Tom Sante
Gent, VLG 9000, Belgium
Last Updated: 09/26/2026
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Found 17 publications
Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue.
Journal: Archives of pathology & laboratory medicine
Published: December 18, 2019
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT.
Journal: Neurology. Genetics
Published: April 06, 2018
Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients.
Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: March 08, 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.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 13, 2016
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.
Journal: Prenatal diagnosis
Published: December 31, 2015
Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method.
Journal: Scientific reports
Published: January 22, 2015
ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation.
Journal: PloS one
Published: August 20, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Journal: American journal of human genetics
Published: July 30, 2014
Last Updated: 09/26/2026