Sarah Vergult
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Explore the profile of Sarah Vergult including associated specialties, affiliations and a list of published articles.
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43
Citations
1116
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Recent Articles
1.
Wils G, Hamerlinck L, Trypsteen W, Van Den Eeckhaut C, Weiss J, Nour A, et al.
Methods Mol Biol
. 2025 Feb;
2880:17-47.
PMID: 39900753
Induced pluripotent stem cells (iPSCs) have the potential to differentiate into any cell type, offering a valuable tool for research in developmental biology, regenerative medicine, and disease modeling. In this...
2.
Verlee M, Dhaenens E, De Cock L, Mosquera L, De Groote K, Vandekerckhove K, et al.
Eur J Hum Genet
. 2025 Jan;
PMID: 39870876
The etiology of congenital heart disease (CHD) is complex, comprising both genetic and environmental factors. Despite documented familial occurrences, the genetic etiology remains largely elusive. Trio exome sequencing identified a...
3.
Maria Del Rocio P, Palomares Bralo M, Vanhooydonck M, Hamerlinck L, Dhaene E, Leimbacher S, et al.
medRxiv
. 2024 Aug;
PMID: 39148819
8q21.11 microdeletions encompassing the gene encoding transcription factor ZFHX4, have previously been associated by us with a syndromic form of intellectual disability, hypotonia, decreased balance and hearing loss. Here, we...
4.
Dhaene E, Lopez-Soriano V, Martinez-Garcia P, Kalayanamontri S, Duenas Rey A, Sousa-Ortega A, et al.
Genome Biol
. 2024 May;
25(1):123.
PMID: 38760655
Background: Vision depends on the interplay between photoreceptor cells of the neural retina and the underlying retinal pigment epithelium (RPE). Most genes involved in inherited retinal diseases display specific spatiotemporal...
5.
Perez Baca M, Jacobs E, Vantomme L, LeBlanc P, Bogaert E, Dheedene A, et al.
Am J Hum Genet
. 2024 Feb;
111(3):509-528.
PMID: 38412861
Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function (LoF) variation in ZFHX3 as a cause for syndromic intellectual disability (ID). ZFHX3 is...
6.
Wilderman A, Dhaene E, Baetens M, Yankee T, Winchester E, Glidden N, et al.
Nat Commun
. 2024 Jan;
15(1):136.
PMID: 38167838
Craniofacial abnormalities account for approximately one third of birth defects. The regulatory programs that build the face require precisely controlled spatiotemporal gene expression, achieved through tissue-specific enhancers. Clusters of coactivated...
7.
Perez Baca M, Jacobs E, Vantomme L, LeBlanc P, Bogaert E, Dheedene A, et al.
medRxiv
. 2023 Jun;
PMID: 37292950
Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function variation in as a novel cause for syndromic intellectual disability (ID). ZFHX3, previously known...
8.
Mohajeri K, Yadav R, Dhaene E, Boone P, Erdin S, Gao D, et al.
Am J Hum Genet
. 2022 Oct;
109(11):2049-2067.
PMID: 36283406
Point mutations and structural variants that directly disrupt the coding sequence of MEF2C have been associated with a spectrum of neurodevelopmental disorders (NDDs). However, the impact of MEF2C haploinsufficiency on...
9.
Van de Sompele S, Small K, Cicekdal M, Lopez Soriano V, Dhaene E, Shaya F, et al.
Am J Hum Genet
. 2022 Oct;
109(11):2029-2048.
PMID: 36243009
North Carolina macular dystrophy (NCMD) is a rare autosomal-dominant disease affecting macular development. The disease is caused by non-coding single-nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by...
10.
Hirsch N, Dahan I, Dhaene E, Avni M, Vergult S, Vidal-Garcia M, et al.
Genome Res
. 2022 Jun;
32(7):1242-1253.
PMID: 35710300
Structural variants (SVs) can affect protein-coding sequences as well as gene regulatory elements. However, SVs disrupting protein-coding sequences that also function as -regulatory elements remain largely uncharacterized. Here, we show...