Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts (Q30572502)

17 August 2017

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts (English)

1 reference

17 August 2017

0 references

D Moreno-De-Luca

1

1 reference

17 August 2017

S J Sanders

2

1 reference

17 August 2017

A J Willsey

3

1 reference

17 August 2017

J G Mulle

4

1 reference

17 August 2017

J K Lowe

5

1 reference

17 August 2017

D H Geschwind

6

1 reference

17 August 2017

M W State

7

1 reference

17 August 2017

C L Martin

8

1 reference

17 August 2017

D H Ledbetter

9

1 reference

17 August 2017

language of work or name

English

0 references

publication date

9 October 2012

1 reference

17 August 2017

1 reference

17 August 2017

18

1 reference

17 August 2017

1090-1095

1 reference

17 August 2017

10

1 reference

The conundrums of understanding genetic risks for autism spectrum disorders

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

A copy number variation morbidity map of developmental delay

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Copy number variants: a new molecular frontier in clinical psychiatry

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

New copy number variations in schizophrenia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

De novo rates and selection of large copy number variation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Functional impact of global rare copy number variation in autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Duplication hotspots, rare genomic disorders, and common disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Rare chromosomal deletions and duplications increase risk of schizophrenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Advances in autism genetics: on the threshold of a new neurobiology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Association between microdeletion and microduplication at 16p11.2 and autism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Recurrent 16p11.2 microdeletions in autism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Strong association of de novo copy number mutations with autism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Autism spectrum disorders: developmental disconnection syndromes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3720840

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FMP.2012.138

Genetics of autism spectrum disorders

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23044707

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

First in vivo evidence of an NMDA receptor deficit in medication-free schizophrenic patients

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FMP.2012.138

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/MP.2012.138

1 reference

17 August 2017

1 reference

17 August 2017

1 reference