Marja W Wessels
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Explore the profile of Marja W Wessels including associated specialties, affiliations and a list of published articles.
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64
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2095
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Recent Articles
11.
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...
12.
Verhagen J, Burger J, Bekkers J, den Dekker A, von der Thusen J, Zajec M, et al.
Int J Mol Sci
. 2022 Jan;
23(1).
PMID: 35008861
Thoracic aortic aneurysm is a potentially life-threatening disease with a strong genetic contribution. Despite identification of multiple genes involved in aneurysm formation, little is known about the specific underlying mechanisms...
13.
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
Rumping L, Wessels M, Postma A, van Schuppen J, van Slegtenhorst M, Saris J, et al.
Am J Med Genet A
. 2021 Jul;
185(12):3814-3820.
PMID: 34254723
Terminal osseous dysplasia with pigmentary defects (TODPD), also known as digitocutaneous dysplasia, is one of the X-linked filaminopathies caused by a variety of FLNA-variants. TODPD is characterized by skeletal defects,...
14.
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...
15.
Massadeh S, Alhashem A, van de Laar I, Alhabshan F, Ordonez N, Alawbathani S, et al.
Clin Genet
. 2020 Apr;
98(1):56-63.
PMID: 32323311
Recently, ADAMTS19 was identified as a novel causative gene for autosomal recessive heart valve disease (HVD), affecting mainly the aortic and pulmonary valves. Exome sequencing and data repository (CentoMD) analyses...
16.
Bons L, Geenen L, van den Hoven A, Dik W, van den Bosch A, Duijnhouwer A, et al.
J Cardiol
. 2020 Apr;
76(3):287-294.
PMID: 32265086
Background: Patients with a bicuspid aortic valve (BAV) are at risk of developing valve deterioration and aortic dilatation. We aimed to investigate whether blood biomarkers are associated with disease stage...
17.
Kumar R, Palmer E, Gardner A, Carroll R, Banka S, Abdelhadi O, et al.
Front Mol Neurosci
. 2020 Mar;
13:12.
PMID: 32116545
Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer. We previously implicated missense and splicing-defective variants...
18.
Zenker M, Bunt J, Schanze I, Schanze D, Piper M, Priolo M, et al.
Am J Med Genet C Semin Med Genet
. 2019 Nov;
181(4):611-626.
PMID: 31730271
The nuclear factor one (NFI) site-specific DNA-binding proteins represent a family of transcription factors that are important for the development of multiple organ systems, including the brain. During brain development...
19.
Almomani R, Herkert J, Posafalvi A, Post J, Boven L, van der Zwaag P, et al.
J Med Genet
. 2019 Sep;
57(1):23-30.
PMID: 31494578
Background: Idiopathic dilated cardiomyopathy (DCM) is recognised to be a heritable disorder, yet clinical genetic testing does not produce a diagnosis in >50% of paediatric patients. Identifying a genetic cause...
20.
Verhagen J, van den Born M, der Linde H, Nikkels P, Verdijk R, Kivlen M, et al.
Circ Genom Precis Med
. 2019 Aug;
12(9):397-406.
PMID: 31461301
Background: Pediatric cardiomyopathies are a clinically and genetically heterogeneous group of heart muscle disorders associated with high morbidity and mortality. Although knowledge of the genetic basis of pediatric cardiomyopathy has...