(Q89144601)

English

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

scientific article published on 18 June 2018

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Europe PubMed Central

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31 March 2020

1 reference

19 November 2020

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29915380%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

neurodevelopmental disorder

1 reference

based on heuristic

inferred from title

intellectual disability

1 reference

19 November 2020

genetic testing

1 reference

19 November 2020

1 reference

based on heuristic

inferred from title

David T. Miller

12

object named as

David T Miller

1 reference

Europe PubMed Central

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31 March 2020

author name string

Darrel Waggoner

1

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31 March 2020

Karen E Wain

2

1 reference

Europe PubMed Central

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31 March 2020

Adrian M Dubuc

3

1 reference

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31 March 2020

Laura Conlin

4

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31 March 2020

Scott E Hickey

5

1 reference

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31 March 2020

Allen N Lamb

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29915380%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Christa Lese Martin

7

1 reference

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31 March 2020

Cynthia C Morton

8

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31 March 2020

Kristen Rasmussen

9

1 reference

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31 March 2020

Jane L Schuette

10

1 reference

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31 March 2020

Stuart Schwartz

11

1 reference

Europe PubMed Central

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31 March 2020

ACMG Professional Practice and Guidelines Committee

13

1 reference

Europe PubMed Central

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31 March 2020

publication date

18 June 2018

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31 March 2020

1 October 2018

1 reference

19 November 2020

Genetics in Medicine

2 references

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29915380%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

19 November 2020

20

1 reference

Europe PubMed Central

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31 March 2020

10

1 reference

Europe PubMed Central

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31 March 2020

1105-1113

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29915380%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

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%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

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Evidence report: Genetic and metabolic testing on children 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://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

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Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation.

1 reference

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7 January 2021

based on heuristic

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How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

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Evidence of reproductive stoppage in families with autism spectrum disorder: a large, population-based cohort study

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

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inferred from DOI database lookup

Evidence for ASD recurrence rates and reproductive stoppage from large UK ASD research family databases

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

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inferred from DOI database lookup

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

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inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Runs of homozygosity in European populations

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Uniparental disomy: can SNP array data be used for diagnosis?

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

UPD detection using homozygosity profiling with a SNP genotyping microarray

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0040-6

7 January 2021

based on heuristic

inferred from DOI database lookup

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Consensus methods: characteristics and guidelines for use

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/S41436-018-0040-6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29915380%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29915380%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29915380%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

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