Jeroen van Reeuwijk
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Explore the profile of Jeroen van Reeuwijk including associated specialties, affiliations and a list of published articles.
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47
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2418
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Recent Articles
11.
Dingemans A, Hinne M, Jansen S, van Reeuwijk J, de Leeuw N, Pfundt R, et al.
Genet Med
. 2021 Dec;
24(3):645-653.
PMID: 34906484
Purpose: Although the introduction of exome sequencing (ES) has led to the diagnosis of a significant portion of patients with neurodevelopmental disorders (NDDs), the diagnostic yield in actual clinical practice...
12.
Latour B, Van De Weghe J, Rusterholz T, Letteboer S, Gomez A, Shaheen R, et al.
J Clin Invest
. 2020 May;
130(8):4423-4439.
PMID: 32453716
Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous...
13.
Corral-Serrano J, Lamers I, van Reeuwijk J, Duijkers L, Hoogendoorn A, Yildirim A, et al.
Proc Natl Acad Sci U S A
. 2020 Apr;
117(18):9922-9931.
PMID: 32312818
The outer segments (OS) of rod and cone photoreceptor cells are specialized sensory cilia that contain hundreds of opsin-loaded stacked membrane disks that enable phototransduction. The biogenesis of these disks...
14.
van Dam T, Kennedy J, van der Lee R, de Vrieze E, Wunderlich K, Rix S, et al.
PLoS One
. 2019 May;
14(5):e0216705.
PMID: 31095607
The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new...
15.
Stokman M, Van der Zwaag B, van de Kar N, van Haelst M, van Eerde A, van der Heijden J, et al.
Pediatr Nephrol
. 2018 Jul;
33(10):1701-1712.
PMID: 29974258
Background: Nephronophthisis is an autosomal recessive ciliopathy and important cause of end-stage renal disease (ESRD) in children and young adults. Diagnostic delay is frequent. This study investigates clinical characteristics, initial...
16.
Wills E, Te Morsche R, van Reeuwijk J, Horn N, Geomini I, van de Laarschot L, et al.
Hum Mol Genet
. 2017 Oct;
26(21):4190-4202.
PMID: 28973524
Mutations in the PRKCSH, SEC63 and LRP5 genes cause autosomal dominant polycystic liver disease (ADPLD). The proteins products of PRKCSH (alias GIIB) and SEC63 function in protein quality control and...
17.
Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen T, Texier Y, et al.
Nat Commun
. 2016 May;
7:11491.
PMID: 27173435
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defects cause genetic diseases....
18.
Schmidts M, Hou Y, Cortes C, Mans D, Huber C, Boldt K, et al.
Nat Commun
. 2016 Mar;
7:11270.
PMID: 27021811
No abstract available.
19.
Sanders A, de Vrieze E, AlAzami A, Alzahrani F, Malarkey E, Sorusch N, et al.
Genome Biol
. 2015 Dec;
16:293.
PMID: 26714646
Background: Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders...
20.
Zazo Seco C, Serrao de Castro L, van Nierop J, Morin M, Jhangiani S, Verver E, et al.
Am J Hum Genet
. 2015 Nov;
97(5):647-60.
PMID: 26522471
Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a heterozygous truncating mutation, c.286_303delinsT (p.Ser96Ter), in KITLG....