Marjon van Slegtenhorst
Overview
Explore the profile of Marjon van Slegtenhorst including associated specialties, affiliations and a list of published articles.
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64
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1441
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Recent Articles
1.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, et al.
medRxiv
. 2024 Sep;
PMID: 39252907
Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary...
2.
Kalm T, Schob C, Voller H, Gardeitchik T, Gilissen C, Pfundt R, et al.
Am J Hum Genet
. 2024 May;
111(6):1206-1221.
PMID: 38772379
Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense...
3.
Bosman W, Franken G, de Las Heras J, Madariaga L, Barakat T, Oostenbrink R, et al.
Sci Rep
. 2024 Mar;
14(1):6917.
PMID: 38519529
Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype-phenotype relationship in affected individuals...
4.
Stegmann J, Kalanithy J, Dworschak G, Ishorst N, Mingardo E, Lopes F, et al.
NPJ Genom Med
. 2024 Mar;
9(1):18.
PMID: 38429302
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum...
5.
Albuainain F, Shi Y, Lor-Zade S, Huffmeier U, Pauly M, Reis A, et al.
Eur J Hum Genet
. 2024 Jan;
32(3):350-356.
PMID: 38200082
Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such...
6.
Fatalska A, Hodgson G, Freund S, Maslen S, Morgan T, Thorkelsson S, et al.
Mol Cell
. 2023 Dec;
84(3):506-521.e11.
PMID: 38159565
Regulated protein phosphorylation controls most cellular processes. The protein phosphatase PP1 is the catalytic subunit of many holoenzymes that dephosphorylate serine/threonine residues. How these enzymes recruit their substrates is largely...
7.
Harms F, Dingemans A, Hempel M, Pfundt R, Bierhals T, Casar C, et al.
Genet Med
. 2023 Sep;
25(11):100964.
PMID: 37728613
No abstract available.
8.
Almousa H, Lewis S, Bakhtiari S, Nordlie S, Pagnozzi A, Magee H, et al.
Brain
. 2023 Sep;
147(1):311-324.
PMID: 37713627
Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for normal development, particularly in the nervous system....
9.
Kassabian B, Fenger C, Willems M, Aledo-Serrano A, Linnankivi T, McDonnell P, et al.
Front Neurosci
. 2023 Aug;
17:1270299.
PMID: 37638311
[This corrects the article DOI: 10.3389/fnins.2023.1219262.].
10.
Claus L, Chen C, Stallworth J, Turner J, Slaats G, Hawks A, et al.
Kidney Int
. 2023 Aug;
104(5):995-1007.
PMID: 37598857
Autosomal dominant polycystic kidney disease (ADPKD) resulting from pathogenic variants in PKD1 and PKD2 is the most common form of PKD, but other genetic causes tied to primary cilia function...