Lies Vantomme
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Explore the profile of Lies Vantomme including associated specialties, affiliations and a list of published articles.
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10
Citations
61
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Recent Articles
1.
De Clercq G, Vantomme L, Dewaele B, Callewaert B, Vanakker O, Janssens S, et al.
Sci Rep
. 2024 Nov;
14(1):29142.
PMID: 39587234
Structural variants (SVs) are important contributors to human disease. Their characterization remains however difficult due to their size and association with repetitive regions. Long-read sequencing (LRS) and optical genome mapping...
2.
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...
3.
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...
4.
Ingels J, De Cock L, Stevens D, Mayer R, Thery F, Sanchez Sanchez G, et al.
Cell Rep Med
. 2024 Apr;
5(5):101516.
PMID: 38626769
Non-small cell lung cancer (NSCLC) is known for high relapse rates despite resection in early stages. Here, we present the results of a phase I clinical trial in which a...
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.
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...
7.
Dhaene E, Bar-Yaacov R, Bariah I, Vantomme L, Van Loo S, Avila Cobos F, et al.
Hum Mol Genet
. 2020 Feb;
29(5):879-880.
PMID: 32031622
No abstract available.
8.
Dhaene E, Bar-Yaacov R, Bariah I, Vantomme L, Van Loo S, Avila Cobos F, et al.
Hum Mol Genet
. 2018 Nov;
28(5):818-827.
PMID: 30445463
Mutations in myocyte enhancer factor 2C (MEF2C), an important transcription factor in neurodevelopment, are associated with a Rett-like syndrome. Structural variants (SVs) upstream of MEF2C, which do not disrupt the...
9.
Jacobs E, Warrier S, Volders P, Dhaene E, Van Lombergen E, Vantomme L, et al.
Sci Rep
. 2017 Dec;
7(1):16650.
PMID: 29192200
The combination of genome-edited human embryonic stem cells (hESCs) and subsequent neural differentiation is a powerful tool to study neurodevelopmental disorders. Since the naïve state of pluripotency has favourable characteristics...
10.
Vanlander A, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, et al.
Hum Mutat
. 2014 Nov;
36(2):222-31.
PMID: 25385316
A homozygous missense mutation (c.822G>C) was found in the gene encoding the mitochondrial asparaginyl-tRNA synthetase (NARS2) in two siblings born to consanguineous parents. These siblings presented with different phenotypes: one...