Diagnostic interpretation of array data using public databases and internet sources (Q30987957)

19 August 2017

Diagnostic interpretation of array data using public databases and internet sources (English)

1 reference

19 August 2017

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9

Christa Lese Martin

1 reference

19 August 2017

Steven Van Vooren

13

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Rolf H Sijmons

object named as

Rolf Sijmons

14

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Morris A Swertz

15

object named as

Morris Swertz

1 reference

19 August 2017

6

Helen V Firth

1 reference

19 August 2017

7

Robert M Kuhn

1 reference

19 August 2017

8

David H Ledbetter

1 reference

19 August 2017

1

Nicole de Leeuw

1 reference

19 August 2017

3

Jayne Y Hehir-Kwa

1 reference

19 August 2017

Trijnie Dijkhuizen

2

1 reference

19 August 2017

Nigel P Carter

4

1 reference

19 August 2017

Lars Feuk

5

1 reference

19 August 2017

Conny M A van Ravenswaaij-Arts

10

1 reference

19 August 2017

Steven W Scherer

11

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19 August 2017

Soheil Shams

12

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19 August 2017

Ros Hastings

16

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19 August 2017

1 June 2012

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19 August 2017

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19 August 2017

33

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19 August 2017

6

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19 August 2017

930-940

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Genome-wide arrays in routine diagnostics of hematological malignancies

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

Clinical laboratory implementation of cytogenomic microarrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

Characterising and predicting haploinsufficiency in the human genome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

The UCSC Genome Browser database: update 2011

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

Public data archives for genomic structural variation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

Accurate distinction of pathogenic from benign CNVs in mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

The human phenotype ontology.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

The clinical context of copy number variation in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

Personalized copy number and segmental duplication maps using next-generation sequencing.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

Guidelines for molecular karyotyping in constitutional genetic diagnosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

Challenges and standards in integrating surveys of structural variation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

Structural variation in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

Detection of large-scale variation in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, pound sterling 1595

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

The London Dysmorphology Database

21 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5027376

21 June 2018

https://api.crossref.org/works/10.1002%2FHUMU.22049

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22049

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22049

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22049

The MECP2 duplication syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22049

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22049

Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22049

21 January 2018

Identifiers

DOI

10.1002/HUMU.22049

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

26285306

1 reference