Silvana van Koningsbruggen
Overview
Explore the profile of Silvana van Koningsbruggen including associated specialties, affiliations and a list of published articles.
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20
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1322
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Recent Articles
1.
Verhoeven D, Schonenberg-Meinema D, Ebstein F, Papendorf J, Baars P, van Leeuwen E, et al.
J Allergy Clin Immunol
. 2021 Aug;
149(3):1120-1127.e8.
PMID: 34416217
Background: Proteasome-associated autoinflammatory syndromes (PRAASs) form a family of recently described rare autosomal recessive disorders of disturbed proteasome assembly and proteolytic activity caused by mutations in genes coding for proteasome...
2.
van de Burgt N, van Koningsbruggen S, Behrens L, Leibold N, Martinez-Martinez P, Mannens M, et al.
J Psychiatr Res
. 2021 Apr;
138:125-129.
PMID: 33848968
Inborn errors of metabolism (IEMs) are a group of rare genetic disorders which, when emerging later in life, are often characterized by neuropsychiatric manifestations including psychosis. This study aimed to...
3.
Ten Dam L, de Visser M, Ginjaar I, van Duyvenvoorde H, van Koningsbruggen S, van der Kooi A
J Neuromuscul Dis
. 2021 Jan;
8(2):261-272.
PMID: 33386810
Background: A Dutch cohort of 105 carefully selected limb girdle muscular dystrophy (LGMD) patients from 68 families has been subject to genetic testing over the last 20 years. After subsequent...
4.
Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, et al.
J Med Genet
. 2020 May;
57(12):808-819.
PMID: 32409512
Introduction: Pigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko's lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the...
5.
Lubout C, Goorden S, van den Hurk K, Jaeger B, Jager N, van Koningsbruggen S, et al.
Pediatr Neurol
. 2019 Aug;
102:62-66.
PMID: 31371121
Background: Hereditary folate malabsorption is a multisystem disease owing to biallelic variants in the gene encoding the proton-coupled folate transporter. Hereditary folate malabsorption is treated with folinic acid, aimed to...
6.
Duijkers F, McDonald A, Janssens G, Lezzerini M, Jongejan A, van Koningsbruggen S, et al.
Am J Hum Genet
. 2019 May;
104(6):1040-1059.
PMID: 31079900
The heterogeneous nuclear ribonucleoprotein (HNRNP) genes code for a set of RNA-binding proteins that function primarily in the spliceosome C complex. Pathogenic variants in these genes can drive neurodegeneration, through...
7.
ODonnell-Luria A, Pais L, Faundes V, Wood J, Sveden A, Luria V, et al.
Am J Hum Genet
. 2019 May;
104(6):1210-1222.
PMID: 31079897
We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and...
8.
Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, et al.
Genet Med
. 2019 Apr;
21(10):2355-2363.
PMID: 30940925
Purpose: A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing...
9.
Villegas F, Lehalle D, Mayer D, Rittirsch M, Stadler M, Zinner M, et al.
Cell Stem Cell
. 2019 Jan;
24(2):257-270.e8.
PMID: 30595499
Self-renewal and differentiation of pluripotent murine embryonic stem cells (ESCs) is regulated by extrinsic signaling pathways. It is less clear whether cellular metabolism instructs developmental progression. In an unbiased genome-wide...
10.
Ferrer C, Alders M, Postma A, Park S, Klein M, Cetinbas M, et al.
Genes Dev
. 2018 Mar;
32(5-6):373-388.
PMID: 29555651
It has been well established that histone and DNA modifications are critical to maintaining the equilibrium between pluripotency and differentiation during early embryogenesis. Mutations in key regulators of DNA methylation...