Search Results - "HASTINGS, Rosalind J"
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Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories
Published in European journal of human genetics : EJHG (01-04-2021)“…Participation of clinical genetic laboratories in External Quality Assessment schemes (EQAs) is a powerful method to ascertain if any improvement or additional…”
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Cytogenetic Nomenclature and Reporting
Published in Methods in molecular biology (Clifton, N.J.) (01-01-2017)“…A standardized nomenclature is critical for the accurate and consistent description of genomic changes as identified by karyotyping, fluorescence in situ…”
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HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions
Published in Leukemia (01-11-2021)“…Gene fusions have been discussed in the scientific literature since they were first detected in cancer cells in the early 1980s. There is currently no…”
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Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics
Published in Human mutation (01-06-2012)“…Whole‐genome analysis using genome‐wide arrays, also called “genomic arrays,” “microarrays,” or “arrays,” has become the first‐tier diagnostic test for…”
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Genome-wide arrays in routine diagnostics of hematological malignancies
Published in Human mutation (01-06-2012)“…Over the last three decades, cytogenetic analysis of malignancies has become an integral part of disease evaluation and prediction of prognosis or…”
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Guidelines for cytogenetic investigations in tumours
Published in European journal of human genetics : EJHG (01-01-2016)Get full text
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Reply to Sajantila and Budowle
Published in European journal of human genetics : EJHG (01-03-2016)Get full text
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An Internet-based external quality assessment in cytogenetics that audits a laboratory's analytical and interpretative performance
Published in European journal of human genetics : EJHG (01-10-2008)“…A novel approach to external quality assessment (EQA) using the Internet mimics the diagnostic situation so that multiple tests can be requested and EQA cases…”
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Aneuploidy screening in direct chorionic villus samples by fluorescence in situ hybridisation: the use of commercial probes in a clinical setting
Published in BJOG : an international journal of obstetrics and gynaecology (01-02-2001)“…The results of screening for the common aneuploidies involving chromosomes 13, 18, 21, X and Y by florescent in‐situ hybridisation (FISH) in direct…”
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Aneuploidy screening in direct chorionic villus samples by fluorescence in situ hybridisation : the use of commercial probes in a clinical setting
Published in BJOG : an international journal of obstetrics and gynaecology (01-02-2001)“…The results of screening for the common aneuploidies involving chromosomes 13, 18, 21, X and Y by florescent in-situ hybridisation (FISH) in direct…”
Get full text
Journal Article