Marjolein Willemsen
Overview
Explore the profile of Marjolein Willemsen including associated specialties, affiliations and a list of published articles.
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10
Citations
139
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Recent Articles
1.
Dingemans A, Jansen S, van Reeuwijk J, de Leeuw N, Pfundt R, Schuurs-Hoeijmakers J, et al.
Nat Med
. 2024 May;
30(7):1994-2003.
PMID: 38745008
The prevalence of comorbidities in individuals with neurodevelopmental disorders (NDDs) is not well understood, yet these are important for accurate diagnosis and prognosis in routine care and for characterizing the...
2.
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld R, van Gassen K, et al.
Genet Med
. 2022 May;
24(8):1774-1780.
PMID: 35567594
Purpose: SRRM2 encodes the SRm300 protein, a splicing factor of the SR-related protein family characterized by its serine- and arginine-enriched domains. It promotes interactions between messenger RNA and the spliceosome...
3.
Melland H, Bumbak F, Kolesnik-Taylor A, Ng-Cordell E, John A, Constantinou P, et al.
Genet Med
. 2022 Feb;
24(4):880-893.
PMID: 35101335
Purpose: Synaptotagmin-1 (SYT1) is a critical mediator of neurotransmitter release in the central nervous system. Previously reported missense SYT1 variants in the C2B domain are associated with severe intellectual disability,...
4.
Willemsen M, Van De Maele K, Vandenplas Y
Pediatr Gastroenterol Hepatol Nutr
. 2022 Jan;
25(1):13-20.
PMID: 35087729
Purpose: Hydrogen-methane breath tests are used to diagnose carbohydrate malabsorption and small intestinal bacterial overgrowth. The COVID-19 pandemic has driven the modification of procedures as breath tests are potentially aerosol-generating...
5.
Weerts M, Lanko K, Guzman-Vega F, Jackson A, Ramakrishnan R, Cardona-Londono K, et al.
Genet Med
. 2021 Aug;
23(11):2122-2137.
PMID: 34345025
Purpose: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients...
6.
Lessel D, Zeitler D, Reijnders M, Kazantsev A, Hassani Nia F, Bartholomaus A, et al.
Nat Commun
. 2020 Nov;
11(1):5797.
PMID: 33199684
ARGONAUTE-2 and associated miRNAs form the RNA-induced silencing complex (RISC), which targets mRNAs for translational silencing and degradation as part of the RNA interference pathway. Despite the essential nature of...
7.
Li X, Poschmann S, Chen Q, Fazeli W, Oundjian N, Snoeijen-Schouwenaars F, et al.
Eur J Hum Genet
. 2018 Jan;
26(2):220-229.
PMID: 29330545
Epilepsy is one of the most common neurological diseases and it causes profound morbidity and mortality. We identified the first de novo variant in KCNMA1 (c.2984 A > G (p.(N995S)))-encoding...
8.
De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, et al.
Genet Med
. 2014 Sep;
17(6):460-6.
PMID: 25232846
Purpose: Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is believed to be a critical gene responsible for intellectual disability, so far...
9.
Kleefstra T, de Leeuw N, Wolf R, Nillesen W, Schobers G, Mieloo H, et al.
Am J Med Genet A
. 2010 Aug;
152A(9):2221-9.
PMID: 20683990
Supernumerary marker chromosomes (SMC) originating from chromosome 15 are the most common SMCs. They encompass clinically irrelevant SMC(15)s containing only heterochromatin and 15p material, and clinically relevant SMC(15)s that consist...
10.
Willemsen M, Rodenburg R, Teszas A, van den Heuvel L, Kosztolanyi G, Morava E
Mitochondrion
. 2006 May;
6(3):155-9.
PMID: 16713755
Biochemical analysis was performed in muscle tissue and in fibroblasts of four unrelated females consecutively diagnosed with a 'de novo' point mutation in the PDHA1 gene. Pyruvate dehydrogenase E1 subunit...