Sarah Vergult
Sarah Vergult
Postdoctoral Researcher, Ghent University
Verified email at ugent.be
Title
Cited by
Cited by
Year
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
2162013
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
1792012
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
1442017
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
1132013
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
742017
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
572014
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
392015
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
372015
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
372012
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
362016
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
352014
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
342012
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
302012
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
292015
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
292014
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
272016
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
232014
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
202017
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
202010
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
192013
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