Search Results - "Sante, Tom"

Evaluation of efficiency and sensitivity of 1D and 2D sample pooling strategies for SARS-CoV-2 RT-qPCR screening purposes by Verwilt, Jasper, Hellemans, Jan, Sante, Tom, Mestdagh, Pieter, Vandesompele, Jo

“…To increase the throughput, lower the cost, and save scarce test reagents, laboratories can pool patient samples before SARS-CoV-2 RT-qPCR testing. While…”
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Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients by Van Roy, Nadine, Van Der Linden, Malaïka, Menten, Björn, Dheedene, Annelies, Vandeputte, Charlotte, Van Dorpe, Jo, Laureys, Geneviève, Renard, Marleen, Sante, Tom, Lammens, Tim, De Wilde, Bram, Speleman, Frank, De Preter, Katleen

“…Neuroblastoma (NB) is a heterogeneous disease characterized by distinct clinical features and by the presence of typical copy-number alterations (CNAs). Given…”
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Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts by Deleye, Lieselot, M.Sc, Dheedene, Annelies, M.Sc, De Coninck, Dieter, Ph.D, Sante, Tom, M.Sc, Christodoulou, Christodoulos, M.Sc, Heindryckx, Björn, Ph.D, Van den Abbeel, Etienne, Ph.D, De Sutter, Petra, Ph.D, Deforce, Dieter, Ph.D, Menten, Björn, Ph.D, Van Nieuwerburgh, Filip, Ph.D

“…Objective To add evidence that massive parallel sequencing (MPS) is a valuable substitute for array comparative genomic hybridization (arrayCGH) with a…”
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ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation by Sante, Tom, Vergult, Sarah, Volders, Pieter-Jan, Kloosterman, Wigard P, Trooskens, Geert, De Preter, Katleen, Dheedene, Annelies, Speleman, Frank, De Meyer, Tim, Menten, Björn

“…Structural genomic variations play an important role in human disease and phenotypic diversity. With the rise of high-throughput sequencing tools,…”
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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain by Verdin, Hannah, D'haene, Barbara, Beysen, Diane, Novikova, Yana, Menten, Björn, Sante, Tom, Lapunzina, Pablo, Nevado, Julian, Carvalho, Claudia M B, Lupski, James R, De Baere, Elfride

“…Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism…”
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Focal DNA copy number changes in neuroblastoma target MYCN regulated genes by Kumps, Candy, Fieuw, Annelies, Mestdagh, Pieter, Menten, Björn, Lefever, Steve, Pattyn, Filip, De Brouwer, Sara, Sante, Tom, Schulte, Johannes Hubertus, Schramm, Alexander, Van Roy, Nadine, Van Maerken, Tom, Noguera, Rosa, Combaret, Valérie, Devalck, Christine, Westermann, Frank, Laureys, Geneviève, Eggert, Angelika, Vandesompele, Jo, De Preter, Katleen, Speleman, Frank

“…Neuroblastoma is an embryonic tumor arising from immature sympathetic nervous system cells. Recurrent genomic alterations include MYCN and ALK amplification as…”
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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 by Coppieters, Frauke, Van Schil, Kristof, Bauwens, Miriam, Verdin, Hannah, De Jaegher, Annelies, Syx, Delfien, Sante, Tom, Lefever, Steve, Abdelmoula, Nouha Bouayed, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Meire, Françoise, Leroy, Bart P., De Baere, Elfride

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Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy by Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen W., Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal, Prokisch, Holger

“…Respiratory chain deficiencies exhibit a wide variety of clinical phenotypes resulting from defective mitochondrial energy production through oxidative…”
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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 by Van Cauwenbergh, Caroline, Van Schil, Kristof, Cannoodt, Robrecht, Bauwens, Miriam, Van Laethem, Thalia, De Jaegere, Sarah, Steyaert, Wouter, Sante, Tom, Menten, Björn, Leroy, Bart P., Coppieters, Frauke, De Baere, Elfride

“…Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited…”
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Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue by Van der Linden, Malaïka, Raman, Lennart, Vander Trappen, Ansel, Dheedene, Annelies, De Smet, Matthias, Sante, Tom, Creytens, David, Lievens, Yolande, Menten, Björn, Van Dorpe, Jo, Van Roy, Nadine

“…In routine clinical practice, tumor tissue is stored in formalin-fixed, paraffin-embedded blocks. However, the use of formalin-fixed, paraffin-embedded tissue…”
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Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2) by Vanlander, Arnaud V., Menten, Björn, Smet, Joél, De Meirleir, Linda, Sante, Tom, De Paepe, Boel, Seneca, Sara, Pearce, Sarah F., Powell, Christopher A., Vergult, Sarah, Michotte, Alex, De Latter, Elien, Vantomme, Lies, Minczuk, Michal, Van Coster, Rudy

“…ABSTRACT A homozygous missense mutation (c.822G>C) was found in the gene encoding the mitochondrial asparaginyl–tRNA synthetase (NARS2) in two siblings born to…”
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Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method by Deleye, Lieselot, Coninck, Dieter De, Christodoulou, Christodoulos, Sante, Tom, Dheedene, Annelies, Heindryckx, Björn, Abbeel, Etienne Van den, Sutter, Petra De, Menten, Björn, Deforce, Dieter, Nieuwerburgh, Filip Van

“…Current whole genome amplification (WGA) methods lead to amplification bias resulting in over- and under-represented regions in the genome. Nevertheless,…”
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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 by Coppieters, Frauke, Van Schil, Kristof, Bauwens, Miriam, Verdin, Hannah, De Jaegher, Annelies, Syx, Delfien, Sante, Tom, Lefever, Steve, Abdelmoula, Nouha Bouayed, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Meire, Françoise, Leroy, Bart P., De Baere, Elfride

“…Purpose: Autosomal recessive retinal dystrophies are clinically and genetically heterogeneous, which hampers molecular diagnosis. We evaluated…”
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Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory by Dheedene, Annelies, Sante, Tom, De Smet, Matthias, Vanbellinghen, Jean-François, Grisart, Bernard, Vergult, Sarah, Janssens, Sandra, Menten, Björn

“…Objectives To implement non‐invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to…”
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Continuous local intrahippocampal delivery of adenosine reduces seizure frequency in rats with spontaneous seizures by Van Dycke, Annelies, Raedt, Robrecht, Dauwe, Ine, Sante, Tom, Wyckhuys, Tine, Meurs, Alfred, Vonck, Kristl, Wadman, Wytse, Boon, Paul

“…Summary Purpose:  Despite different treatment options for patients with refractory epilepsy such as epilepsy surgery and neurostimulation, many patients still…”
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The mutational landscape of MYCN, Lin28b and ALKF1174L driven murine neuroblastoma mimics human disease by De Wilde, Bram, Beckers, Anneleen, Lindner, Sven, Kristina, Althoff, De Preter, Katleen, Depuydt, Pauline, Mestdagh, Pieter, Sante, Tom, Lefever, Steve, Hertwig, Falk, Peng, Zhiyu, Shi, Le-Ming, Lee, Sangkyun, Vandermarliere, Elien, Martens, Lennart, Menten, Björn, Schramm, Alexander, Fischer, Matthias, Schulte, Johannes, Vandesompele, Jo, Speleman, Frank

“…Genetically engineered mouse models have proven to be essential tools for unraveling fundamental aspects of cancer biology and for testing novel therapeutic…”
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Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations by Vergult, Sarah, Van Binsbergen, Ellen, Sante, Tom, Nowak, Silke, Vanakker, Olivier, Claes, Kathleen, Poppe, Bruce, Van der Aa, Nathalie, van Roosmalen, Markus J, Duran, Karen, Tavakoli-Yaraki, Masoumeh, Swinkels, Marielle, van den Boogaard, Marie-José, van Haelst, Mieke, Roelens, Filip, Speleman, Frank, Cuppen, Edwin, Mortier, Geert, Kloosterman, Wigard P, Menten, Björn

“…Recently, microarrays have replaced karyotyping as a first tier test in patients with idiopathic intellectual disability and/or multiple congenital…”
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The mutational landscape of MYCN , Lin28b and ALK F1174L driven murine neuroblastoma mimics human disease by De Wilde, Bram, Beckers, Anneleen, Lindner, Sven, Kristina, Althoff, De Preter, Katleen, Depuydt, Pauline, Mestdagh, Pieter, Sante, Tom, Lefever, Steve, Hertwig, Falk, Peng, Zhiyu, Shi, Le-Ming, Lee, Sangkyun, Vandermarliere, Elien, Martens, Lennart, Menten, Björn, Schramm, Alexander, Fischer, Matthias, Schulte, Johannes, Vandesompele, Jo, Speleman, Frank

“…Genetically engineered mouse models have proven to be essential tools for unraveling fundamental aspects of cancer biology and for testing novel therapeutic…”
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Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain: e1003358 by Verdin, Hannah, Beysen, Diane, Novikova, Yana, Menten, Björn, Sante, Tom, Lapunzina, Pablo, Nevado, Julian, Carvalho, Claudia MB, Lupski, James R, Baere, Elfride De

“…Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism…”
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Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT by Hemelsoet, Dimitri M, Vanlander, Arnaud V, Smet, Joél, Vantroys, Elise, Acou, Marjan, Goethals, Ingeborg, Sante, Tom, Seneca, Sara, Menten, Bjorn, Van Coster, Rudy

“…To report the clinical, radiologic, biochemical, and molecular characteristics in a 46-year-old participant with adult-onset Leigh syndrome (LS), followed by…”
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