European guidelines for constitutional cytogenomic analysis

Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion

(2017) Zandra C. Deans et al.   PRENATAL DIAGNOSIS

Guidelines for genomic array analysis in acquired haematological neoplastic disorders

(2016) Jacqueline Schoumans et al.   GENES CHROMOSOMES & CANCER

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

(2016) Rolph Pfundt et al.   GENETICS IN MEDICINE

Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants

(2016) Thomas Liehr   Molecular Cytogenetics

College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests

(2015) Nazneen Aziz et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Guidelines for diagnostic next-generation sequencing

(2015) Gert Matthijs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Whole-genome array as a first-line cytogenetic test in prenatal diagnosis

(2015) M. I. Srebniak et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

(2014) Olivier Vanakker et al.   European Journal of Medical Genetics

Pathogenic or not? Assessing the clinical relevance of copy number variants

(2013) JY Hehir-Kwa et al.   CLINICAL GENETICS

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

(2013) Mireille Claustres et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

(2013) Sarah T. South et al.   GENETICS IN MEDICINE

Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

(2013) Marjan M. Weiss et al.   HUMAN MUTATION

Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics

(2012) Joris R. Vermeesch et al.   HUMAN MUTATION

Diagnostic interpretation of array data using public databases and internet sources

(2012) Nicole de Leeuw et al.   HUMAN MUTATION

Re: Incidence of discrepant results between QF-PCR and karyotype testing in chorion villus samples: UK experience

(2012) Sue Hamilton et al.   PRENATAL DIAGNOSIS

SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control

(2011) N. de Leeuw et al.   CYTOGENETIC AND GENOME RESEARCH

Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

(2011) James T Mascarello et al.   GENETICS IN MEDICINE

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

(2011) Alistair T Pagnamenta et al.   JOURNAL OF HUMAN GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y

(2008) Tommy Gerdes et al.   PRENATAL DIAGNOSIS