Raymon Vijzelaar - Concepedia

Concepedia

Author

Raymon Vijzelaar

MRC Holland (Netherlands)ORCID

Also Known As

R Vijzelaar, R. N. C. P. Vijzelaar, R. VIJZELAAR, R. Vijzelaar, Raymon N. C. P. Vijzelaar, Raymon Vijzelaar

41

Publications

1.8K

Citations

18

H-Index

51

Concepts

All Affiliations

MRC Holland (Netherlands)Radboud University Nijmegen Radboud University Medical Center University Medical Center Utrecht Emma Kinderziekenhuis

RV

About

Raymon Vijzelaar is an author at MRC Holland (Netherlands) specializing in medicine, genetics, and molecular diagnostics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	364
2	Engineering	4	4	220
3	Public Health	1	1	18
4	Cell Biology	1	1	18
5	Genetic Medicine	1	1	18

Raymon Vijzelaar

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27

Publications

1.8K

Citations

18

H-Index

	Year	Citations
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> Yanick J. Crow, Diana Chase, Johanna L. Schmidt, American Journal of Medical Genetics Part A	2015	589
Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency Nils Krone, Nicole Reisch, Jan Idkowiak, The Journal of Clinical Endocrinology & Metabolism	2011	163
Detailed analysis of 22q11.2 with a high density MLPA probe set G R Jalali, Jacob Vorstman, Ab Errami, Human Mutation	2007	116
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity André B. P. Kuilenburg, Judith Meijer, Adri N. Mul, Human Genetics	2010	112
Molecular profiling of invasive breast cancer by multiplex ligation-dependent probe amplification-based copy number analysis of tumor suppressor and oncogenes Cathy B. Moelans, Roel A. de Weger, Hanneke N. Monsuur, Modern Pathology Breast OncologyOncologyEngineeringInvasive Breast CancerTumor Heterogeneity	2010	94
Intragenic <i>KANSL1</i> mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi, Journal of Medical Genetics	2015	80
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy Renske I. Wadman, Marc Jansen, Marloes Stam, Brain Communications	2020	75
Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation Suparna Martis, Hao Mei, Raymon Vijzelaar, The Pharmacogenomics Journal Novel Pharmacogenetic AllelesGenetic AnalysisAllelic VariantEngineeringMedicine	2012	63
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) André B. P. Kuilenburg, Judith Meijer, Adri N. Mul, Human Genetics	2009	60
Development of Multiplex Assay for Rapid Characterization of<i>Mycobacterium tuberculosis</i> Indra Bergval, Raymon Vijzelaar, Elis Regina Dalla Costa, Journal of Clinical Microbiology Multiplex TechnologyEngineeringPathologyDiagnosticsMultiplex Assay	2007	45

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