Raymon Vijzelaar
Overview
Explore the profile of Raymon Vijzelaar including associated specialties, affiliations and a list of published articles.
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29
Citations
681
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Recent Articles
1.
van Kuilenburg A, Pleunis-van Empel M, Brouwer R, Sijben A, Knapen D, Oude Munnink T, et al.
JCO Precis Oncol
. 2024 May;
8:e2300599.
PMID: 38709992
A DPD deficiency should be considered in case of severe toxicity even in the absence of common risk variants in DPYD.
2.
Haer-Wigman L, Ouden A, Derks R, van Genderen M, Lugtenberg D, Verheij J, et al.
NPJ Genom Med
. 2024 May;
9(1):29.
PMID: 38704388
No abstract available.
3.
Haer-Wigman L, Ouden A, van Genderen M, Kroes H, Verheij J, Smailhodzic D, et al.
NPJ Genom Med
. 2022 Nov;
7(1):65.
PMID: 36351915
Pathogenic variants in the OPN1LW/OPN1MW gene cluster are causal for a range of mild to severe visual impairments with color deficiencies. The widely utilized short-read next-generation sequencing (NGS) is inappropriate...
4.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan A, Stingl K, et al.
Proc Natl Acad Sci U S A
. 2022 Jun;
119(27):e2115538119.
PMID: 35759666
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor...
5.
Bos J, Groen E, Wadman R, Curial C, Molleman N, Zegers M, et al.
Neurol Genet
. 2021 Jun;
7(4):e598.
PMID: 34169148
Objective: To assess the association between copy number (CN) variation in the survival motor neuron () locus and multifocal motor neuropathy (MMN), progressive muscular atrophy (PMA), and primary lateral sclerosis...
6.
Saarenheimo J, Wahid N, Eigeliene N, Ravi R, Salomons G, Fernandez Ojeda M, et al.
Cancer Chemother Pharmacol
. 2021 Feb;
87(5):657-663.
PMID: 33544210
Capecitabine is a fluoropyrimidine that is widely used as a cancer drug for the treatment of patients with a variety of cancers. Unfortunately, early onset, severe or life-threatening toxicity is...
7.
Intragenic and structural variation in the locus and clinical variability in spinal muscular atrophy
Wadman R, Jansen M, Stam M, Wijngaarde C, Curial C, Medic J, et al.
Brain Commun
. 2020 Sep;
2(2):fcaa075.
PMID: 32954327
Clinical severity and treatment response vary significantly between patients with spinal muscular atrophy. The approval of therapies and the emergence of neonatal screening programmes urgently require a more detailed understanding...
8.
Vijzelaar R, Snetselaar R, Clausen M, Mason A, Rinsma M, Zegers M, et al.
PLoS One
. 2019 Jul;
14(7):e0220211.
PMID: 31339938
Spinal Muscular Atrophy (SMA) is a disorder characterized by the degeneration of motor neurons in the spinal cord, leading to muscular atrophy. In the majority of cases, SMA is caused...
9.
Qiao W, Martis S, Mendiratta G, Shi L, Botton M, Yang Y, et al.
Pharmacogenomics
. 2019 Feb;
20(1):9-20.
PMID: 30730286
Aim: To comprehensively interrogate CYP2D6 by integrating genotyping, copy number analysis and novel strategies to identify CYP2D6*36 and characterize CYP2D6 duplications. Methods: Genotyping of 16 CYP2D6 alleles, multiplex ligation-dependent probe...
10.
Vijzelaar R, Botton M, Stolk L, Martis S, Desnick R, Scott S
Pharmacogenomics
. 2018 May;
19(9):761-770.
PMID: 29790428
Aim: To develop a SULT1A1 multiplex ligation-dependent probe amplification assay and to investigate multi-ethnic copy number variant frequencies. Methods: A novel multiplex ligation-dependent probe amplification assay was developed and tested...