Richard H van Jaarsveld
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Explore the profile of Richard H van Jaarsveld including associated specialties, affiliations and a list of published articles.
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33
Citations
1149
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Recent Articles
1.
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...
2.
Werren E, Peirent E, Jantti H, Guxholli A, Srivastava K, Orenstein N, et al.
Cell Death Dis
. 2024 May;
15(5):379.
PMID: 38816421
CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central...
3.
van der Smagt J, Lampri A, de Lange I, Alders M, Houben M, Koudijs M, et al.
Eur J Med Genet
. 2024 May;
69:104949.
PMID: 38797245
Variation in the non-coding genome is being increasingly recognized to be involved in monogenic disease etiology. However, the interpretation of non-coding variation is complicated by a lack of understanding of...
4.
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...
5.
Asmar A, Abrams S, Hsin J, Collins J, Yazejian R, Wu Y, et al.
Nat Commun
. 2023 Jul;
14(1):4499.
PMID: 37495603
The molecular mechanisms that coordinate patterning of the embryonic ectoderm into spatially distinct lineages to form the nervous system, epidermis, and neural crest-derived craniofacial structures are unclear. Here, biochemical disease-variant...
6.
Ebstein F, Kury S, Most V, Rosenfelt C, Scott-Boyer M, van Woerden G, et al.
Sci Transl Med
. 2023 May;
15(698):eabo3189.
PMID: 37256937
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) termed PSMC1-6, which...
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.
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...
9.
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...
10.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe J, et al.
Brain
. 2022 Aug;
146(2):534-548.
PMID: 35979925
We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM*601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation...