Research Explorer

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Researcher

Tom Sante

Publications & Research Data

Awards & Distinctions

37 Results

2025

DNA sample tracking for diagnostic exome sequencing - a 1-year experience

Peter N. D. CeulemansMatthias De SmetTom SanteGertjan WilsThalia Van LaethemMauro Alessio MilazzoJo VandesompeleFrauke CoppietersSteve LefeverBrecht Guillemyn et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

2022

Evaluation of efficiency and sensitivity of 1D and 2D sample pooling strategies for SARS-CoV-2 RT-qPCR screening purposes

Jasper VerwiltJan HellemansTom SantePieter MestdaghJo Vandesompele

A1 Journal Article in SCIENTIFIC REPORTS

2020

Detection of copy number alterations by shallow whole-genome sequencing of formalin-fixed, paraffin-embedded tumor tissue

Malaïka Van der LindenLennart RamanAnsel Vander TrappenAnnelies DheedeneMatthias De SmetTom SanteDavid CreytensYolande LievensBjörn MentenJo Van Dorpe et al.

A1 Journal Article in ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

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.

2019

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

Clinical experience with shallow whole genome sequencing as a detection method for Copy Number Variations

Björn MentenMaarten De SmetLennart RamanTom SanteNadine Van RoyAnnelies Dheedene

Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities

Machteld BaetensTom SanteSarah VergultM. De SmetS. JanssensOlivier VanakkerBert CallewaertBruce PoppeAnnelies DheedeneBjörn Menten

2018

Detection of copy number alterations using shallow whole genome sequencing on formalin-fixed paraffin-embedded tumor tissue

Malaïka Van der LindenLennart RamanAnsel Vander TrappenAnnelies DheedeneMatthias De SmetTom SanteDavid CreytensBjörn MentenJo Van DorpeNadine Van Roy

Detection of copy number alterations using shallow whole genome sequencing on formalin-fixed paraffin-embedded tumor tissue

Malaïka Van der LindenLennart RamanAnsel Vander TrappenAnnelies DheedeneMatthias De SmetTom SanteDavid CreytensBjörn MentenJo Van DorpeNadine Van Roy

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT

Dimitri HemelsoetArnaud VanlanderJoél SmetElise VantroysMarjan AcouIngeborg GoethalsTom SanteSara SenecaBjörn MentenRudy Van Coster

A1 Journal Article in NEUROLOGY-GENETICS

The mutational landscape of MYCN, Lin28b and ALKF1174L driven murine neuroblastoma mimics human disease

Bram De WildeAnneleen BeckersSven LindnerKristina AlthoffKatleen De PreterPauline DepuydtPieter MestdaghTom SanteSteve LefeverFalk Hertwig et al.

A2 Journal Article in ONCOTARGET

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 CauwenberghKristof Van SchilRobrecht CannoodtMiriam BauwensThalia Van LaethemSarah De JaegereWouter SteyaertTom SanteBjörn MentenBart Leroy et al.

A1 Journal Article in GENETICS IN MEDICINE

Shallow whole genome sequencing on circulating cell-free DNA allows reliable non-invasive copy number profiling in neuroblastoma patients

Nadine Van RoyMalaïka Van der LindenPauline DepuydtBjörn MentenAnnelies DheedeneCharlotte VandeputteJo Van DorpeGenevieve LaureysMarjolijn RenardTom Sante et al.

Shallow whole genome sequencing on circulating cell-free DNA allows reliable noninvasive copy-number profiling in neuroblastoma patients

Nadine Van RoyMalaïka Van der LindenBjörn MentenAnnelies DheedeneCharlotte VandeputteJo Van DorpeGenevieve LaureysMarleen RenardTom SanteTim Lammens et al.

A1 Journal Article in CLINICAL CANCER RESEARCH

2016

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory

Annelies DheedeneTom SanteMatthias De SmetJean-François VanbellinghenBernard GrisartSarah VergultSandra JanssensBjörn Menten

A1 Journal Article in PRENATAL DIAGNOSIS

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 VantroysJoél SmetArnaud VanlanderBoel De PaepeSarah VergultTom SanteBjörn MentenRudy Van Coster

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 VantroysJoél SmetArnaud VanlanderBoel De PaepeSarah VergultTom SanteBjörn MentenRudy Van Coster

Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2

PATRICK VERLOOJoél SmetElise VantroysArnaud VanlanderSarah VergultTom SanteBjörn MentenRudy Van Coster

2015

Development of a sequence analysis pipeline for variant detection and interpretation

Tom SanteBjörn Menten

Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts

Lieselot DeleyeAnnelies DheedeneDieter De ConinckTom SanteCHRISTODOULOS CHRISTODOULOUBjörn HeindryckxEtienne Van den AbbeelPetra De SutterDieter DeforceBjörn Menten et al.

A1 Journal Article in FERTILITY AND STERILITY

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)

Arnaud VanlanderBjörn MentenJoél SmetLinda De MeirleirTom SanteBoel De PaepeSara SenecaSarah F PearceChristopher A PowellSarah Vergult et al.

A1 Journal Article in HUMAN MUTATION

Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method

Lieselot DeleyeDieter De ConinckCHRISTODOULOS CHRISTODOULOUTom SanteAnnelies DheedeneBjörn HeindryckxEtienne Van den AbbeelPetra De SutterBjörn MentenDieter Deforce et al.

A1 Journal Article in SCIENTIFIC REPORTS

2014

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Frauke CoppietersKristof Van SchilMiriam BauwensHannah VerdinAnnelies De JaegherDelfien SyxTom SanteSteve LefeverNouha Bouayed AbdelmoulaFanny Depasse et al.

A1 Journal Article in GENETICS IN MEDICINE

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMarkus J van RoosmalenKaren Duran et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Robert KopajtichThomas J NichollsJoanna RorbachMetodi D MetodievPeter FreisingerHanna MandelArnaud VanlanderDaniele GhezziRosalba CarrozzoRobert W Taylor et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2

Arnaud VanlanderM MinczukTom SanteJoél SmetBoel De PaepeLinda De MeirleirBjörn MentenRudy Van Coster

ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation

Tom SanteSarah VergultPieter-Jan VoldersWigard P KloostermanGeert TrooskensKatleen De PreterAnnelies DheedeneFranki SpelemanTim De MeyerBjörn Menten

A1 Journal Article in PLOS ONE

2013

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Sarah VergultA Jeannette M HoogeboomEmilia K BijlsmaTom SanteEva KlopockiBram De WildeMarjolijn JongmansChristian ThielJoke BGM VerheijAntonio Perez-Aytes et al.

A1 Journal Article in GENETICS IN MEDICINE

Focal DNA copy number changes in neuroblastoma target MYCN regulated genes

Candy KumpsAnnelies FieuwPieter MestdaghBjörn MentenSteve LefeverFilip PattynSara De BrouwerTom SanteJohannes Hubertus SchulteAlexander Schramm et al.

A1 Journal Article in PLOS ONE

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMJ Van RoosmalenK Duran et al.

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneDIANE BEYSENYana NovikovaBjörn MentenTom SantePablo LapunzinaJulian NevadoClaudio MB CarvalhoJames R Lupski et al.

A1 Journal Article in PLOS GENETICS

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneDIANE BEYSENYana NovikovaBjörn MentenTom SantePablo LapunzinaJulian NevadoClaudia CarvalhoJames Lupski et al.

2012

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Sarah VergultJeanette HoogeboomEK BijlsmaTom SanteEva KlopockiBram De WildeMarjolein JongmansChristian ThielJ VerheijA Perez-Aytes et al.

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMJ Van RoosmalenK Duran et al.

2011

A visualization platform for interpretation of structural genomic data

Tom SanteSarah VergultBjörn Menten

Complex genetics of radial ray deficiencies: screening of a cohort of 50 patients

Sarah VergultJeanette HoogeboomEK BijlsmaTom SanteEva KlopockiBram De WildeMarjolein JongmansChristian ThielJ VerheijA Perez-Aytes et al.

2010

Continuous local intrahippocampal delivery of adenosine reduces seizure frequency in rats with spontaneous seizures

Annelies Van DyckeRobrecht RaedtIne DauweTom SanteTine WyckhuysAlfred MeursKristl VonckWytse WadmanPaul Boon

A1 Journal Article in EPILEPSIA