Research Explorer

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Researcher

Filip Van den Broeck

Publications & Research Data

Awards & Distinctions

20 Results

2025

A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Julio C Corral-SerranoVeronika VaclavikStijn Van de SompeleKarolina KaminskaKatarina JovanovicPascal EscherFilip Van Den BroeckFrancesca CancellieriVasileios ToulisBart Leroy et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

Karolina KaminskaFrancesca CancellieriMathieu QuinodozAbigail R. MoyeMiriam BauwensSiying LinLucas Janeschitz-KrieglTamar HaymanPilar Barberán-MartínezRegina Schlaeger et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Characterising the refractive error in paediatric patients with congenital stationary night blindness : a multicentre study

Austin D. IgelmanElizabeth WhiteAlaa TayyibLesley EverettAjoy VincentElise HeonChristina ZeitzMichel MichaelidesOmar A. MahrooMohamed Katta et al.

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR variant in the RDH12 gene

Manon BouckaertKyana Van AckerBirthe HilgenMaria GeorgiouFilip Van Den BroeckEdith De BruyckerAlfredo Dueñas ReyEmma DelanoteHanne LenaertsMelita Kaltak et al.

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)

Eline Van VoorenFilip Van Den BroeckEsperanza DaalMehrnaz GhazviniJulie De ZaeytijdBart LeroyMiriam BauwensElfride De Baere

A1 Journal Article in STEM CELL RESEARCH

Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A]; [806_810del] variants in the RDH12 gene

Manon BouckaertFilip Van Den BroeckM. GhazviniAlfredo Dueñas ReyHanne LenaertsAnnelies DheedeneKathleen ClaesElfride De BaereBart LeroyJulie De Zaeytijd et al.

A1 Journal Article in STEM CELL RESEARCH

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 Journal Article 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.

2024

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Cansu de MuijnckLonneke Haer-WigmanJudith A. M. van EverdingenTanya LushchykPam A. T. HeutinckMarieke F. van DoorenAnneke J. A. KievitVirginie J. M. VerhoevenMarleen E. H. SimonRosemarie A. Wasmann et al.

A1 Journal Article in SCIENTIFIC REPORTS

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 Journal Article in GENOME MEDICINE

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Manon BouckaertKyana Van AckerMaria GeorgiouFilip Van Den BroeckMargot De MoorEdith De BruyckerAlfredo Dueñas ReyEmma DelanoteHanne LenaertsMelita Kaltak et al.

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Manon BouckaertKyana Van AckerBirthe HilgenMaria GeorgiouFilip Van Den BroeckMargot De MoorEdith De BruyckerAlfredo Dueñas ReyEmma DelanoteHanne Lenaerts et al.

Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene

Manon BouckaertKyana Van AckerMaria GeorgiouFilip Van Den BroeckEdith De BruyckerAlfredo Dueñas ReyEmma DelanoteHanne LenaertsMelita KaltakElfride De Baere et al.

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

Miriam BauwensElifnaz CelikDinah ZurSiying LinMathieu QuinodozMichel MichaelidesAndrew R WebsterFilip Van Den BroeckBart LeroyLeah Rizel et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2023

Optic nerve involvement in CACNA1F-related disease : observations from a multicentric case series

Elisa MarzialiFilip Van Den BroeckSara BargiacchiPina FortunatoRoberto CaputoAndrea SodiJulie De ZaeytijdVittoria MurroDario Pasquale MuccioloDario Giorgio et al.

A1 Journal Article in OPHTHALMIC GENETICS

Paediatric cataract surgery with 27G vitrectomy instrumentation : the Ghent University Hospital experience

Hwei Wuen ChanFilip Van Den BroeckAxelle CoolsSOPHIE WALRAEDTInge JoniauHannah VerdinIrina BalikovaStefaan Van NuffelPatricia DelbekeElfride De Baere et al.

A1 Journal Article in FRONTIERS IN MEDICINE

Results of Belgian patients with RPE65-related inherited retinal dystrophy 6 months after treatment with voretigene neparvovec

Leen HertensCaroline Van CauwenberghFilip Van Den BroeckJulie SambaerManon Van HautePieter HertensElfride De BaereGeraldine AccouFanny NerinckxBart Leroy

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.

2019

Articulated instruments and 3D visualization : a synergy? : evaluation of execution time, errors, and visual fatigue

Frank DewaeleTim De PauwNicolaas LumenElke Van DaeleTjalina HamerlynckSteven WeyersIne StrubbeFilip Van Den BroeckThibaut Van ZeleDirk Van Roost et al.

A1 Journal Article in SURGICAL INNOVATION