(Q28752220)

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

scientific article (publication date: 14 May 2010)

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Europe PubMed Central

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

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congenital disorder

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Evan E. Eichler

9

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Christa Lese Martin

31

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Christa Lese Martin

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Jan M Friedman

13

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Carla Rosenberg

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Carla Rosenberg

22

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Stephen W. Scherer

23

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Stephen W Scherer

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14

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Ada Hamosh

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Leslie G Biesecker

4

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Leslie G Biesecker

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Deanna M. Church

7

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Deanna M Church

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12

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Lars Feuk

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Joris R Vermeesch

28

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Joris R Vermeesch

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ORCID Public Data File 2021

William A. Faucett

11

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W Andrew Faucett

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19

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Robert M Kuhn

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David T. Miller

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David T Miller

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David H. Ledbetter

32

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David H Ledbetter

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Erik C Thorland

27

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Erik C Thorland

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Margaret P Adam

2

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Swaroop Aradhya

3

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Arthur R Brothman

5

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Nigel P Carter

6

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John A Crolla

8

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Charles J Epstein

10

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Laird Jackson

15

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Erin B Kaminsky

16

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Klaas Kok

17

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Ian D Krantz

18

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Charles Lee

20

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James M Ostell

21

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Nancy B Spinner

24

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Dimitri J Stavropoulos

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James H Tepperberg

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Darrel J Waggoner

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Michael S Watson

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publication date

14 May 2010

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American Journal of Human Genetics

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86

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5

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749-64

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Association between microdeletion and microduplication at 16p11.2 and autism

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16 March 2017

Global variation in copy number in the human genome

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

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BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH)

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3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

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16 March 2017

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

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Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

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Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

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DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation

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Structural variants: changing the landscape of chromosomes and design of disease studies

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3 June 2018

Diagnostic genome profiling in mental retardation

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Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals

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3 June 2018

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

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3 June 2018

Molecular karyotyping using an SNP array for genomewide genotyping.

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3 June 2018

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

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3 June 2018

A cytogenetic survey of 449 patients in a Japanese institution for the mentally retarded.

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3 June 2018

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

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3 June 2018

Mental retardation associated with "balanced" chromosome rearrangements

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3 June 2018

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

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3 June 2018

A chromosome survey of a hospital for the mentally subnormal

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3 June 2018

A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities

1 reference

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3 June 2018

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.

1 reference

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27 November 2018

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.

1 reference

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27 November 2018

Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1).

1 reference

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27 November 2018

aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies

1 reference

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27 November 2018

Array comparative genomic hybridization in global developmental delay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Use of array-based technology in the practice of medical genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Optimal design of oligonucleotide microarrays for measurement of DNA copy-number

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2869000

27 November 2018

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

1 reference

https://pubmed.ncbi.nlm.nih.gov/20466091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reply to Hochstenbach et al. 'Molecular karyotyping'

1 reference

https://pubmed.ncbi.nlm.nih.gov/20466091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20466091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microarray analysis for constitutional cytogenetic abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/20466091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetic survey of a hospital for the mentally retarded

1 reference

https://pubmed.ncbi.nlm.nih.gov/20466091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

1 reference

https://pubmed.ncbi.nlm.nih.gov/20466091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical utility of enhanced subtelomeric coverage in array CGH

1 reference

https://pubmed.ncbi.nlm.nih.gov/20466091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20466091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20466091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable phenotype and associations in chromosome 22q11.2 microdeletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/20466091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20466091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic utility of array-based comparative genomic hybridization in a clinical setting

1 reference

https://pubmed.ncbi.nlm.nih.gov/20466091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.04.006

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

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