Sarah Vergult
Sarah Vergult
Postdoctoral Researcher, Ghent University
Verified email at
Cited by
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The need for transparency and good practices in the qPCR literature
SA Bustin, V Benes, J Garson, J Hellemans, J Huggett, M Kubista, ...
Nature methods 10 (11), 1063-1067, 2013
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms
WP Kloosterman, M Tavakoli-Yaraki, MJ Van Roosmalen, ...
Cell reports 1 (6), 648-655, 2012
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ...
Nature genetics 49 (1), 36-45, 2017
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
G Beunders, E Voorhoeve, C Golzio, LM Pardo, JA Rosenfeld, ...
The American Journal of Human Genetics 92 (2), 210-220, 2013
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ...
Nature genetics 49 (10), 1529, 2017
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
AT Vulto-van Silfhout, S Rajamanickam, PJ Jensik, S Vergult, ...
The American Journal of Human Genetics 94 (5), 649-661, 2014
Two Siblings with Homozygous Pathogenic Splice‐Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2)
AV Vanlander, B Menten, J Smet, L De Meirleir, T Sante, B De Paepe, ...
Human mutation 36 (2), 222-231, 2015
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
S Vergult, A Dheedene, A Meurs, F Faes, B Isidor, S Janssens, A Gautier, ...
European Journal of Human Genetics 23 (5), 628-632, 2015
Array comparative genomic hybridization in male infertility
K Stouffs, D Vandermaelen, A Massart, B Menten, S Vergult, H Tournaye, ...
Human reproduction 27 (3), 921-929, 2012
Identification of long non-coding RNAs involved in neuronal development and intellectual disability
E D’haene, EZ Jacobs, PJ Volders, T De Meyer, B Menten, S Vergult
Scientific reports 6 (1), 1-12, 2016
ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation
T Sante, S Vergult, PJ Volders, WP Kloosterman, G Trooskens, ...
PloS one 9 (12), e113800, 2014
Identification of a novel recurrent 1q42. 2‐1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas
A Fieuw, C Kumps, A Schramm, F Pattyn, B Menten, F Antonacci, ...
International journal of cancer 130 (11), 2599-2606, 2012
17q24. 2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
S Vergult, A Dauber, B Delle Chiaie, E Van Oudenhove, M Simon, ...
European Journal of Human Genetics 20 (5), 534-539, 2012
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
N De Rocker, S Vergult, D Koolen, E Jacobs, A Hoischen, S Zeesman, ...
Genetics in Medicine 17 (6), 460-466, 2015
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
S Vergult, E Van Binsbergen, T Sante, S Nowak, O Vanakker, K Claes, ...
European Journal of Human Genetics 22 (5), 652-659, 2014
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination
F Coppieters, G Ascari, K Dannhausen, K Nikopoulos, F Peelman, ...
The American Journal of Human Genetics 99 (2), 470-480, 2016
Genomic and functional overlap between somatic and germline chromosomal rearrangements
S van Heesch, M Simonis, MJ van Roosmalen, V Pillalamarri, H Brand, ...
Cell reports 9 (6), 2001-2010, 2014
New insights into the phenotype of FARS2 deficiency
E Vantroys, A Larson, M Friederich, K Knight, MA Swanson, CA Powell, ...
Molecular genetics and metabolism 122 (4), 172-181, 2017
Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines
A De Weer, B Poppe, S Vergult, P Van Vlierberghe, M Petrick, R De Bock, ...
PLoS One 5 (1), e8676, 2010
Familial cases of a submicroscopic Xp22. 2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
S Vergult, B Leroy, I Claerhout, B Menten
Molecular Vision 19, 311, 2013
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