Research Explorer

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Researcher

Mattias Van Heetvelde

35 Results

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 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

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

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

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

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

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

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