Stella A de Man
Overview
Explore the profile of Stella A de Man including associated specialties, affiliations and a list of published articles.
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20
Citations
298
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Recent Articles
1.
Dingemans A, Truijen K, van de Ven S, Bernier R, Bongers E, Bouman A, et al.
Transl Psychiatry
. 2022 Oct;
12(1):421.
PMID: 36182950
CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and...
2.
Scala M, Drouot N, MacLennan S, Wessels M, Krygier M, Pavinato L, et al.
Hum Mutat
. 2022 May;
43(9):1299-1313.
PMID: 35607920
Alternative splicing (AS) is crucial for cell-type-specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity. De novo frameshift variants in NOVA2, encoding a neuron-specific key...
3.
Wei A, Wakenight P, Zwingman T, Bard A, Sahai N, Willemsen M, et al.
J Neurophysiol
. 2022 May;
128(1):40-61.
PMID: 35583973
We identified six novel de novo human variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These variants, comprising two nonsense and four missense...
4.
De Vrieze J, van de Laar I, de Rijk-van Andel J, Kamsteeg E, Kotsopoulos I, de Man S
Child Neurol Open
. 2021 Nov;
8:2329048X211048068.
PMID: 34761051
Neurologic disorders caused by mutations in the gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia,...
5.
Parenti I, Lehalle D, Nava C, Torti E, Leitao E, Person R, et al.
Hum Genet
. 2021 May;
140(7):1109-1120.
PMID: 33944996
Located in the critical 1p36 microdeletion region, the chromodomain helicase DNA-binding protein 5 (CHD5) gene encodes a subunit of the nucleosome remodeling and deacetylation (NuRD) complex required for neuronal development....
6.
Wessels M, Cnossen M, van Dijk T, Gillemans N, Schmidt K, van Lom K, et al.
Blood Adv
. 2021 May;
5(9):2339-2349.
PMID: 33938942
The BCL11A gene encodes a transcriptional repressor with essential functions in multiple tissues during human development. Haploinsufficiency for BCL11A causes Dias-Logan syndrome (OMIM 617101), an intellectual developmental disorder with hereditary...
7.
Rodriguez-Palmero A, Boerrigter M, Gomez-Andres D, Aldinger K, Marcos-Alcalde I, Popp B, et al.
Genet Med
. 2021 Feb;
23(5):888-899.
PMID: 33597769
Purpose: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with...
8.
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, et al.
Am J Hum Genet
. 2020 Jul;
107(3):544-554.
PMID: 32730804
RNA polymerase II interacts with various other complexes and factors to ensure correct initiation, elongation, and termination of mRNA transcription. One of these proteins is SR-related CTD-associated factor 4 (SCAF4),...
9.
Kuper W, van Alfen C, van Eck L, de Man S, Willemsen M, van Gassen K, et al.
JIMD Rep
. 2020 Mar;
52(1):23-27.
PMID: 32154056
Background: CLN3 disease is a disorder of lysosomal homeostasis predominantly affecting the retina and the brain. The severity of the underlying mutations in particularly determines onset and course of neurological...
10.
Hollink I, Alfadhel M, Al-Wakeel A, Ababneh F, Pfundt R, de Man S, et al.
J Hum Genet
. 2018 Mar;
63(4):539.
PMID: 29576627
Correction to: Journal of Human Genetics (2016) 61, 229-33 https://doi.org/10.1038/jhg.2015.134 ; published online 26 November 2015.