Research Explorer

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Researcher

Mattias Van Heetvelde

Publications & Research Data

Awards & Distinctions

48 Results

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 Journal Article in CLINICAL GENETICS

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.

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

2024

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform

Marta del Pozo ValeroBasamat Almoallem MohammedAlfredo Dueñas ReyQuinten MahieuMattias Van HeetveldeLaila JeddawiMiriam BauwensElfride De Baere

A1 Journal Article in CLINICAL 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

Juggling offsets unlocks RNA-seq tools for fast scalable differential usage, aberrant splicing and expression analyses

Alexandre SegersJeroen GilisMattias Van HeetveldeElfride De BaereLieven Clement

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

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.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Nafisa NuzhatKristof Van SchilSandra LiakopoulosMiriam BauwensAlfredo Dueñas ReyStephan KaesebergMelanie JaegerJason R. WillerJennifer WinterHanh M. Truong et al.

A1 Journal Article in JOURNAL OF CLINICAL INVESTIGATION

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

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

Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH

Tom Van HoordeFanny NerinckxElke O. KrepsDimitri RoelsPhilippe HuygheMattias Van HeetveldeHannah VerdinElfride De BaereIrina BalikovaBart Leroy

A1 Journal Article in OPHTHALMIC GENETICS

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 Journal Article 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 Journal Article 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.

Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene

Justine VandeputteMattias Van HeetveldeCaroline Van CauwenberghSara SenecaElfride De BaereBart LeroyJulie De Zaeytijd

A1 Journal Article in OPHTHALMIC GENETICS

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

Decreased DNA double‑strand break repair and enhanced chromosomal radiosensitivity in irradiated non‑tumorigenic human breast epithelial cells with a partial BRCA1 or BRCA2 knockdown

Annelot BaertMaria PalermoMattias Van HeetveldeBram VerstraeteJulie DepuydtJeroen VierstraeteJan PhilippéAnna SablinaGianpaolo PerlettiKathleen Claes et al.

A2 Journal Article in WORLD ACADEMY OF SCIENCES JOURNAL

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

miRNA expression profiles in BRCA1-associated breast cancers reveal upregulation of specific miRNAs in tumors lacking a clear second hit in a large proportion of the tumour

Mattias Van HeetveldeMieke R Van BockstalJo Van DorpeKim De LeeneerAnne VralKathleen Claes

Second hits in BRCA1- and BRCA2-associated breast and ovarian cancer : connecting coding to non-coding mechanisms of inactivation

Mattias Van HeetveldeKathleen ClaesAnne VralKim De Leeneer

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

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

miRNA expression profiles in BRCA1-associated breast cancers reveal upregulation of specific miRNAs in tumours lacking a clear second hit in a large proportion of the tumour cells

Mattias Van HeetveldeMieke R Van BockstalJo Van DorpeKim De LeeneerAnne VralKathleen Claes

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Timothy R RebbeckTara M FriebelEitan FriedmanUte HamannDezheng HuoAva KwongEdith OlahOlufunmilayo I. OlopadeAngela R SolanoSoo-Hwang Teo et al.

A1 Journal Article in HUMAN MUTATION

2017

Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCR

Mattias Van HeetveldeWouter Van LoockeWim TrypsteenAnnelot BaertKatrien VanderheydenBrecht CrombezJo VandesompeleKim De LeeneerKathleen Claes

A2 Journal Article in BIOMOLECULAR DETECTION AND QUANTIFICATION

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Catherine M PhelanKaroline B KuchenbaeckerJonathan P TyrerSiddhartha P KarKate LawrensonStacey J WinhamJoe DennisAilith PirieMarjorie J RigganGanna Chornokur et al.

A1 Journal Article in NATURE GENETICS

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.

Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores

Julie LecarpentierValentina SilvestriKaroline B KuchenbaeckerDaniel BarrowdaleJoe DennisLesley McGuffogPenny SoucyGoska LesliePiera RizzoloAnna Sara Navazio et al.

A1 Journal Article in JOURNAL OF CLINICAL ONCOLOGY

Second hit landscape in BRCA-associated breast cancer

Mattias Van HeetveldeMieke Van BockstalTrees LepezSteve LefeverLeen PietersKathleen LambeinMarleen PraetIvo Van Den BergheFrauke CoppietersNadine Van Roy et al.

Second hit landscape in BRCA1/2-associated breast cancer

Mattias Van HeetveldeMieke Van BockstalTrees LepezKathleen LambeinDieter DeforceAnne VralBruce PoppeKim De LeeneerJo Van DorpeKathleen Claes

2016

Thorough second hit analysis in BRCA1/2 associated breast cancer

Mattias Van HeetveldeTrees LepezLeen PietersSteve LefeverJo Van DorpeKathleen LambeinMarleen Praetivo Van Den BergheFrauke CoppietersJo Vandesompele et al.

Thorough second-hit analysis in BRCA1/2-associated breast cancer

Mattias Van HeetveldeTrees LepezLeen PietersSteve LefeverJo Van DorpeKathleen LambeinMarleen PraetIvo Van Den BergheFrauke CoppietersJo Vandesompele et al.

2015

Accurate quantification of transcripts : a RT-qPCR versus ddPCR comparison

Mattias Van HeetveldeWouter Van LoockeKim De LeeneerBrecht CrombezAnnelot BaertKatrien VanderheydenKathleen Claes

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Kim De LeeneerJan HellemansWouter SteyaertSteve LefeverInge VereeckeEveline DebalsBrecht CrombezMachteld BaetensMattias Van HeetveldeFrauke Coppieters et al.

A1 Journal Article in HUMAN MUTATION