Research Explorer

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Onderzoeker

Marieke De Bruyne

Publicaties & datasets

Prijzen & Erkenningen

78 Resultaten

2025

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Miriam BauwensVincent De ManIsabelle AudoIrina BalikovaWadih M. ZeinVasily SmirnovSebastian HeldSascha VermeerElke LoosJulie Jacob et al.

A1 Artikel in een tijdschrift in CLINICAL GENETICS

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

Jette J. BakhuizenFreerk van DijkSebastian B.B. BonLars T. van der VekenManon M.H. HuibersJoris M. van MontfransMarieke De BruyneBarbara De MoerlooseFilomeen HaerynckJan L.C. Loeffen et al.

A1 Artikel in een tijdschrift in EUROPEAN JOURNAL OF CANCER

Inherited retinal disease gene panel in posterior or panuveitis with dystrophic features

Stéphane AbramowiczAudrey MeunierDafina DraganovaLaure CaspersMarieke De BruyneStijn Van de SompeleElfride De BaereBart LeroyLaurence PostelmansFrançois Willermain

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

Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond

Elien BeylsEvi DuthooLynn BackersKarlien Claes[missing] RAPID CliniciansTessa KerreB. LambrechtLevi HosteB. MeertensT. Van Genechten et al.

A1 Artikel in een tijdschrift in JOURNAL OF CLINICAL IMMUNOLOGY

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

Evi DuthooElien BeylsLynn BackersThorkell GudjónssonPeiquan HuangLeander JonckheereSebastian RiemannBram PartonLikun DuVeronique Debacker et al.

A1 Artikel in een tijdschrift in JOURNAL OF EXPERIMENTAL MEDICINE

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

Eline Van VoorenFilip Van Den BroeckQuinten MahieuEline GeensMattias Van HeetveldeMarieke De BruyneStijn Van de SompeleSheetal UppalEugenia PoliakovClaire-Marie Dhaenens et al.

A1 Artikel in een tijdschrift in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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

Eline Van VoorenFilip Van Den BroeckQuinten MahieuEline GeensMattias Van HeetveldeMarieke De BruyneStijn Van de SompeleSheetal UppalEugenia PoliakovClaire-Marie Dhaenens et al.

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

Lieselot VinckeKristof Van SchilHamid AhmadiehAfrooz MoghaddasiHamideh SabbaghiNarsis DaftarianTahmineh MotevasseliLeila Javanparast SheykhaniMohammadreza DehghaniMohammad Yahya Vahidi Mehrjardi et al.

A1 Artikel in een tijdschrift in NPJ GENOMIC MEDICINE

2024

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Alfredo Dueñas ReyMarta del Pozo ValeroManon BouckaertKatherine A. WoodFilip Van Den BroeckMalena Daich VarelaHuw B. ThomasMattias Van HeetveldeMarieke De BruyneStijn Van de Sompele et al.

A1 Artikel in een tijdschrift in GENOME MEDICINE

Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin

Stéphane AbramowiczAudrey MeunierLaurence PostelmansLaure CaspersFrancis CorazzaMarieke De BruyneStijn Van de SompeleElfride De BaereBart LeroyFrançois Willermain et al.

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

Expanding molecular and clinical phenotype of Seckel syndrome : ATRIP deficient patient reveals novel insights in ATR signalling pathway

Kathleen ClaesLynn BackersElien BeylsEvi DuthooBram PartonVeronique DebackerKim De LeeneerMarieke De BruyneLevi HosteAns Baeyens et al.

Immunogenomics solves missing heritability and ends the diagnostic odyssey in RAG1-SCID

Marieke De BruyneLore PottieStijn Van de SompeleNancy De CabooterDelfien BogaertLevi HosteToon RosseelKim De LeeneerVictoria BordonJana Neirinck et al.

PTPN2 deficiency expands the monogenetic causes of dysregulated JAK/STAT signaling resulting in autoimmunity

Leslie NaesensBram MeertensLore PottieMarieke De BruyneCiel De VriendtTessa KerreSimon TavernierFilomeen Haerynck

Unveiling PTPN2 mutations in two families as a novel genetic driver fueling autoimmunity

Leslie NaesensBram MeertensMarieke De BruyneLore PottieCiel De VriendtTessa KerreSimon TavernierFilomeen Haerynck

2023

A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease

Alfredo Dueñas ReyManon BouckaertMarta del Pozo ValeroMarieke De BruyneMattias Van HeetveldeJamie EllingfordGavin ArnoAndrew WebsterCarmen AyusoCarlo Rivolta et al.

Central nervous system manifestations of LRBA deficiency : case report of two siblings and literature review

T. C. MangodtK. Vanden DriesscheK. K. NorgaN. MoesMarieke De BruyneFilomeen HaerynckLaura Teresa Bordon VieraA. C. JansenA. I. Jonckheere

A1 Artikel in een tijdschrift in BMC PEDIATRICS

Compendium of clinical variant classification for 2,246 unique ABCA4 variants to clarify variant pathogenicity in Stargardt disease using a modified ACMG/AMP framework

Stephanie CornelisMiriam BauwensLonneke Haer-WigmanMarieke De BruyneMadhulatha PantrangiElfride De BaereRobert B. HufnagelClaire-Marie DhaenensFrans P. M. Cremers

A1 Artikel in een tijdschrift in HUMAN MUTATION

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.

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

Deciphering the genetic architecture of inherited retinal diseases in the Iranian population by integrated exome sequencing

Miriam BauwensKristof Van SchilMarieke De BruyneMattias Van HeetveldeQuinten MahieuToon RosseelEbrahim Al-HajjSarah Van MalderenFatemeh SuriElfride De Baere

Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases

Marta del Pozo ValeroMiriam BauwensMarieke De BruyneFilip Van Den BroeckStephanie DulstQuinten QuintenAudrey MeunierThomy de RavelJoke RuysMattias Van Heetvelde et al.

Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases

Miriam BauwensMarta del Pozo ValeroMarieke De BruyneFilip Van Den BroeckStephanie DulstQuinten MahieuAudrey MeunierThomy de Ravel de l'ArgentièreJoke RuysMattias Van Heetvelde et al.

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 LAMA1 mutation

Nawid FaiziIngele CasteelsBruno TermotePaul CouckeElfride De BaereMarieke De BruyneIrina Balikova

A1 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

A1 Artikel in een tijdschrift in CLINICAL 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

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 DeclercqCedric BosteelsBastiaan MaesMarieke De BruyneDelfien BogaertVictor Bosteels et al.

A1 Artikel in een tijdschrift in FRONTIERS IN IMMUNOLOGY

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

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. HsuMaria Bordon Cueto De BraemErik 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.

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

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

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

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

The complex differential diagnosis underlying fungal infections : a clinical practice guideline regarding persistent, recurrent or invasive candidiasis

Levi HosteDelfien BogaertMarieke De BruyneMaria Bordon Cueto De BraemPetra SchelstraeteCarolien BonroySimon TavernierFilomeen Haerynck

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 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

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.

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 PhilippéMaria Bordon Cueto De BraemBart 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 PhilippéMaria Bordon Cueto De BraemBart 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 BaetsMaria Bordon Cueto De Braem 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