Onderzoeker
Tom Sante
- Disciplines:Pediatrie en neonatologie, Moleculaire en celbiologie, Systeembiologie, Verpleegkunde, Genetica
Affiliaties
- Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 okt 2010 → 25 sep 2016
Publicaties
1 - 10 van 27
- Evaluation of efficiency and sensitivity of 1D and 2D sample pooling strategies for SARS-CoV-2 RT-qPCR screening purposes(2022)
Auteurs: Jasper Verwilt, Jan Hellemans, Tom Sante, Pieter Mestdagh, Jo Vandesompele
- Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities(2019)Volume: 27
Auteurs: Machteld Baetens, Tom Sante, Sarah Vergult, M. De Smet, S. Janssens, Olivier Vanakker, Bert Callewaert, Bruce Poppe, Annelies Dheedene, Björn Menten
Pagina's: 24 - 24 - Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT(2018)
Auteurs: Dimitri Hemelsoet, Arnaud Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Ingeborg Goethals, Tom Sante, Sara Seneca, Björn Menten, Rudy Van Coster
- The mutational landscape of MYCN, Lin28b and ALKF1174L driven murine neuroblastoma mimics human disease(2018)
Auteurs: Anneleen Beckers, Sven Lindner, Kristina Althoff, Pauline Depuydt, Pieter Mestdagh, Tom Sante, Falk Hertwig, Zhiyu Peng, Le-ming Shi, Sangkyun Lee, et al.
Pagina's: 8334 - 8349 - 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(2017)
Auteurs: Kristof Van Schil, Miriam Bauwens, Sarah De Jaegere, Wouter Steyaert, Tom Sante
Pagina's: 457 - 466 - Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method(2015)
Auteurs: Lieselot Deleye, Dieter De Coninck, CHRISTODOULOS CHRISTODOULOU, Tom Sante, Annelies Dheedene, Dieter Deforce, Filip Van Nieuwerburgh
- Development of a sequence analysis pipeline for variant detection and interpretation(2015)
Auteurs: Tom Sante
- Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts(2015)
Auteurs: Lieselot Deleye, Annelies Dheedene, Dieter De Coninck, Tom Sante, CHRISTODOULOS CHRISTODOULOU, Dieter Deforce, Filip Van Nieuwerburgh
Pagina's: 1276 - 1285 - Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations(2014)
Auteurs: Sarah Vergult, Ellen Van Binsbergen, Tom Sante, Silke Nowak, Olivier Vanakker, Bruce Poppe, Nathalie Van der Aa, Markus J van Roosmalen, Karen Duran, Masoumeh Tavakoli-Yaraki, et al.
Pagina's: 652 - 659 - Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy(2014)
Auteurs: Kristof Van Schil, Miriam Bauwens, Hannah Verdin, Annelies De Jaegher, Tom Sante, Nouha Bouayed Abdelmoula, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Françoise Meire
Pagina's: 671 - 680