https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=30275486&retmode=xml&tool=Litmetric&email=readroberts32@gmail.com&api_key=61f08fa0b96a73de8c900d749fcb997acc09 302754862019041120231005
1476-54382712019JanEuropean journal of human genetics : EJHGEur J Hum GenetEuropean guidelines for constitutional cytogenomic analysis.1161-1610.1038/s41431-018-0244-xWith advancing technology and the consequent shift towards an increasing application of molecular genetic techniques (e.g., microarrays, next-generation sequencing) with the potential for higher resolution in specific contexts, as well as the application of combined testing strategies for the diagnosis of chromosomal disorders, it is crucial that cytogenetic/cytogenomic services keep up to date with technology and have documents that provide guidance in this constantly evolving scenario. These new guidelines therefore aim to provide an updated, practical and easily available document that will enable genetic laboratories to operate within acceptable standards and to maintain a quality service.SilvaMarisaM0000-0003-3575-1261Departamento de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal.de LeeuwNicoleNDepartment of Human Genetics, Nijmegen Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.MannKathyKGenetics Department, Viapath Analytics, Guy's Hospital, London, SE1 9RT, UK.Schuring-BlomHeleenHDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.MorganSianSAll Wales Genetics Laboratory, Institute of Medical Genetics, University Hospital of Wales, Cardiff, Wales, UK.GiardinoDanielaDLab. Citogenetica Medica, Istituto Auxologico Italiano, Milano, Italy.RackKatrinaKCEQAS/GenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, OX3 9DU, UK.HastingsRosRCEQAS/GenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, OX3 9DU, UK. ros.hastings@ouh.nhs.uk.engJournal ArticleReview20181001
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