| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 559 | 2015 |
| Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences AOH Nygren, N Ameziane, HMB Duarte, RNCP Vijzelaar, Q Waisfisz, ... Nucleic acids research 33 (14), e128-e128, 2005 | 500 | 2005 |
| Clinical and mutational spectrum of neurofibromatosis type 1–like syndrome L Messiaen, S Yao, H Brems, T Callens, A Sathienkijkanchai, E Denayer, ... Jama 302 (19), 2111-2118, 2009 | 215 | 2009 |
| Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency N Krone, N Reisch, J Idkowiak, V Dhir, HE Ivison, BA Hughes, IT Rose, ... The Journal of Clinical Endocrinology & Metabolism 97 (2), E257-E267, 2012 | 137 | 2012 |
| Detailed analysis of 22q11. 2 with a high density MLPA probe set GR Jalali, JAS Vorstman, AB Errami, R Vijzelaar, J Biegel, T Shaikh, ... Human mutation 29 (3), 433-440, 2008 | 134 | 2008 |
| Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity ABP van Kuilenburg, J Meijer, ANPM Mul, R Meinsma, V Schmid, ... Human genetics 128, 529-538, 2010 | 128 | 2010 |
| Molecular profiling of invasive breast cancer by multiplex ligation-dependent probe amplification-based copy number analysis of tumor suppressor and oncogenes CB Moelans, RA De Weger, HN Monsuur, R Vijzelaar, PJ Van Diest Modern pathology 23 (7), 1029-1039, 2010 | 115 | 2010 |
| Development of Multiplex Assay for Rapid Characterization of Mycobacterium tuberculosis IL Bergval, R Vijzelaar, ER Dalla Costa, ARJ Schuitema, L Oskam, ... Journal of clinical microbiology 46 (2), 689-699, 2008 | 89 | 2008 |
| Intragenic KANSL1 mutations and chromosome 17q21. 31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients M Zollino, G Marangi, E Ponzi, D Orteschi, S Ricciardi, S Lattante, ... Journal of medical genetics 52 (12), 804-814, 2015 | 56 | 2015 |
| Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation S Martis, H Mei, R Vijzelaar, L Edelmann, RJ Desnick, SA Scott The pharmacogenomics journal 13 (6), 558-566, 2013 | 55 | 2013 |
| Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial … ABP van Kuilenburg, J Meijer, ANPM Mul, RCM Hennekam, JMN Hoovers, ... Human genetics 125, 581-590, 2009 | 55 | 2009 |
| Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy RI Wadman, MD Jansen, M Stam, CA Wijngaarde, CAD Curial, J Medic, ... Brain communications 2 (2), fcaa075, 2020 | 41 | 2020 |
| The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent R Vijzelaar, R Snetselaar, M Clausen, AG Mason, M Rinsma, M Zegers, ... PLoS One 14 (7), e0220211, 2019 | 39 | 2019 |
| High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome V Parri, E Katzaki, V Uliana, F Scionti, R Tita, R Artuso, I Longo, ... European journal of human genetics 18 (10), 1133-1140, 2010 | 39 | 2010 |
| Large germline deletions and duplication in isolated cerebral cavernous malformation patients U Felbor, S Gaetzner, DJ Verlaan, R Vijzelaar, GA Rouleau, AM Siegel Neurogenetics 8, 149-153, 2007 | 38 | 2007 |
| Steroid sulfatase deficiency and androgen activation before and after puberty J Idkowiak, AE Taylor, S Subtil, DM O'neil, R Vijzelaar, RP Dias, R Amin, ... The Journal of Clinical Endocrinology & Metabolism 101 (6), 2545-2553, 2016 | 35 | 2016 |
| Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction V Zvereff, S Yao, J Ramsey, FM Mikhail, R Vijzelaar, L Messiaen Genetic testing and molecular biomarkers 14 (4), 505-510, 2010 | 34 | 2010 |
| High frequency of large genomic deletions in the PCCA gene causing propionic acidemia LR Desviat, R Sanchez-Alcudia, B Pérez, C Pérez-Cerdá, R Navarrete, ... Molecular genetics and metabolism 96 (4), 171-176, 2009 | 31 | 2009 |
| Deletions within COL11A1in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA) R Vijzelaar, S Waller, A Errami, A Donaldson, T Lourenco, M Rodrigues, ... BMC medical genetics 14, 1-6, 2013 | 27 | 2013 |
| Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR E Spencer, J Davis, F Mikhail, C Fu, R Vijzelaar, EH Zackai, H Feret, ... American Journal of Medical Genetics Part A 155 (6), 1352-1359, 2011 | 24 | 2011 |
Stuart A. Scott, PhD, FACMGStanford UniversityBestätigte E-Mail-Adresse bei stanford.edu
