Research Explorer

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Researcher

Toon Rosseel

Publications & Research Data

Awards & Distinctions

63 Results

2025

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 Journal Article in NPJ GENOMIC MEDICINE

Unexpected high prevalence of focal facial dermal dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Aude BeyensStefanie van de VoordeMarta Guerreiro Santano Ramos Da SilvaSofie De MeulemeesterKoen DevriendtMarleen GoeteynSandra JanssensR. Frank KooyToon RosseelSofie Symoens et al.

A1 Journal Article in CLINICAL GENETICS

2024

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model

Tamara JaraysehSophie DebaenstHanna De SaffelToon RosseelMauro Alessio MilazzoJan Willem BekDavid M HudsonFilip Van NieuwerburghYannick GansemansIván Josipovic et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

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

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

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.

Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing and linkage analysis

Tamara JaraysehAdelbert De ClercqToon RosseelMauro Alessio MilazzoAndy WillaertPaul Coucke

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Nika SchuermansSalima El ChehadehDimitri HemelsoetJérémie GautheronMarie-Christine VantyghemSonia NouiouaMeriem TazirCorinne VigourouxMartine AuclairElke Bogaert et al.

A1 Journal Article in NATURE GENETICS

Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

Brecht GuillemynHanna De SaffelJan Willem BekPiyanoot TapaneeyaphanAdelbert De ClercqTamara JaraysehSophie DebaenstAndy WillaertRiet De RyckePeter H. Byers et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Unraveling the genetic basis of early-onset inherited retinal disease in a Saudi Arabian cohort reveals a novel RIMS2-related family

Basamat Almoallem MohammedMarta del Pozo ValeroLaila JeddawiKristof Van SchilToon RosseelSarah De JaegereBart LeroyKhalid EmaraFrauke CoppietersMiriam Bauwens et al.

2022

Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Nika SchuermansSalima El ChehadehDimitri HemelsoetElke BogaertElke DebackerePascale HilbertNike Van DoninckMarie-Caroline TaquetToon RosseelGriet De Clercq et al.

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.

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

Dealing with pseudogenes in in the next generation sequencing era

Kathleen ClaesToon RosseelKim De Leeneer

Bookchapter in Pseudogenes

Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing (WES) and linkage analysis

Tamara JaraysehAdelbert De ClercqToon RosseelMauro Alessio MilazzoAndy WillaertPaul Coucke

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 Journal Article in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

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

Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients

Greet WiemeJan KralToon RosseelPetra ZemankovaBram PartonMichal VockaMattias Van HeetveldePetra KleiblovaBettina BlaumeiserJana Soukupova et al.

Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients

Greet WiemeJan KralToon RosseelPetra ZemankovaBram PartonMichal VockaMattias Van HeetveldePetra KleiblovaBettina BlaumeiserJana Soukupova et al.

A1 Journal Article in CANCERS

2020

Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

Hannah VerdinToon RosseelSascha VermeerIrina BalikovaPhilippe KestelynColombine MeunierFrançoise MeireJulie Van De VeldeOlivier VanakkerJenneke Van Den Ende et al.

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Giulia AscariFrank PeelmanPietro FarinelliToon RosseelNina LambrechtsKirsten A. WunderlichMatias WagnerKonstantinos NikopoulosPernille MartensIrina Balikova et al.

A1 Journal Article in HUMAN MUTATION

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

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam BauwensAlejandro GarantoRiccardo SangermanoSarah NaessensNicole WeisschuhJulie De ZaeytijdMubeen KhanFrançoise SadlerIrina BalikovaCaroline Van Cauwenbergh et al.

A1 Journal Article in GENETICS IN MEDICINE

Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel

Greet WiemeToon RosseelBram PartonBettina BlaumeiserSabine TejparBruce PoppeKim De LeeneerKathleen Claes

Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel

Greet WiemeToon RosseelBram PartonBettina BlaumeiserJenneke van den EndeSabine TejparBruce PoppeKim De LeeneerKathleen Claes

Analysis of whole exome sequencing data with a panel of genes associated with intellectual disability and epilepsy in a diagnostic lab

Sarah VergultErika D'haenensMachteld BaetensFrauke CoppietersMaarten De SmetAnnelies DheedeneToon RosseelTom SanteBjörn Menten

Application of a custom designed broad cancer predisposition gene panel for the analysis of patients with a personal and/or family history of pancreatic cancer

Greet WiemeToon RosseelBram PartonBettina BlaumeiserJenneke van den EndeSabine TejparBruce PoppeKim De LeeneerKathleen Claes

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

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

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia AscariFrank PeelmanPietro FarinelliToon RosseelNina LambrechtsIrina BalikovaLara DeryckeGabriële HoltappelsOlga KryskoThalia Van Laethem et al.

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia AscariFrank PeelmanNina LambrechtsThalia Van LaethemToon RosseelPietro FarinelliDavid CreytensIrina BalikovaJan GerrisClaus Bachert et al.

2018

Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits

Mattias Van HeetveldeMieke Van BockstalBruce PoppeKathleen LambeinToon RosseelLilit AtanesyanDieter DeforceIvo Van Den BergheKim De LeeneerJo Van Dorpe et al.

A1 Journal Article in CANCER LETTERS

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

Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Greet WiemeToon RosseelBettina BlaumeiserJenneke van den EndeSabine TejparBruce PoppeKim De LeeneerKathleen Claes

Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Greet WiemeBruce PoppeToon RosseelKim De LeeneerKathleen Claes

Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Greet WiemeToon RosseelBettina BlaumeiserJenneke van den EndeSabine TejparBruce PoppeKim De LeeneerKathleen Claes

Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer

Greet WiemeToon RosseelBettina BlaumeiserJenneke van den EndeSabine TejparBruce PoppeKim De LeeneerKathleen Claes

Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients

Brecht GuillemynDelfien SyxToon RosseelH KayserliliAM Cueto-GonzálezL Van MaldergemBjörn MentenAnne De PaepePaul CouckeFransiska Malfait et al.

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11

Annelot BaertEva MachackovaIlse CoeneCarol CreminKristin TurnerCheryl Portigal-ToddMarie Jill AsratJennifer NukAllison MindlinSean Young et al.

A1 Journal Article in HUMAN MUTATION

2017

A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa

Annelies De JaegherSarah De JaegereToon RosseelSteve LefeverFrauke CoppietersKim De LeeneerElfride De Baere

In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations

Joni Van der MeulenBarbara DenysElien De LatterSteve LefeverToon RosseelWouter SteyaertGRETA VAN DER CRUYSSENIsabelle RottiersDavid CreytensJo Van Dorpe et al.

In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations

Joni Van der MeulenBarbara DenysElien De LatterSteve LefeverToon RosseelWouter SteyaertGRETA VAN DER CRUYSSENIsabelle RottiersDavid CreytensJo Van Dorpe et al.

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Dorien BaetensHans StoopFrank PeelmanAnne-Laure TodeschiniToon RosseelFrauke CoppietersReiner VeitiaLeendert LooijengaElfride De BaereMartine Cools

A1 Journal Article in GENETICS IN MEDICINE

2016

Complete coding sequences of one H9 and three H7 low-pathogenic influenza viruses circulating in wild birds in Belgium, 2009 to 2012

Steven Van BormToon RosseelSylvie MarchéMieke SteenselsDidier VangeluweAnnick LindenThierry van den BergBénédicte Lambrecht

A2 Journal Article in MICROBIOLOGY RESOURCE ANNOUNCEMENTS

Complete genome sequence of bovine polyomavirus type 1 from aborted cattle, isolated in Belgium in 2014

Steven Van BormToon RosseelIsabelle BehaeghelMarc SaulmontLaurent DeloozThierry PetitjeanElisabeth MathijsFrank Vandenbussche

A2 Journal Article in MICROBIOLOGY RESOURCE ANNOUNCEMENTS

Complete genome sequences of three African foot-and-mouth disease viruses from clinical samples isolated in 2009 and 2010

Steven Van BormToon RosseelAndy HaegemanMpolokang Elliot FanaLatoa SeokeJoseph HyeraGeorge MatlhoFrank VandenbusscheKris De Clercq

A4 Journal Article in GENOME ANNOUNCEMENTS

2015

Evaluation of convenient pretreatment protocols for RNA virus metagenomics in serum and tissue samples

Toon RosseelOrkun OzhelvaciGraham FreimanisSteven Van Borm

A1 Journal Article in JOURNAL OF VIROLOGICAL METHODS

Extensive genetic variability linked to IS26 insertions in the fljB promoter region of atypical monophasic variants of Salmonella enterica serovar Typhimurium

Cécile BolandSophie BertrandWesley MattheusKatelijne DierickVicky JassonToon RosseelSteven Van BormJacques MahillonPierre Wattiau

A1 Journal Article in APPLIED AND ENVIRONMENTAL MICROBIOLOGY

Full-genome sequencing of four bluetongue virus serotype 11 viruses

Frank VandenbusscheCorinne SailleauToon RosseelAlexandra DespratCyril ViarougeJ RichardsonMichael EschbaumerBernd HoffmannKris De ClercqEmmanuel Bréard et al.

A1 Journal Article in TRANSBOUNDARY AND EMERGING DISEASES

Genome sequencing by random priming methods for viral identification

Toon RosseelSteven Van BormHans Nauwynck

Next generation sequencing shows West Nile virus quasispecies diversification after a single passage in a carrion crow (Corvus corone) in vivo infection model

Maha DridiToon RosseelRichard OrtonPaul JohnsonSylvie LecollinetBenoît MuylkensBénédicte LambrechtSteven Van Borm

A1 Journal Article in JOURNAL OF GENERAL VIROLOGY

Next-generation sequencing in veterinary medicine : how can the massive amount of information arising from high-throughput technologies improve diagnosis, control, and management of infectious diseases?

Steven Van BormSándor BelákGraham FreimanisAlice FusaroFredrik GranbergDirk HöperDonald P KingIsabella MonneRichard OrtonToon Rosseel

Bookchapter in Veterinary infection biology : molecular diagnostics and high-throughput strategies

2014

False-positive results in metagenomic virus discovery: a strong case for follow-up diagnosis

Toon RosseelBart PardonKris De ClercqOrkun OzhelvaciSteven Van Borm

A1 Journal Article in TRANSBOUNDARY AND EMERGING DISEASES

2013

The origin of biased sequence depth in sequence-independent nucleic acid amplification and optimization for efficient massive parallel sequencing

Toon RosseelSteven Van BormFrank VandenbusscheBernd HoffmannThierry van den BergMartin BeerDirk Höper

A1 Journal Article in PLOS ONE

What's in a strain?: viral metagenomics identifies genetic variation and contaminating circoviruses in laboratory isolates of pigeon paramyxovirus type 1

Steven Van BormToon RosseelMieke SteenselsThierry van den BergBénédicte Lambrecht

A1 Journal Article in VIRUS RESEARCH

2012

DNase SISPA-next generation sequencing confirms Schmallenberg virus in Belgian field samples and identifies genetic variation in Europe

Toon RosseelMatthias ScheuchDirk HöperNick De ReggeAnn Brigitte CaijFrank VandenbusscheSteven Van Borm

A1 Journal Article in PLOS ONE

Phylogeographic analysis of avian influenza viruses isolated from Charadriiformes in Belgium confirms intercontinental reassortment in gulls

Steven Van BormToon RosseelDidier VangeluweFrank VandenbusscheThierry van den BergBénédicte Lambrecht

A1 Journal Article in ARCHIVES OF VIROLOGY

2011

Identification and complete genome sequencing of paramyxoviruses in mallard ducks (Anas platyrhynchos) using random access amplification and next generation sequencing technologies

Toon RosseelBenedicte LambrechtFrank VandenbusscheThierry van den BergSteven Van Borm

A1 Journal Article in VIROLOGY JOURNAL