroy
Katherine Calvo
Jo Dehoorne
Arnaud Vanlander
Petra Schelstraete
Marieke De Bruyne
Urszula Cytlak
Venetia Bigley
et al.
C3
Conference
2017
2016
Identification and characterization of RCBTB1 as new disease gene for isolated and syndromic retinal dystrophy
Giulia Ascari
Frauke Coppieters
K Dannhausen
M Karlstetter
K Nikopoulos
M Xu
Miriam Bauwens
Marieke De Bruyne
Thalia Van Laethem
F Meire
et al.
C3
Conference
2016
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1 and possible implication in the ubiquitination pathway
Giulia Ascari
Frauke Coppieters
K Dannhausen
M Karlstetter
K Nikopoulos
M Xu
Miriam Bauwens
Marieke De Bruyne
Thalia Van Laethem
F Meire
et al.
C3
Conference
2016
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
Frauke Coppieters
Giulia Ascari
Katharina Dannhausen
Konstantinos Nikopoulos
Frank Peelman
Marcus Karlstetter
Mingchu Xu
Cécile Brachet
Isabelle Meunier
Miltiadis K Tsilimbaris
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2016
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, implicated in ubiquitination.
Giulia Ascari
Frauke Coppieters
K Dannhausen
M Karlstetter
K Nikopoulos
M Xu
Miriam Bauwens
Marieke De Bruyne
Thalia Van Laethem
F Meire
et al.
C3
Conference
2016
JAK2 deficiency as a novel cause of impaired Th17 immunity
FILOMEEN HAERYNCK
Delfien Bogaert
Elfride De Baere
Kristof Van Schil
Frauke Coppieters
Marieke De Bruyne
Margot Hagendorens
Tessa Kerre
Frans De Baets
Victoria Bordon Maria
et al.
C3
Conference
2016
Recurrent cutaneous abscesses as the presenting manifestation of STAT1 gain-of-function mutation
Levi Hoste
Marieke De Bruyne
Delfien Bogaert
Elfride De Baere
Carolien Bonroy
Petra Schelstraete
Melissa Dullaers
Tom Vercruysse
Filomeen Haerynck
C3
Conference
2016
2015
Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1
Frauke Coppieters
Anne Laure Todeschini
Takuro Fujimaki
Annelot Baert
Marieke De Bruyne
Caroline Van Cauwenbergh
Hannah Verdin
Miriam Bauwens
Maté Ongenaert
Mineo Kondo
et al.
A1
Journal Article
in
HUMAN MUTATION
2015