Raymon Vijzelaar
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 21 publications
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.
Journal: JCO precision oncology
Published: May 06, 2024
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.
Journal: NPJ genomic medicine
Published: September 26, 2023
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 27, 2022
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
Journal: NPJ genomic medicine
Published: February 25, 2022
SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis.
Journal: Neurology. Genetics
Published: January 21, 2021
Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population.
Journal: Cancer chemotherapy and pharmacology
Published: November 05, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Journal: Brain communications
Published: February 19, 2020
The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.
Journal: PloS one
Published: April 05, 2019
Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.
Journal: Pharmacogenomics
Published: February 08, 2019
Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification.
Journal: Pharmacogenomics
Published: May 24, 2018
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.
Journal: Molecular genetics and metabolism
Published: August 16, 2016
Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.
Journal: The Journal of clinical endocrinology and metabolism
Published: March 23, 2016
Last Updated: 09/26/2026