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Sarah Vergult
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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
3072013
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
3042017
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
2282012
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), 1529-1538, 2017
1922017
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
1752013
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
772014
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
692015
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
642015
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
602015
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
572014
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), 28396, 2016
552016
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
512012
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
492016
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
472012
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
462014
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
422017
17q24. 2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
S Vergult, A Dauber, BD Chiaie, E Van Oudenhove, M Simon, A Rihani, ...
European Journal of Human Genetics 20 (5), 534-539, 2012
402012
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
G Costain, B Callewaert, H Gabriel, TY Tan, S Walker, J Christodoulou, ...
Genetics in Medicine 21 (4), 1021-1026, 2019
362019
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
MF Basilicata, AL Bruel, G Semplicio, CIK Valsecchi, T Aktaş, Y Duffourd, ...
Nature genetics 50 (10), 1442-1451, 2018
352018
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
E D’haene, S Vergult
Genetics in Medicine 23 (1), 34-46, 2021
342021
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