The causality of de novo copy number variants is overestimated (Q42944846)

11 November 2017

The causality of de novo copy number variants is overestimated (English)

1 reference

11 November 2017

1

Joris R Vermeesch

1 reference

11 November 2017

Irina Balikova

2

1 reference

11 November 2017

Connie Schrander-Stumpel

series ordinal

3

1 reference

11 November 2017

Jean-Pierre Fryns

series ordinal

4

1 reference

11 November 2017

Koenraad Devriendt

series ordinal

5

1 reference

11 November 2017

language of work or name

1 reference

18 May 2011

1 reference

European Journal of Human Genetics

11 November 2017

1 reference

11 November 2017

19

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11 November 2017

11

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11 November 2017

1112-1113

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.83

11 November 2017

0 references

cites work

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

1 reference

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Characterising and predicting haploinsufficiency in the human genome.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

De novo rates and selection of large copy number variation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Accurate distinction of pathogenic from benign CNVs in mental retardation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Strong association of de novo copy number mutations with sporadic schizophrenia

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Guidelines for molecular karyotyping in constitutional genetic diagnosis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Ambra1 regulates autophagy and development of the nervous system

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Strong association of de novo copy number mutations with autism

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

A de novo paradigm for mental retardation.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198146

Epigenome effort makes its mark

16 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.83

Frequency of new copy number variation in humans

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21587321

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Human genome: Genomes by the thousand

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21587321

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21587321

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.83

1 reference

Dimensions Publication ID

11 November 2017

0 references

1 reference

11 November 2017

1 reference