Eva Z Jacobs
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Explore the profile of Eva Z Jacobs including associated specialties, affiliations and a list of published articles.
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9
Citations
42
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Recent Articles
1.
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...
2.
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...
3.
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...
4.
Van Breedam E, Nijak A, Buyle-Huybrecht T, Di Stefano J, Boeren M, Govaerts J, et al.
Neurotherapeutics
. 2022 Jun;
19(4):1433.
PMID: 35727488
No abstract available.
5.
Van Breedam E, Nijak A, Buyle-Huybrecht T, Di Stefano J, Boeren M, Govaerts J, et al.
Neurotherapeutics
. 2022 Mar;
19(2):550-569.
PMID: 35289376
Despite the considerable impact of stroke on both the individual and on society, a neuroprotective therapy for stroke patients is missing. This is partially due to the current lack of...
6.
Mus L, Van Haver S, Popovic M, Trypsteen W, Lefever S, Zeltner N, et al.
Genes Chromosomes Cancer
. 2020 Dec;
60(4):272-281.
PMID: 33336840
Human embryonic stem cells (hESCs) and embryonal tumors share a number of common features, including a compromised G1/S checkpoint. Consequently, these rapidly dividing hESCs and cancer cells undergo elevated levels...
7.
Jacobs E, Brown K, Byler M, Dhaenens E, Dheedene A, Henderson L, et al.
Clin Genet
. 2020 Nov;
99(2):259-268.
PMID: 33131045
The CAMTA1-associated phenotype was initially defined in patients with intragenic deletions and duplications who showed nonprogressive congenital ataxia, with or without intellectual disability. Here, we describe 10 individuals with CAMTA1...
8.
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...
9.
Dhaene E, Jacobs E, Volders P, De Meyer T, Menten B, Vergult S
Sci Rep
. 2016 Jun;
6:28396.
PMID: 27319317
Recently, exome sequencing led to the identification of causal mutations in 16-31% of patients with intellectual disability (ID), leaving the underlying cause for many patients unidentified. In this context, the...