Researcher
Tom Sante
- Disciplines:Paediatrics and neonatology, Molecular and cell biology, Systems biology, Nursing, Genetics
Affiliations
- Department of Pediatrics and medical genetics (Department)
Member
From1 Oct 2010 → 25 Sep 2016
Publications
21 - 27 of 27
- Detection of copy number alterations by shallow whole-genome sequencing of formalin-fixed, paraffin-embedded tumor tissue
Authors: Lennart Raman, Ansel Vander Trappen, Annelies Dheedene, Tom Sante
Pages: 974 - 981 - Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients
Authors: Sarah Vergult, Jeanette Hoogeboom, EK Bijlsma, Tom Sante, Eva Klopocki, Marjolein Jongmans, Christian Thiel, J Verheij, A Perez-Aytes, Hilde Van Esch, et al.
Number of pages: 1 - Shallow whole genome sequencing on circulating cell-free DNA allows reliable noninvasive copy-number profiling in neuroblastoma patients
Authors: Annelies Dheedene, Charlotte Vandeputte, Marleen Renard, Tom Sante
Pages: 6305 - 6314 - Analysis of whole exome sequencing data with a panel of genes associated with intellectual disability and epilepsy in a diagnostic labVolume: 27
Authors: Sarah Vergult, Erika D'haenens, Machteld Baetens, Maarten De Smet, Annelies Dheedene, Toon Rosseel, Tom Sante
Pages: 246 - 246 - Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
Authors: 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.
Pages: 708 - 720 - Clinical experience with shallow whole genome sequencing as a detection method for Copy Number VariationsVolume: 27
Authors: Maarten De Smet, Lennart Raman, Tom Sante, Annelies Dheedene
Pages: 846 - 847 - Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2Volume: 39
Authors: PATRICK VERLOO, Joél Smet, Elise Vantroys, Arnaud Vanlander, Sarah Vergult, Tom Sante, Rudy Van Coster
Pages: S164 - S164