(Q42562841)

2 November 2017

Parental expression is overvalued in the interpretation of rare inherited variants (English)

1 reference

2 November 2017

Gregory Costain

1

1 reference

2 November 2017

23 April 2014

1 reference

European Journal of Human Genetics

2 November 2017

1 reference

2 November 2017

23

1 reference

2 November 2017

1

1 reference

2 November 2017

4-7

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.64

2 November 2017

0 references

cites work

Chromosomal microarray versus karyotyping for prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

1q21.1 Microduplication expression in adults

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

A copy number variation morbidity map of developmental delay

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

The clinical context of copy number variation in the human genome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

Phenotype of adults with the 22q11 deletion syndrome: A review

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

Stoppage rules and genetic studies of autism

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

The causality of de novo copy number variants is overestimated

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266746

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24755951

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.64

1 reference

Dimensions Publication ID

2 November 2017

1008568603

0 references

Fatcat ID

release_wew755yhibblbohoahaj267d7y

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wew755yhibblbohoahaj267d7y

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

2 November 2017

PubMed publication ID

24755951

1 reference