The impact of chromosomal microarray on clinical management: a retrospective analysis (Q50308309)

2 March 2018

title

The impact of chromosomal microarray on clinical management: a retrospective analysis (English)

1 reference

2 March 2018

author name string

Lindsay B Henderson

1

1 reference

2 March 2018

Carolyn D Applegate

2

1 reference

2 March 2018

Elizabeth Wohler

3

1 reference

2 March 2018

Molly B Sheridan

4

1 reference

2 March 2018

Julie Hoover-Fong

5

1 reference

2 March 2018

Denise A S Batista

6

1 reference

2 March 2018

language of work or name

English

0 references

publication date

13 March 2014

1 reference

2 March 2018

published in

Genetics in Medicine

1 reference

2 March 2018

volume

16

1 reference

2 March 2018

issue

9

1 reference

2 March 2018

page(s)

657-664

1 reference

2 March 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.

cites work

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Copy-number variations associated with neuropsychiatric conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Clinical utility of chromosomal microarray analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Chromosomal microarray impacts clinical management.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Chromosomal microarray testing influences medical management

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

The clinical spectrum of complete FBN1 allele deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

CTNS mutations in an American-based population of cystinosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Cysteamine therapy for children with nephropathic cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Wor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

An 8-cM interstitial deletion on 4q21-q22 in DNA from an infant with hepatoblastoma overlaps with a commonly deleted region in adult liver cancers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Perinatal detection of familial adenomatous polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

inferred from DOI database lookup

7 January 2021

based on heuristic

Phenotypic variability of atypical 22q11.2 deletions not including TBX1

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

inferred from DOI database lookup

7 January 2021

based on heuristic

NCCN clinical practice guidelines in oncology. Colorectal cancer screening

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.18

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/GIM.2014.18

1 reference

2 March 2018

Microsoft Academic ID

2078781148

0 references

1 reference

2 March 2018