Publications by authors named "Tom Sante"

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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

Sci Rep· April 2022

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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

Arch Pathol Lab Med· December 2019

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Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in .
Dimitri M Hemelsoet, Arnaud V Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Tom Sante

Neurol Genet· December 2018

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The mutational landscape of , and driven murine neuroblastoma mimics human disease.
Bram De Wilde, Anneleen Beckers, Sven Lindner, Althoff Kristina, Katleen De Preter, Tom Sante

Oncotarget· February 2018

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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, Tom Sante

Clin Cancer Res· October 2017

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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, Tom Sante

Genet Med· April 2017

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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

Prenat Diagn· August 2016

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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

Fertil Steril· November 2015

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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

PLoS One· October 2015

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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

Sci Rep· June 2015

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Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
Arnaud V Vanlander, Björn Menten, Joél Smet, Linda De Meirleir, Tom Sante

Hum Mutat· February 2015

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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, Tom Sante

Am J Hum Genet· December 2014

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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, Tom Sante

Genet Med· September 2014

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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

Eur J Hum Genet· May 2014

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Focal DNA copy number changes in neuroblastoma target MYCN regulated genes.
Candy Kumps, Annelies Fieuw, Pieter Mestdagh, Björn Menten, Steve Lefever, Tom Sante

PLoS One· July 2013

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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

PLoS Genet· June 2013

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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

Genet Med· March 2013

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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

Epilepsia· September 2010

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