(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

10

1 reference

17 August 2017

1090-1095

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

PubMed publication ID

23044707

1 reference