Research Explorer

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Researcher

Stijn Van de Sompele

Publications & Research Data

Awards & Distinctions

48 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

Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice

Andreea D. PantiruStijn Van de SompeleClemence LigneulCamille ChatelainChristophe BarreaJason P. LerchBeatrice M. FilippiSerpil AlkanElfride De BaereJamie Johnston et al.

A1 Journal Article in MOLECULAR AUTISM

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

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

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 Journal Article in CLINICAL GENETICS

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

Filip Van Den BroeckEline Van VoorenManon Van HauteMarieke De BruyneStijn Van de SompeleMattias Van HeetveldeQuinten MahieuSheetal UppalEugenia PoliakovT. Michael Redmond et al.

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 Journal Article in RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

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

A multi-omics approach increases the diagnostic yield 'beyond the exome' in unsolved patients with inherited eye diseases

Miriam BauwensMarta del Pozo ValeroMarieke De BruyneFilip Van Den BroeckQuinten MahieuMattias Van HeetveldeStijn Van de SompeleAlfredo Dueñas ReyAudrey MeunierThomy de Ravel et al.

A novel RPE65-related dominant retinopathy caused by founder variant c.1555G>A p.(Glu519Lys) enriched in Belgian patients with a recognizable pattern dystrophy spectrum

Eline Van VoorenFilip Van Den BroeckEline GeensMarieke De BruyneStijn Van de SompeleQuinten MahieuSheetal UppalEugenia PoliakovMichael T. RedmondJulie De Zaeytijd et al.

Closing the gap: overcoming the challenges of RPGR ORF15 sequencing, a target for gene therapy of X-linked retinitis pigmentosa

Stijn Van de SompeleMarieke De BruyneMattias Van HeetveldeToon RosseelBart LeroyJulie De ZaeytijdBrecht GuillemynKathleen ClaesKim De LeeneerMiriam Bauwens et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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

Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haeneVictor Lopez SorianoPedro Manuel Martínez-GarcíaSoraya KalayanamontriAlfredo Dueñas ReyAna Sousa-OrtegaSilvia NaranjoStijn Van de SompeleLies VantommeQuinten Mahieu et al.

A1 Journal Article in GENOME BIOLOGY

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 Journal Article in RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

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.

2023

An integrated approach using multi-omics data to dissect cis-regulatory role of ultraconserved non-coding elements (UCNEs) in human retina

Victor Lopez SorianoAlfredo Dueñas ReyStijn Van de SompeleFrauke CoppietersAndrew WebsterMiriam BauwensElfride De Baere

Comparative 3D genome analysis between neural retina and RPE reveals diferential cis-regulatory interactions at retinal disease loci

Eva D'haeneVictor Lopez SorianoPedro Manuel Martinez-GarciaSoraya KalayanamontriAlfredo Dueñas ReyAna Sousa-OrtegaSilvia NaranjoStijn Van de SompeleLies VantommeQuinten Mahieu et al.

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haeneVictor Lopez SorianoPedro Manuel Martínez-GarcíaSoraya KalayanamontriAlfredo Dueñas ReyAna Sousa-OrtegaSilvia NaranjoStijn Van de SompeleLies VantommeQuinten Mahieu et al.

Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies

Stijn Van de SompeleCaroline Van CauwenberghMarjolein CarronAlfredo Dueñas ReyFrauke CoppietersToon RosseelHong TranRobrecht CannoodtThalia Van LaethemBrecht Guillemyn et al.

New noncoding base pair mutation at the identical locus as the original NCMD/MCDR1 in a Mexican family, suggesting a mutational hotspot

Kent W. SmallStijn Van de SompeleJessica AvetisjanNitin UdarSteven AgemyElfride De BaereFadi S. Shaya

A2 Journal Article in JOURNAL OF VITREORETINAL DISEASES

2022

Expanding the coding and non-coding genomic landscape of genetic eye diseases

Stijn Van de SompeleElfride De BaereFrauke CoppietersKris Vleminckx

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de SompeleKent W. SmallMünevver Burcu CicekdalVictor Lopez SorianoEva D'haeneFadi S. ShayaSteven AgemyThijs Van der SnicktAlfredo Dueñas ReyToon Rosseel et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de SompeleKent W. SmallMünevver Burcu CicekdalVictor Lopez SorianoEva D'haeneFadi S. ShayaSteven AgemyThijs Van der SnicktAlfredo Dueñas ReyToon Rosseel et al.

2021

A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)

Kent W. SmallStijn Van de SompeleKaren NuytemansAndrea VincentOzge Ozalp YuregirEmine CilogluCahfer SariyildizToon RosseelJessica AvetisjanNitin Udar et al.

A1 Journal Article in MOLECULAR VISION

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 Journal Article in SCIENTIFIC REPORTS

2020

Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Stijn Van de SompeleThijs Van der SnicktEva D'haeneSarah VergultPetra LiskovaCarlo RivoltaJenneke van den EndeArthur BergenIrina BalikovaJulie De Zaeytijd et al.

Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Stijn Van de SompeleThijs Van der SnicktEva D'haeneSarah VergultPetra LiskovaCarlo RivoltaJenneke Van den EndeArthur A. BergenIrina BalikovaJulie De Zaeytijd et al.

Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Stijn Van de SompeleThijs Van der SnicktEva D'haeneSarah VergultPetra LiskovaCarlo RivoltaJenneke van den EndeArthur A. BergenIrina BalikovaJulie De Zaeytijd et al.

2019

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Stijn Van de SompeleClaire SmithMarianthi KaraliMarta CortonKristof Van SchilFrank PeelmanTimothy CherryToon RosseelHannah VerdinJulien Derolez et al.

A1 Journal Article in GENETICS IN MEDICINE

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (vol 21, pg 1319, 2019)

Stijn Van de SompeleClaire SmithMarianthi KaraliMarta CortonKristof Van SchilFrank PeelmanTimothy CherryToon RosseelHannah VerdinJulien Derolez et al.

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes

Stijn Van de SompeleKristof Van SchilCaroline Van CauwenberghToon RosseelSarah De JaegereThalia Van LaethemIrina BalikovaBart LeroyFrauke CoppietersElfride De Baere

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copynumber variations (vol 20, pg 202, 2018)

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronAlexander AslanidisCaroline Van CauwenberghAnja K. MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

2018

Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease

Stijn Van de SompeleClaire SmithMarianthi KaraliMarta CortonKristof Van SchilFrank PeelmanTimothy CherryToon RosseelHannah VerdinJulien Derolez et al.

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes

Stijn Van de SompeleKristof Van SchilCaroline Van CauwenberghToon RosseelSarah De JaegereThalia Van LaethemIrina BalikovaBart LeroyElfride De BaereFrauke Coppieters

Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes

Kristof Van SchilSarah NaessensStijn Van de SompeleNuria Gruartmoner RouraMarjolein CarronKatharina DannhausenSarah De JaegereMaxim VanpanteghemFrauke CoppietersMarcus Karlstetter et al.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronAlexander AslanidisCaroline Van CauwenberghAnja Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

A1 Journal Article in GENETICS IN MEDICINE

2017

Functional characterization of a novel non-coding mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome

Stijn Van de SompeleLucie PécheuxJorge CousoAudrey MeunierMayka SanchezElfride De Baere

A1 Journal Article in SCIENTIFIC REPORTS

Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes

Kristof Van SchilSarah NaessensStijn Van de SompeleNuria Gruartmoner RouraMarjolein CarronKatharina DannhausenSarah De JaegereMaxim VanpanteghemFrauke CoppietersMarcus Karlstetter et al.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronAlexander AslanidisCaroline Van CauwenberghAnja Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van SchilSarah NaessensStijn Van de SompeleMarjolein CarronAlexander AslanidisCaroline Van CauwenberghAnne Kathrin MayerMattias Van HeetveldeMiriam BauwensHannah Verdin et al.

Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility

Giulia AscariStijn Van de SompeleLara DeryckeGabriële HoltappelsOlga KryskoJo Van DorpeDavid CreytensThalia Van LaethemIrina BalikovaJan Gerris et al.

Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility.

Giulia AscariStijn Van de SompeleLara DeryckeGabriële HoltappelsOlga KryskoJo Van DorpeDavid CreytensThalia Van LaethemIrina BalikovaJan Gerris et al.

Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome

Stijn Van de SompeleAudrey MeunierLucie PécheuxElfride De Baere

Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome

Stijn Van de SompeleAudrey MeunierLucie PécheuxElfride De Baere

2016

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghAnja Kathrin MayerSusanne KohlBart LeroyElfride De Baere

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghAnja Kathrin MayerSusanne KohlBart LeroyElfride De Baere

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghAnja Kathrin MayerSusanne KohlBart LeroyElfride De Baere

Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms

Kristof Van SchilSarah NaessensStijn Van de SompeleMiriam BauwensHannah VerdinCaroline Van CauwenberghAnja Kathrin MayerSusanne KohlBart LeroyElfride De Baere