European guidelines for constitutional cytogenomic analysis (Q57054917)

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25 April 2020

2 references

23 July 2020

19 November 2020

European guidelines for constitutional cytogenomic analysis (English)

1 reference

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25 April 2020

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23 July 2020

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19 November 2020

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25 April 2020

author name string

Nicole de Leeuw

2

1 reference

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25 April 2020

Kathy Mann

3

1 reference

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25 April 2020

Heleen Schuring-Blom

4

1 reference

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25 April 2020

Sian Morgan

5

1 reference

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25 April 2020

Daniela Giardino

6

1 reference

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25 April 2020

Katrina Rack

7

1 reference

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25 April 2020

Ros Hastings

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1 reference

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25 April 2020

language of work or name

English

0 references

publication date

1 October 2018

1 reference

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European Journal of Human Genetics

25 April 2020

1 January 2019

2 references

23 July 2020

19 November 2020

3 references

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25 April 2020

23 July 2020

19 November 2020

27

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25 April 2020

issue

1

1 reference

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page(s)

1-16

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Creative Commons Attribution

25 April 2020

copyright license

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19 November 2020

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Guidelines for genomic array analysis in acquired haematological neoplastic disorders

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated chorionic villi: implications for QF-PCR aneuploidy testing

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

European collaborative research on mosaicism in CVS (EUCROMIC)--fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

Cytogenetic analysis of chorionic villi for prenatal diagnosis: an ACC collaborative study of U.K. data. Association of Clinical Cytogeneticists Working Party on Chorionic Villi in Prenatal Diagnosis

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

Phenotypes and genotypes of the chromosomal instability syndromes

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

Quality control in FISH as part of a laboratory's quality management system

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

In vivo somatic microsatellite mutations identified in non-malignant human tissue

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

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7 January 2021

Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection).

1 reference

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7 January 2021

Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

Diagnostic interpretation of array data using public databases and internet sources

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

Guidelines for diagnostic next-generation sequencing

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41431-018-0244-X

7 January 2021

Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/30275486

12 December 2020

inferred from PubMed ID database lookup

Revised guidelines for the diagnosis of mosaicism in amniocytes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/30275486

12 December 2020

inferred from PubMed ID database lookup

Completely discrepant results between prenatal QF-PCR rapid aneuploidy testing and cultured cell karyotyping obtained from CVS: lessons from UK audit and re-audit of 22,221 cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/30275486

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/S41431-018-0244-X

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30275486 AND SRC:MED&resulttype=core&format=json

25 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30275486 AND SRC:MED&resulttype=core&format=json

25 April 2020

PubMed publication ID

30275486

1 reference