Ellen van Binsbergen
Overview
Explore the profile of Ellen van Binsbergen including associated specialties, affiliations and a list of published articles.
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55
Citations
1692
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Recent Articles
1.
Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, et al.
Science
. 2024 Oct;
386(6721):516-525.
PMID: 39480921
Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core...
2.
Record C, OConnor A, Verbeek N, van Rheenen W, Zamba Papanicolaou E, Peric S, et al.
Ann Neurol
. 2024 Oct;
97(2):388-396.
PMID: 39444079
Biallelic variants in phosphatidylinositol glycan anchor biosynthesis, class G (PIGG) cause hypotonia, intellectual disability, seizures, and cerebellar features. We present 8 patients from 6 families with a childhood-onset motor neuropathy...
3.
Gong M, Li J, Qin Z, Machado Bressan Wilke M, Liu Y, Li Q, et al.
Am J Hum Genet
. 2024 Oct;
111(11):2392-2410.
PMID: 39419027
Microtubule affinity-regulating kinase 2 (MARK2) contributes to establishing neuronal polarity and developing dendritic spines. Although large-scale sequencing studies have associated MARK2 variants with autism spectrum disorder (ASD), the clinical features...
4.
Hoekstra S, Ettema F, van der Bijll M, van der Sterren V, van Binsbergen E, van Orsouw L, et al.
Spinal Cord
. 2024 Mar;
62(5):237-240.
PMID: 38491303
Study Design: A three-arm randomized controlled trial. Objectives: To investigate the effects of the Wim Hof Method (WHM), with (WHM-C) and without cold exposure (WHM-NC), on mental and physical health...
5.
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.
6.
Harms F, Dingemans A, Hempel M, Pfundt R, Bierhals T, Casar C, et al.
Genet Med
. 2023 Jul;
25(10):100927.
PMID: 37422718
Purpose: The SF3B splicing complex is composed of SF3B1-6 and PHF5A. We report a developmental disorder caused by de novo variants in PHF5A. Methods: Clinical, genomic, and functional studies using...
7.
Rots D, Jakub T, Keung C, Jackson A, Banka S, Pfundt R, et al.
Am J Hum Genet
. 2023 May;
110(6):963-978.
PMID: 37196654
De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but because every monogenic NDD is different and usually extremely rare, it remains a major challenge to understand the...
8.
Rossi A, Blok L, Neuser S, Klockner C, Platzer K, Faivre L, et al.
Clin Genet
. 2023 May;
104(2):186-197.
PMID: 37165752
POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype-phenotype correlations in individuals with POU3F3-related disorders. We recruited unpublished individuals...
9.
van Jaarsveld R, Reilly J, Cornips M, Hadders M, Agolini E, Ahimaz P, et al.
Genet Med
. 2022 Nov;
25(1):49-62.
PMID: 36322151
Purpose: Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epigenetic regulator and mouse models suggest an...
10.
Otsuji S, Nishio Y, Tsujita M, Rio M, Huber C, Anton-Plagaro C, et al.
J Med Genet
. 2022 Sep;
60(4):359-367.
PMID: 36113987
Purpose: The Retriever subunit is the third responsible gene for Ritscher-Schinzel syndrome (RSS) after and . To date, only one pair of siblings have been reported and their condition was...