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Researcher
Mattias Van Heetvelde
Profile
Projects
Publications
Activities
Awards & Distinctions
35
Results
2022
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
Giulia Ascari
Nanna D. Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Mattias Van Heetvelde
Gavin Arno
Julie Jacob
David Creytens
Jo Van Dorpe
et al.
C3
Conference
2022
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Stijn Van de Sompele
Kent W. Small
Münevver Burcu Cicekdal
Victor Lopez Soriano
Eva D'haene
Fadi S. Shaya
Steven Agemy
Thijs Van der Snickt
Alfredo Dueñas Rey
Toon Rosseel
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2022
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 Sompele
Kent W. Small
Münevver Burcu Cicekdal
Victor Lopez Soriano
Eva D'haene
Fadi S. Shaya
Steven Agemy
Thijs Van der Snickt
Alfredo Dueñas Rey
Toon Rosseel
et al.
Preprint
2022
2021
Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH
Tom Van Hoorde
Fanny Nerinckx
Elke kreps
Dimitri Roels
Philippe Huyghe
Mattias Van Heetvelde
Hannah Verdin
Elfride De Baere
Irina Balikova
Bart Leroy
A1
Journal Article
in
OPHTHALMIC GENETICS
2021
Integration of genomics and transcriptomics allows the identification of rare DNA damage defects in PID patients with a cancer predisposition
Lynn Backers
Bram Parton
Mattias Van Heetvelde
Marieke De Bruyne
Kim De Leeneer
Simon Tavernier
Anne Vral
Filomeen Haerynck
Kathleen Claes
C3
Conference
2021
Integration of genomics and transcriptomics to identify DNA damage defects in PID patients prone to cancer
Lynn Backers
Bram Parton
Mattias Van Heetvelde
Marieke De Bruyne
Kim De Leeneer
Anne Vral
Filomeen Haerynck
Kathleen Claes
C3
Conference
2021
Integration of genomics and transcriptomics to identify DNAdamage defects in PID patients with a cancer predisposition
Lynn Backers
Bram Parton
Mattias Van Heetvelde
Marieke De Bruyne
Kim De Leeneer
Anne Vral
Filomeen Haerynck
Kathleen Claes
C3
Conference
2021
Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum
Julie De Zaeytijd
Caroline Van Cauwenbergh
Marieke De Bruyne
Mattias Van Heetvelde
Elfride De Baere
Frauke Coppieters
Bart Leroy
A1
Journal Article
in
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
2021
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
Giulia Ascari
Nanna Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Mattias Van Heetvelde
Alfredo Dueñas Rey
Gavin Arno
Julie Jacob
David Creytens
et al.
C3
Conference
2021
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
Giulia Ascari
Nanna D. Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Miriam Bauwens
Mattias Van Heetvelde
Gavin Arno
Julie Jacob
David Creytens
et al.
A1
Journal Article
in
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
2021
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss
Giulia Ascari
Nanna D Rendtorff
Marieke De Bruyne
Julie De Zaeytijd
Michel Van Lint
Mattias Van Heetvelde
Alfredo Dueñas Rey
Gavin Arno
Julie Jacob
David Creytens
et al.
C3
Conference
2021
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 Vandeputte
Mattias Van Heetvelde
Caroline Van Cauwenbergh
Sara Seneca
Elfride De Baere
Bart Leroy
Julie De Zaeytijd
A1
Journal Article
in
OPHTHALMIC GENETICS
2021
Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients
Greet Wieme
Jan Kral
Toon Rosseel
Petra Zemankova
Bram Parton
Michal Vocka
Mattias Van Heetvelde
Petra Kleiblova
Bettina Blaumeiser
Jana Soukupova
et al.
C3
Conference
2021
Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients
Greet Wieme
Jan Kral
Toon Rosseel
Petra Zemankova
Bram Parton
Michal Vocka
Mattias Van Heetvelde
Petra Kleiblova
Bettina Blaumeiser
Jana Soukupova
et al.
A1
Journal Article
in
CANCERS
2021
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 Baert
Maria Palermo
Mattias Van Heetvelde
Bram Verstraete
Julie Depuydt
Jeroen Vierstraete
Jan Philippé
Anna Sablina
Gianpaolo Perletti
Kathleen Claes
et al.
A2
Journal Article
in
WORLD ACADEMY OF SCIENCES JOURNAL
2020
Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
Giulia Ascari
Nanna D. Rendtorff
Julie De Zaeytijd
Valerie Baumont
Marieke De Bruyne
Mattias Van Heetvelde
Toon Rosseel
Tim De Pooter
Peter De Rijk
Wouter De Coster
et al.
C3
Conference
2020
Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
Giulia Ascari
Nanna D. Rendtorff
Julie De Zaeytijd
Valerie Baumont
Marieke De Bruyne
Mattias Van Heetvelde
Toon Rosseel
Tim De Pooter
Peter De Rijk
Wouter De Coster
et al.
C3
Conference
2020
Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing
Giulia Ascari
Nanna D. Rendtorff
Julie Jacob
Julie De Zaeytijd
Valerie Baumont
Marieke De Bruyne
Toon Rosseel
Mattias Van Heetvelde
Tim De Pooter
Wouter De Coster
et al.
C3
Conference
2020
2019
Second hits in BRCA1- and BRCA2-associated breast and ovarian cancer : connecting coding to non-coding mechanisms of inactivation
Mattias Van Heetvelde
Kathleen Claes
Anne Vral
Kim De Leeneer
Dissertation
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 Heetvelde
Mieke R Van Bockstal
Jo Van Dorpe
Kim De Leeneer
Anne Vral
Kathleen Claes
C3
Conference
2019
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 Heetvelde
Mieke Van Bockstal
Bruce Poppe
Kathleen Lambein
Toon Rosseel
Lilit Atanesyan
Dieter Deforce
Ivo Van Den Berghe
Kim De Leeneer
Jo Van Dorpe
et al.
A1
Journal Article
in
CANCER LETTERS
2018
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Marjolein Carron
Alexander Aslanidis
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Mattias Van Heetvelde
Miriam Bauwens
Hannah Verdin
et al.
A1
Journal Article
in
GENETICS IN MEDICINE
2018
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Timothy R Rebbeck
Tara M Friebel
Eitan Friedman
Ute Hamann
Dezheng Huo
Ava Kwong
Edith Olah
Olufunmilayo I. Olopade
Angela R Solano
Soo-Hwang Teo
et al.
A1
Journal Article
in
HUMAN MUTATION
2018
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 Heetvelde
Mieke R Van Bockstal
Jo Van Dorpe
Kim De Leeneer
Anne Vral
Kathleen Claes
C3
Conference
2018
2017
Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCR
Mattias Van Heetvelde
Wouter Van Loocke
Wim Trypsteen
Annelot Baert
Katrien Vanderheyden
Brecht Crombez
Jo Vandesompele
Kim De Leeneer
Kathleen Claes
A2
Journal Article
in
BIOMOLECULAR DETECTION AND QUANTIFICATION
2017
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Catherine M Phelan
Karoline B Kuchenbaecker
Jonathan P Tyrer
Siddhartha P Kar
Kate Lawrenson
Stacey J Winham
Joe Dennis
Ailith Pirie
Marjorie J Riggan
Ganna Chornokur
et al.
A1
Journal Article
in
NATURE GENETICS
2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Marjolein Carron
Alexander Aslanidis
Caroline Van Cauwenbergh
Anja Kathrin Mayer
Mattias Van Heetvelde
Miriam Bauwens
Hannah Verdin
et al.
C3
Conference
2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil
Sarah Naessens
Stijn Van de Sompele
Marjolein Carron
Alexander Aslanidis
Caroline Van Cauwenbergh
Anne Kathrin Mayer
Mattias Van Heetvelde
Miriam Bauwens
Hannah Verdin
et al.
C3
Conference
2017
Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores
Julie Lecarpentier
Valentina Silvestri
Karoline B Kuchenbaecker
Daniel Barrowdale
Joe Dennis
Lesley McGuffog
Penny Soucy
Goska Leslie
Piera Rizzolo
Anna Sara Navazio
et al.
A1
Journal Article
in
JOURNAL OF CLINICAL ONCOLOGY
2017
Second hit landscape in BRCA-associated breast cancer
Mattias Van Heetvelde
Mieke Van Bockstal
Trees Lepez
Steve Lefever
Leen Pieters
Kathleen Lambein
Marleen Praet
Ivo Van Den Berghe
Frauke Coppieters
Nadine Van Roy
et al.
C3
Conference
2017
Second hit landscape in BRCA1/2-associated breast cancer
Mattias Van Heetvelde
Mieke Van Bockstal
Trees Lepez
Kathleen Lambein
Dieter Deforce
Anne Vral
Bruce Poppe
Kim De Leeneer
Jo Van Dorpe
Kathleen Claes
C3
Conference
2017
2016
Thorough second hit analysis in BRCA1/2 associated breast cancer
Mattias Van Heetvelde
Trees Lepez
Leen Pieters
Steve Lefever
Jo Van Dorpe
Kathleen Lambein
Marleen Praet
ivo Van Den Berghe
Frauke Coppieters
Jo Vandesompele
et al.
C3
Conference
2016
Thorough second-hit analysis in BRCA1/2-associated breast cancer
Mattias Van Heetvelde
Trees Lepez
Leen Pieters
Steve Lefever
Jo Van Dorpe
Kathleen Lambein
Marleen Praet
Ivo Van Den Berghe
Frauke Coppieters
Jo Vandesompele
et al.
C3
Conference
2016
2015
Accurate quantification of transcripts : a RT-qPCR versus ddPCR comparison
Mattias Van Heetvelde
Wouter Van Loocke
Kim De Leeneer
Brecht Crombez
Annelot Baert
Katrien Vanderheyden
Kathleen Claes
C3
Conference
2015
Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
Kim De Leeneer
Jan Hellemans
Wouter Steyaert
Steve Lefever
Inge Vereecke
Eveline Debals
Brecht Crombez
Machteld Baetens
Mattias Van Heetvelde
Frauke Coppieters
et al.
A1
Journal Article
in
HUMAN MUTATION
2015