T. Sante

发表

The mutational landscape of MYCN, Lin28b and ALKF1174L driven murine neuroblastoma mimics human disease

Sangkyun Lee, F. Speleman, B. Menten, 2017, Oncotarget.

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

I. Casteels, E. Baere, F. Coppieters, 2014, Genetics in Medicine.

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

G. Mortier, B. Menten, E. Klopocki, 2012, Genetics in Medicine.

Evaluation of efficiency and sensitivity of 1D and 2D sample pooling strategies for SARS-CoV-2 RT-qPCR screening purposes

J. Vandesompele, J. Hellemans, P. Mestdagh, 2022, Scientific Reports.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

Focal DNA Copy Number Changes in Neuroblastoma Target MYCN Regulated Genes

F. Westermann, F. Speleman, B. Menten, 2013, PloS one.

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

B. Menten, Robrecht Cannoodt, E. De Baere, 2016, Genetics in Medicine.

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

E. Cuppen, G. Mortier, F. Speleman, 2012 .

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT

S. Seneca, B. Menten, M. Acou, 2018, Neurology: Genetics.

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

J. Lupski, B. Menten, P. Lapunzina, 2013, PLoS genetics.

Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts.

B. Menten, B. Heindryckx, D. Deforce, 2015, Fertility and sterility.

ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation

Tom Sante, Wigard P. Kloosterman, Sarah Vergult, 2014, PloS one.

Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients

Tom Sante, Frank Speleman, Björn Menten, 2017, Clinical Cancer Research.

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Edwin Cuppen, Tom Sante, Sarah Vergult, 2013, European Journal of Human Genetics.

Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue.

B. Menten, N. Van Roy, A. Dheedene, 2019, Archives of pathology & laboratory medicine.

Implementation of non‐invasive prenatal testing by semiconductor sequencing in a genetic laboratory

Tom Sante, Sarah Vergult, Björn Menten, 2016, Prenatal diagnosis.

Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method

B. Menten, B. Heindryckx, D. Deforce, 2015, Scientific Reports.

Two Siblings with Homozygous Pathogenic Splice‐Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2)

M. Minczuk, S. Seneca, B. Menten, 2015, Human mutation.

Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2

M. Minczuk, B. Menten, A. Vanlander, 2014 .

Evaluation of efficiency and sensitivity of 1D and 2D sample pooling strategies for diagnostic screening purposes

J. Verwilt, P. Mestdagh, J. Vandesompele, 2020, medRxiv.

Continuous local intrahippocampal delivery of adenosine reduces seizure frequency in rats with spontaneous seizures

Tom Sante, Alfred Meurs, Kristl Vonck, 2010, Epilepsia.

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

J. Lupski, B. Menten, P. Lapunzina, 2011 .