Rosalind J Hastings

Radboud University Medical Centre (Radboudumc), Nijmegen, Provincie Gelderland, Netherlands

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Publications (3)12.27 Total impact

  • A Simons, L G Shaffer, R J Hastings
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    ABSTRACT: The latest edition of the International System for Human Cytogenetic Nomenclature, ISCN 2013, has recently been published following a thorough revision of the 2009 issue and the incorporation of suggestions from the community by the current standing committee. This review will highlight the multiple nomenclature changes in the respective chapters of the 2013 version compared to the previous version of the ISCN published in 2009. These highlights are meant as a guide for the cytogeneticist to assist in the transition in the use of this updated nomenclature for describing cytogenetic and molecular cytogenetic findings in both clinical and research reports. © 2013 S. Karger AG, Basel.
    Cytogenetic and Genome Research 06/2013; · 1.84 Impact Factor
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    ABSTRACT: Whole-genome analysis using genome-wide arrays, also called "genomic arrays," "microarrays," or "arrays," has become the first-tier diagnostic test for patients with developmental abnormalities and/or intellectual disabilities. In addition to constitutional anomalies, genomic arrays are also used to diagnose acquired disorders. Despite the rapid implementation of these technologies in diagnostic laboratories, external quality control schemes (such as CEQA, EMQN, UK NEQAS, and the USA QA scheme CAP) and interlaboratory comparisons show that there are huge differences in quality, interpretation, and reporting among laboratories. We offer guidance to laboratories to help assure the quality of array experiments and to standardize minimum detection resolution, and we also provide guidelines to standardize interpretation and reporting.
    Human Mutation 03/2012; 33(6):906-15. · 5.21 Impact Factor
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    ABSTRACT: Over the last three decades, cytogenetic analysis of malignancies has become an integral part of disease evaluation and prediction of prognosis or responsiveness to therapy. In most diagnostic laboratories, conventional karyotyping, in conjunction with targeted fluorescence in situ hybridization analysis, is routinely performed to detect recurrent aberrations with prognostic implications. However, the genetic complexity of cancer cells requires a sensitive genome-wide analysis, enabling the detection of small genomic changes in a mixed cell population, as well as of regions of homozygosity. The advent of comprehensive high-resolution genomic tools, such as molecular karyotyping using comparative genomic hybridization or single-nucleotide polymorphism microarrays, has overcome many of the limitations of traditional cytogenetic techniques and has been used to study complex genomic lesions in, for example, leukemia. The clinical impact of the genomic copy-number and copy-neutral alterations identified by microarray technologies is growing rapidly and genome-wide array analysis is evolving into a diagnostic tool, to better identify high-risk patients and predict patients' outcomes from their genomic profiles. Here, we review the added clinical value of an array-based genome-wide screen in leukemia, and discuss the technical challenges and an interpretation workflow in applying arrays in the acquired cytogenetic diagnostic setting.
    Human Mutation 02/2012; 33(6):941-8. · 5.21 Impact Factor

Publication Stats

31 Citations
12.27 Total Impact Points

Institutions

  • 2013
    • Radboud University Medical Centre (Radboudumc)
      • Department of Human Genetics
      Nijmegen, Provincie Gelderland, Netherlands
  • 2012
    • KU Leuven
      • Department of Human Genetics
      Leuven, VLG, Belgium
    • Oxford University Hospitals NHS Trust
      Oxford, England, United Kingdom