Raymon Vijzelaar
MRC Holland (Netherlands)(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Biochemical and Molecular Research, Genomics and Rare Diseases, Blood groups and transfusion, Metabolism and Genetic Disorders
Most-Cited Works
- → Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency(2011)164 cited
- → Detailed analysis of 22q11.2 with a high density MLPA probe set(2007)116 cited
- → Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity(2010)112 cited
- → Molecular profiling of invasive breast cancer by multiplex ligation-dependent probe amplification-based copy number analysis of tumor suppressor and oncogenes(2010)94 cited
- → Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients(2015)80 cited
- → Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy(2020)76 cited
- → Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation(2012)63 cited
- → Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)(2009)61 cited
- → Development of Multiplex Assay for Rapid Characterization ofMycobacterium tuberculosis(2007)45 cited
- → Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty(2016)41 cited