Geert Geeven
Overview
Explore the profile of Geert Geeven including associated specialties, affiliations and a list of published articles.
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29
Citations
1097
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Recent Articles
1.
Schot R, Ferraro F, Geeven G, Diderich K, Barakat T
Clin Genet
. 2024 Jun;
106(4):512-517.
PMID: 38859706
Despite increasing knowledge of disease-causing genes in human genetics, approximately half of the individuals affected by neurodevelopmental disorders remain genetically undiagnosed. Part of this missing heritability might be caused by...
2.
Faas B, Astuti G, Melchers W, Reuss A, Gilissen C, Macville M, et al.
EBioMedicine
. 2024 Feb;
100:104983.
PMID: 38365322
Background: Prenatal hCMV infections can lead to severe embryopathy and neurological sequelae in neonates. Screening during pregnancy is not recommended by global societies, as there is no effective therapy. Recently,...
3.
Eggenhuizen G, Go A, Sauter Z, Hoffer M, Haak M, Geeven G, et al.
Prenat Diagn
. 2024 Feb;
44(3):289-296.
PMID: 38342960
Objective: To evaluate which cytogenetic characteristics of confined placental mosaicism (CPM) detected in the first trimester chorionic villi and/or placentas in terms of chromosome aberration, cell lineage involved and trisomy...
4.
de Bruyn D, van Poppelen N, Brands T, van den Boom S, Eikenboom E, Wagner A, et al.
Invest Ophthalmol Vis Sci
. 2024 Feb;
65(2):11.
PMID: 38319670
Purpose: Uveal melanoma (UM) has a high propensity to metastasize. Prognosis is associated with specific driver mutations and copy number variations (CNVs), but limited primary tumor tissue is available for...
5.
Mocholi E, Russo L, Gopal K, Ramstead A, Hochrein S, Vos H, et al.
Cell Rep
. 2023 Jun;
42(6):112583.
PMID: 37267106
Upon antigen-specific T cell receptor (TCR) engagement, human CD4 T cells proliferate and differentiate, a process associated with rapid transcriptional changes and metabolic reprogramming. Here, we show that the generation...
6.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kuhn N, et al.
Acta Neuropathol
. 2023 Apr;
146(2):353-368.
PMID: 37119330
Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present with lower limb spasticity and muscle weakness due to motor neuron dysfunction. Whole genome sequencing identified...
7.
Dekker J, Schot R, Bongaerts M, De Valk W, van Veghel-Plandsoen M, Monfils K, et al.
Am J Hum Genet
. 2023 Jan;
110(2):251-272.
PMID: 36669495
For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management, predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a genetic diagnosis in NDDs. Transcriptome analysis (RNA...
8.
Hall A, Chaffin M, Roselli C, Lin H, Lubitz S, Bianchi V, et al.
Circ Genom Precis Med
. 2020 Nov;
13(6):e003085.
PMID: 33155827
Background: Atrial fibrillation (AF) often arises from structural abnormalities in the left atria (LA). Annotation of the noncoding genome in human LA is limited, as are effects on gene expression...
9.
Castelijns B, Baak M, Geeven G, Vermunt M, Wiggers C, Timpanaro I, et al.
Cell Rep
. 2020 Jun;
31(12):107799.
PMID: 32579926
Mutations in non-coding regulatory DNA such as enhancers underlie a wide variety of diseases including developmental disorders and cancer. As enhancers rapidly evolve, understanding their function and configuration in non-human...
10.
Castelijns B, Baak M, Timpanaro I, Wiggers C, Vermunt M, Shang P, et al.
Nat Commun
. 2020 Jan;
11(1):301.
PMID: 31949148
Speciation is associated with substantial rewiring of the regulatory circuitry underlying the expression of genes. Determining which changes are relevant and underlie the emergence of the human brain or its...