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Onderzoeker
Tom Sante
Profiel
Projecten
Publicaties
Activiteiten
Prijzen & Erkenningen
36
Resultaten
2022
Evaluation of efficiency and sensitivity of 1D and 2D sample pooling strategies for SARS-CoV-2 RT-qPCR screening purposes
Jasper Verwilt
Jan Hellemans
Tom Sante
Pieter Mestdagh
Jo Vandesompele
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2022
2020
Detection of copy number alterations by shallow whole-genome sequencing of formalin-fixed, paraffin-embedded tumor tissue
Malaïka Van der Linden
Lennart Raman
Ansel Vander Trappen
Annelies Dheedene
Matthias De Smet
Tom Sante
David Creytens
Yolande Lievens
Björn Menten
Jo Van Dorpe
et al.
A1
Artikel in een tijdschrift
in
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
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 Verdin
Toon Rosseel
Sascha Vermeer
Irina Balikova
Philippe Kestelyn
Colombine Meunier
Françoise Meire
Julie Van De Velde
Olivier Vanakker
Jenneke Van Den Ende
et al.
C3
Conferentie
2020
2019
Analysis of whole exome sequencing data with a panel of genes associated with intellectual disability and epilepsy in a diagnostic lab
Sarah Vergult
Erika D'haenens
Machteld Baetens
Frauke Coppieters
Maarten De Smet
Annelies Dheedene
Toon Rosseel
Tom Sante
Björn Menten
C3
Conferentie
2019
Clinical experience with shallow whole genome sequencing as a detection method for Copy Number Variations
Björn Menten
Maarten De Smet
Lennart Raman
Tom Sante
Nadine Van Roy
Annelies Dheedene
C3
Conferentie
2019
Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities
Machteld Baetens
Tom Sante
Sarah Vergult
M. De Smet
S. Janssens
Olivier Vanakker
Bert Callewaert
Bruce Poppe
Annelies Dheedene
Björn Menten
C3
Conferentie
2019
2018
Detection of copy number alterations using shallow whole genome sequencing on formalin-fixed paraffin-embedded tumor tissue
Malaïka Van der Linden
Lennart Raman
Ansel Vander Trappen
Annelies Dheedene
Matthias De Smet
Tom Sante
David Creytens
Björn Menten
Jo Van Dorpe
Nadine Van Roy
C3
Conferentie
2018
Detection of copy number alterations using shallow whole genome sequencing on formalin-fixed paraffin-embedded tumor tissue
Malaïka Van der Linden
Lennart Raman
Ansel Vander Trappen
Annelies Dheedene
Matthias De Smet
Tom Sante
David Creytens
Björn Menten
Jo Van Dorpe
Nadine Van Roy
C3
Conferentie
2018
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT
Dimitri Hemelsoet
Arnaud Vanlander
Joél Smet
Elise Vantroys
Marjan Acou
Ingeborg Goethals
Tom Sante
Sara Seneca
Björn Menten
Rudy Van Coster
A1
Artikel in een tijdschrift
in
NEUROLOGY-GENETICS
2018
The mutational landscape of MYCN, Lin28b and ALKF1174L driven murine neuroblastoma mimics human disease
Bram De Wilde
Anneleen Beckers
Sven Lindner
Kristina Althoff
Katleen De Preter
Pauline Depuydt
Pieter Mestdagh
Tom Sante
Steve Lefever
Falk Hertwig
et al.
A2
Artikel in een tijdschrift
in
ONCOTARGET
2018
2017
Shallow whole genome sequencing on circulating cell-free DNA allows reliable non-invasive copy number profiling in neuroblastoma patients
Nadine Van Roy
Malaïka Van der Linden
Pauline Depuydt
Björn Menten
Annelies Dheedene
Charlotte Vandeputte
Jo Van Dorpe
Genevieve Laureys
Marjolijn Renard
Tom Sante
et al.
C3
Conferentie
2017
Shallow whole genome sequencing on circulating cell-free DNA allows reliable noninvasive copy-number profiling in neuroblastoma patients
Nadine Van Roy
Malaïka Van der Linden
Björn Menten
Annelies Dheedene
Charlotte Vandeputte
Jo Van Dorpe
Genevieve Laureys
Marleen Renard
Tom Sante
Tim Lammens
et al.
A1
Artikel in een tijdschrift
in
CLINICAL CANCER RESEARCH
2017
arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
Caroline Van Cauwenbergh
Kristof Van Schil
Robrecht Cannoodt
Miriam Bauwens
Thalia Van Laethem
Sarah De Jaegere
Wouter Steyaert
Tom Sante
Björn Menten
Bart Leroy
et al.
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2017
2016
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory
Annelies Dheedene
Tom Sante
Matthias De Smet
Jean-François Vanbellinghen
Bernard Grisart
Sarah Vergult
Sandra Janssens
Björn Menten
A1
Artikel in een tijdschrift
in
PRENATAL DIAGNOSIS
2016
Mild early epileptic encephalopathy evolving to spastic paraplegia, neurogenic bladder and generalized slow colon transit in an 18-year old patient with pathogenic mutations in FARS2
Elise Vantroys
Joél Smet
Arnaud Vanlander
Boel De Paepe
Sarah Vergult
Tom Sante
Björn Menten
Rudy Van Coster
C3
Conferentie
2016
Pathogenic mutations in FARS2 in a patient with motor regression and epilepsy as first signs, later evolving to spastic paraplegia associated with autonomic disturbances
Elise Vantroys
Joél Smet
Arnaud Vanlander
Boel De Paepe
Sarah Vergult
Tom Sante
Björn Menten
Rudy Van Coster
C3
Conferentie
2016
Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2
PATRICK VERLOO
Joél Smet
Elise Vantroys
Arnaud Vanlander
Sarah Vergult
Tom Sante
Björn Menten
Rudy Van Coster
C3
Conferentie
2016
2015
Development of a sequence analysis pipeline for variant detection and interpretation
Tom Sante
Björn Menten
Proefschrift
2015
Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts
Lieselot Deleye
Annelies Dheedene
Dieter De Coninck
Tom Sante
CHRISTODOULOS CHRISTODOULOU
Björn Heindryckx
Etienne Van den Abbeel
Petra De Sutter
Dieter Deforce
Björn Menten
et al.
A1
Artikel in een tijdschrift
in
FERTILITY AND STERILITY
2015
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)
Arnaud Vanlander
Björn Menten
Joél Smet
Linda De Meirleir
Tom Sante
Boel De Paepe
Sara Seneca
Sarah F Pearce
Christopher A Powell
Sarah Vergult
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2015
Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method
Lieselot Deleye
Dieter De Coninck
CHRISTODOULOS CHRISTODOULOU
Tom Sante
Annelies Dheedene
Björn Heindryckx
Etienne Van den Abbeel
Petra De Sutter
Björn Menten
Dieter Deforce
et al.
A1
Artikel in een tijdschrift
in
SCIENTIFIC REPORTS
2015
2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
Frauke Coppieters
Kristof Van Schil
Miriam Bauwens
Hannah Verdin
Annelies De Jaegher
Delfien Syx
Tom Sante
Steve Lefever
Nouha Bouayed Abdelmoula
Fanny Depasse
et al.
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2014
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
Sarah Vergult
Ellen Van Binsbergen
Tom Sante
Silke Nowak
Olivier Vanakker
Kathleen Claes
Bruce Poppe
Nathalie Van der Aa
Markus J van Roosmalen
Karen Duran
et al.
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
Robert Kopajtich
Thomas J Nicholls
Joanna Rorbach
Metodi D Metodiev
Peter Freisinger
Hanna Mandel
Arnaud Vanlander
Daniele Ghezzi
Rosalba Carrozzo
Robert W Taylor
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2014
Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2
Arnaud Vanlander
M Minczuk
Tom Sante
Joél Smet
Boel De Paepe
Linda De Meirleir
Björn Menten
Rudy Van Coster
C3
Conferentie
2014
ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation
Tom Sante
Sarah Vergult
Pieter-Jan Volders
Wigard P Kloosterman
Geert Trooskens
Katleen De Preter
Annelies Dheedene
Franki Speleman
Tim De Meyer
Björn Menten
A1
Artikel in een tijdschrift
in
PLOS ONE
2014
2013
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients
Sarah Vergult
A Jeannette M Hoogeboom
Emilia K Bijlsma
Tom Sante
Eva Klopocki
Bram De Wilde
Marjolijn Jongmans
Christian Thiel
Joke BGM Verheij
Antonio Perez-Aytes
et al.
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2013
Focal DNA copy number changes in neuroblastoma target MYCN regulated genes
Candy Kumps
Annelies Fieuw
Pieter Mestdagh
Björn Menten
Steve Lefever
Filip Pattyn
Sara De Brouwer
Tom Sante
Johannes Hubertus Schulte
Alexander Schramm
et al.
A1
Artikel in een tijdschrift
in
PLOS ONE
2013
Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
Sarah Vergult
Ellen Van Binsbergen
Tom Sante
Silke Nowak
Olivier Vanakker
Kathleen Claes
Bruce Poppe
Nathalie Van der Aa
MJ Van Roosmalen
K Duran
et al.
C3
Conferentie
2013
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain
Hannah Verdin
Barbara D'haene
Diane Beysen
Yana Novikova
Björn Menten
Tom Sante
Pablo Lapunzina
Julian Nevado
Claudio MB Carvalho
James R Lupski
et al.
A1
Artikel in een tijdschrift
in
PLOS GENETICS
2013
Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain
Hannah Verdin
Barbara D'haene
Diane Beysen
Yana Novikova
Björn Menten
Tom Sante
Pablo Lapunzina
Julian Nevado
Claudia Carvalho
James Lupski
et al.
C3
Conferentie
2013
2012
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients
Sarah Vergult
Jeanette Hoogeboom
EK Bijlsma
Tom Sante
Eva Klopocki
Bram De Wilde
Marjolein Jongmans
Christian Thiel
J Verheij
A Perez-Aytes
et al.
C3
Conferentie
2012
Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
Sarah Vergult
Ellen Van Binsbergen
Tom Sante
Silke Nowak
Olivier Vanakker
Kathleen Claes
Bruce Poppe
Nathalie Van der Aa
MJ Van Roosmalen
K Duran
et al.
C3
Conferentie
2012
2011
A visualization platform for interpretation of structural genomic data
Tom Sante
Sarah Vergult
Björn Menten
C3
Conferentie
2011
Complex genetics of radial ray deficiencies: screening of a cohort of 50 patients
Sarah Vergult
Jeanette Hoogeboom
EK Bijlsma
Tom Sante
Eva Klopocki
Bram De Wilde
Marjolein Jongmans
Christian Thiel
J Verheij
A Perez-Aytes
et al.
C3
Conferentie
2011
2010
Continuous local intrahippocampal delivery of adenosine reduces seizure frequency in rats with spontaneous seizures
Annelies Van Dycke
Robrecht Raedt
Ine Dauwe
Tom Sante
Tine Wyckhuys
Alfred Meurs
Kristl Vonck
Wytse Wadman
Paul Boon
A1
Artikel in een tijdschrift
in
EPILEPSIA
2010