Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies (Q28752220)

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scientific article (publication date: 14 May 2010)

Language	Label	Description	Also known as
English	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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scholarly article

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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

object named as

Christa Lese Martin

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object named as

Jan M Friedman

13

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Carla Rosenberg

object named as

Carla Rosenberg

22

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Stephen W. Scherer

23

object named as

Stephen W Scherer

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14

object named as

Ada Hamosh

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Leslie G Biesecker

4

object named as

Leslie G Biesecker

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Deanna M. Church

7

object named as

Deanna M Church

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12

object named as

Lars Feuk

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Joris R Vermeesch

28

object named as

Joris R Vermeesch

1 reference

ORCID Public Data File 2021

William A. Faucett

11

object named as

W Andrew Faucett

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19

object named as

Robert M Kuhn

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David T. Miller

1

object named as

David T Miller

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David H. Ledbetter

32

object named as

David H Ledbetter

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Erik C Thorland

27

object named as

Erik C Thorland

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author name string

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

25

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James H Tepperberg

26

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Darrel J Waggoner

29

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Michael S Watson

30

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language of work or name

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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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749-64

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5

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Origins and functional impact of copy number variation in the human genome

1 reference

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

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Large recurrent microdeletions associated with schizophrenia

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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Structural variation of chromosomes in autism spectrum disorder

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

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16 March 2017

The Epidemiology of Autism Spectrum Disorders *

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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

1 reference

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16 March 2017

Global variation in copy number in the human genome

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16 March 2017

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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16 March 2017

Structural variation in the human genome

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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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Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding

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Integrated detection and population-genetic analysis of SNPs and copy number variation

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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

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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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Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

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Population analysis of large copy number variants and hotspots of human genetic disease

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

1 reference

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3 June 2018

Global developmental delay and mental retardation or intellectual disability: conceptualization, evaluation, and etiology

1 reference

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3 June 2018

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

1 reference

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Systematic assessment of copy number variant detection via genome-wide SNP genotyping

1 reference

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Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

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The fine-scale and complex architecture of human copy-number variation

1 reference

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

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Recurrent 16p11.2 microdeletions in autism

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Committee Report: advancing the current recommended panel of conditions for newborn screening

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The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

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Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

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The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

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Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

1 reference

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Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

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Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

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Guidelines for molecular karyotyping in constitutional genetic diagnosis

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Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

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Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

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

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Mental retardation associated with "balanced" chromosome rearrangements

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

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27 November 2018

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27 November 2018

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

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27 November 2018

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

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27 November 2018

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

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27 November 2018

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

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27 November 2018

Array comparative genomic hybridization in global developmental delay.

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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.

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27 November 2018

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

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27 November 2018

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

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27 November 2018

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

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27 November 2018

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

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27 November 2018

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

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27 November 2018

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

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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.

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27 November 2018

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

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27 November 2018

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

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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

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

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