Tom Sante

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach et al. · The American Journal of Human Genetics · 2014 · 158 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Nadine Van Roy, Malaïka Van Der Linden, Björn Menten et al. · Clinical Cancer Research · 2017 · 127 citations

Medicine, Molecular Genetics, Oncology +17

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

Hannah Verdin, Barbara D′haene, Diane Beysen et al. · PLoS Genetics · 2013 · 92 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Tom Sante, Sarah Vergult, Pieter‐Jan Volders et al. · PLoS ONE · 2014 · 62 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

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

Frauke Coppieters, Kristof Van Schil, Miriam Bauwens et al. · Genetics in Medicine · 2014 · 58 citations · Full text

Medicine, Genetics, Molecular Genetics +17