Research Explorer

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Marieke De Bruyne

57 Resultaten

2023

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. PannemanRebekkah J. Hitti-MalinLara K. HoltesSuzanne E. de BruijnJanine ReurinkErica G. M. BoonenMuhammad Imran KhanManir AliSten AndréassonElfride De Baere et al.

U Artikel in een tijdschrift in Frontiers in Cell and Developmental Biology

2022

GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141

Leslie NaesensSantoshi MuppalaDhiraj AcharyaJosephine NemegeerDelfien BogaertJung-Hyun LeeKatrien StaesVeronique DebackerPieter De BleserMarieke De Bruyne et al.

A1 Artikel in een tijdschrift in SCIENCE IMMUNOLOGY

High myopia and vitreal veils in a patient with Poretti– Boltshauser syndrome due to a novel homozygous <i>LAMA1</i> mutation

Nawid FaiziIngele CasteelsBruno TermotePaul CouckeElfride De BaereMarieke De BruyneIrina Balikova

U Artikel in een tijdschrift in Ophthalmic Genetics

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

Giulia AscariNanna D. RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeGavin ArnoJulie JacobDavid CreytensJo Van Dorpe et al.

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 NaesensJosephine NemegeerFilip RoelensLore VallaeysMarije MeuwissenKatrien JanssensPATRICK VERLOOBenson OgunjimiDimitri HemelsoetLevi Hoste et al.

A1 Artikel in een tijdschrift in JOURNAL OF CLINICAL IMMUNOLOGY

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 StrubbeMarieke De BruyneUlrich PannickeElien BeylsBart VandekerckhoveGeorges LeclercqElfride De BaereVictoria BordonAnne VralKlaus Schwarz et al.

A1 Artikel in een tijdschrift in FRONTIERS IN IMMUNOLOGY

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 NaesensSantoshi MuppalaJung-Hyun LeeJosephine NemegeerDhiraj AcharyaDelfien BogaertMichiel van GentJens StaalKatrien StaesVeronique Debacker et al.

Integration of genomics and transcriptomics allows the identification of rare DNA damage defects in PID patients with a cancer predisposition

Lynn BackersBram PartonMattias Van HeetveldeMarieke De BruyneKim De LeeneerSimon TavernierAnne VralFilomeen HaerynckKathleen Claes

Integration of genomics and transcriptomics to identify DNA damage defects in PID patients prone to cancer

Lynn BackersBram PartonMattias Van HeetveldeMarieke De BruyneKim De LeeneerAnne VralFilomeen HaerynckKathleen Claes

Integration of genomics and transcriptomics to identify DNAdamage defects in PID patients with a cancer predisposition

Lynn BackersBram PartonMattias Van HeetveldeMarieke De BruyneKim De LeeneerAnne VralFilomeen HaerynckKathleen Claes

Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum

Julie De ZaeytijdCaroline Van CauwenberghMarieke De BruyneMattias Van HeetveldeElfride De BaereFrauke CoppietersBart Leroy

A1 Artikel in een tijdschrift in RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia AscariNanna RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeAlfredo Dueñas ReyGavin ArnoJulie JacobDavid Creytens et al.

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia AscariNanna D. RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMiriam BauwensMattias Van HeetveldeGavin ArnoJulie JacobDavid Creytens et al.

A1 Artikel in een tijdschrift in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss

Giulia AscariNanna D RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeAlfredo Dueñas ReyGavin ArnoJulie JacobDavid Creytens et al.

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

Julie De ZaeytijdFrauke CoppietersMarieke De BruyneJasper Van RoyenDimitri RoelsRani SixCaroline Van CauwenberghElfride De BaereBart Leroy

A1 Artikel in een tijdschrift in OPHTHALMIC GENETICS

Missing heritability in Bloom syndrome : First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

Lynn BackersBram PartonMarieke De BruyneSimon TavernierKris Van Den BogaertBart LambrechtFilomeen HaerynckKathleen Claes

Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene

Lynn BackersBram PartonMarieke De BruyneSimon TavernierKris Van Den BogaertBart LambrechtFilomeen HaerynckKathleen Claes

A1 Artikel in een tijdschrift in CLINICAL GENETICS

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 NaesensJosephine NemegeerFilip RoelensLore VallaeysMarije MeuwissenKatrien JanssensPATRICK VERLOOBenson OgunjimiDimitri HemelsoetProgram for Undiagnosed Rare Diseases (UD-PrOZA) et al.

Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

Ine StrubbeCaroline Van CauwenberghJulie De ZaeytijdSarah De JaegereMarieke De BruyneToon RosseelStijn Van de SompeleElfride De BaereBart Leroy

A1 Artikel in een tijdschrift in SCIENTIFIC REPORTS

2020

Case report : convalescent plasma, a targeted therapy for patients with CVID and severe COVID-19

Karel Van DammeSimon TavernierNele Van RoyElisabeth De LeeuwJozefien DeclercqCédric BosteelsBastiaan MaesMarieke De BruyneDelfien BogaertVictor Bosteels et al.

A1 Artikel in een tijdschrift in FRONTIERS IN IMMUNOLOGY

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Vivien BéziatSimon TavernierYin-Huai ChenCindy S. MaMarie MaternaArian LaurenceJens StaalDominik AschenbrennerLisa RoelsLisa Worley et al.

A1 Artikel in een tijdschrift in JOURNAL OF EXPERIMENTAL MEDICINE

Expect the unexpected : clinical case

Delfien BogaertMarieke De BruyneFrederic Rieux-LaucateElfride De BaereFilomeen Haerynck

First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation

Lynn BackersBram PartonStephanie VermeulenMarieke De BruyneSimon TavernierKris Van Den BogaertAnne VralAns BaeyensFilomeen HaerynckBart Lambrecht et al.

First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation

Lynn BackersBram PartonStephanie VermeulenMarieke De BruyneKris Van Den BogaertAnne VralAns BaeyensSimon TavernierFilomeen HaerynckKathleen Claes

GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner

Delfien BogaertGenevieve LaureysLeslie NaesensDominiek MazureMarieke De BruyneAmy P. HsuVictoria Bordon MariaErik WoutersSimon TavernierBart Lambrecht et al.

A1 Artikel in een tijdschrift in BRITISH JOURNAL OF HAEMATOLOGY

Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

Lynn BackersBram PartonMarieke De BruyneSimon TavernierKris Van Den BogaertBart LambrechtFilomeen HaerynckKathleen Claes

Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene

Lynn BackersBram PartonMarieke De BruyneSimon TavernierKris Van Den BogaertBart LambrechtFilomeen HaerynckKathleen Claes

Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing

Giulia AscariNanna D. RendtorffJulie De ZaeytijdValerie BaumontMarieke De BruyneMattias Van HeetveldeToon RosseelTim De PooterPeter De RijkWouter De Coster et al.

Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing

Giulia AscariNanna D. RendtorffJulie De ZaeytijdValerie BaumontMarieke De BruyneMattias Van HeetveldeToon RosseelTim De PooterPeter De RijkWouter De Coster et al.

Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing

Giulia AscariNanna D. RendtorffJulie JacobJulie De ZaeytijdValerie BaumontMarieke De BruyneToon RosseelMattias Van HeetveldeTim De PooterWouter De Coster et al.

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 BackersMarieke De BruyneSimon TavernierFilomeen HaerynckKathleen Claes

2019

'Every sweet has its sour' : rare skin lesions in a boy with combined immunodeficiency

Delfien BogaertMargo HagendorensMarieke De BruyneHilde LapeereAnnick CoventsElfride De BaereFrans De BaetsFilomeen Haerynck

A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Simon TavernierV AthanasopoulosPATRICK VERLOOG BehrensJens StaalDelfien BogaertLeslie NaesensMarieke De BruyneSofie Van GassenEef Parthoens et al.

A1 Artikel in een tijdschrift in NATURE COMMUNICATIONS

Congenital myeloperoxidase deficiency caused by a homozygous MPO splice site mutation in a patient with recurrent candida otomastoiditis

Frederic AckeDelfien BogaertHelen Van HoeckeKatrien BonteCarolien BonroyPetra SchelstraeteMarieke De BruyneElfride De BaereIngeborg DhoogeFilomeen Haerynck

Rare skin lesions in a boy with activated phosphoinositide 3-kinase delta syndrome

Delfien BogaertMarieke De BruyneMargo HagendorensHilde LapeereAnnick CoventsElfride De BaereFrans De BaetsFilomeen Haerynck

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 BackersMarieke De BruyneSimon TavernierFilomeen HaerynckKathleen Claes

2018

A CARD9 founder mutation disrupts NF-κB signaling by inhibiting BCL10 and MALT1 recruitment and signalosome formation

Marieke De BruyneLevi HosteDelfien BogaertLien Van den BosscheSimon TavernierEef ParthoensMélanie MigaudDeborah KonopnickiJean Cyr YombiBart Lambrecht et al.

A1 Artikel in een tijdschrift in FRONTIERS IN IMMUNOLOGY

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

Delfien BogaertHye Sun KuehnCarolien BonroyKatherine R CalvoJo DehoorneArnaud VanlanderMarieke De BruyneUrszula CytlakVenetia BigleyFrans De Baets et al.

A1 Artikel in een tijdschrift in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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 BruyneDelfien BogaertKoen VenkenLien Van den BosscheCarolien BonroyLisa RoelsSimon TavernierEls van de VijverAnn DriessenMarielle van Gijn et al.

A1 Artikel in een tijdschrift in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

When one rare disease hides another : Kartagener syndrome masking FMF

Levi HosteFrans De BaetsSabine Van daelePetra SchelstraeteMieke BoonMarieke De BruyneMelissa DullaersFrauke CoppietersFilomeen Haerynck

A1 Artikel in een tijdschrift in CLINICAL PEDIATRICS

2017

A CARD9 Turkisch founder mutation disrupts NF-κB signaling by inhibiting Bcl10 recruitment

Marieke De BruyneLevi HosteDelfien BogaertMélanie MigaudDeborah KonopnickiBart LambrechtRudi BeyaertElfride De BaereAnne PuelJean-Christophe Goffard et al.

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 BruyneDelfien BogaertLevi HosteMélanie MigaudJean-Christophe GoffardAnne PuelElfride De BaereFilomeen HaerynckMelissa Dullaers

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 BruyneDelfien BogaertLevi HosteMélanie MigaudJean-Christophe GoffardDeborah KonopnickiBart LambrechtRudi BeyaertElfride De BaereAnne Puel et al.

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 BruyneDelfien BogaertLevi HosteMélanie MigaudJean-Christophe GoffardDeborah KonopnickiBart LambrechtRudi BeyaertElfride De BaereAnne Puel et al.

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 BruyneLevi HosteDelfien BogaertMélanie MigaudJean-Christophe GoffardDeborah KonopnickiBart LambrechtRudi BeyaertElfride De BaereAnne Puel et al.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

Delfien BogaertMelissa DullaersHye Sun KuehnBart LeroyJulie E NiemelaHans De WildeSarah De SchryverMarieke De BruyneFrauke CoppietersBart Lambrecht et al.

A1 Artikel in een tijdschrift in SCIENTIFIC REPORTS

The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives

Delfien BogaertMarieke De BruyneVeronique DebackerPauline DepuydtKatleen De PreterCarolien BonroyJan PhilippéVictoria Bordon MariaBart LambrechtTessa Kerre et al.

A1 Artikel in een tijdschrift in HAEMATOLOGICA

The immunophenotypical fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives

Delfien BogaertMarieke De BruyneVeronique DebackerPauline DepuydtKatleen De PreterCarolien BonroyJan PhilippéVictoria Bordon MariaBart LambrechtTessa Kerre et al.

To B or not to B matured : a novel IKAROS haploinsufficiency kindred with incomplete penetrance both at clinical and cellular level

Delfien BogaertHye Sun KuehnCarolien BonroyKatherine CalvoJo DehoorneArnaud VanlanderMarieke De BruyneVenetia BigleyPetra SchelstraeteFrans De Baets et al.

To B or not to B matured : a novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B cell maturation defects

Delfien BogaertHye Sun KuehnCarolien BonroyKatherine CalvoJo DehoorneArnaud VanlanderPetra SchelstraeteMarieke De BruyneUrszula CytlakVenetia Bigley et al.

2016

Identification and characterization of RCBTB1 as new disease gene for isolated and syndromic retinal dystrophy

Giulia AscariFrauke CoppietersK DannhausenM KarlstetterK NikopoulosM XuMiriam BauwensMarieke De BruyneThalia Van LaethemF Meire et al.

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1 and possible implication in the ubiquitination pathway

Giulia AscariFrauke CoppietersK DannhausenM KarlstetterK NikopoulosM XuMiriam BauwensMarieke De BruyneThalia Van LaethemF Meire et al.

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination

Frauke CoppietersGiulia AscariKatharina DannhausenKonstantinos NikopoulosFrank PeelmanMarcus KarlstetterMingchu XuCécile BrachetIsabelle MeunierMiltiadis K Tsilimbaris et al.

A1 Artikel in een tijdschrift in AMERICAN JOURNAL OF HUMAN GENETICS

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, implicated in ubiquitination.

Giulia AscariFrauke CoppietersK DannhausenM KarlstetterK NikopoulosM XuMiriam BauwensMarieke De BruyneThalia Van LaethemF Meire et al.

JAK2 deficiency as a novel cause of impaired Th17 immunity

FILOMEEN HAERYNCKDelfien BogaertElfride De BaereKristof Van SchilFrauke CoppietersMarieke De BruyneMargot HagendorensTessa KerreFrans De BaetsVictoria Bordon Maria et al.

Recurrent cutaneous abscesses as the presenting manifestation of STAT1 gain-of-function mutation

Levi HosteMarieke De BruyneDelfien BogaertElfride De BaereCarolien BonroyPetra SchelstraeteMelissa DullaersTom VercruysseFilomeen Haerynck

2015

Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1

Frauke CoppietersAnne Laure TodeschiniTakuro FujimakiAnnelot BaertMarieke De BruyneCaroline Van CauwenberghHannah VerdinMiriam BauwensMaté OngenaertMineo Kondo et al.

A1 Artikel in een tijdschrift in HUMAN MUTATION