(Q34002178)

30 July 2017

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE (English)

1 reference

30 July 2017

0 references

9

1 reference

30 July 2017

Stephan J Sanders

3

0 references

James S. Sutcliffe

James S Sutcliffe

14

0 references

Chad Shaw

Chad A Shaw

2

0 references

Edwin H Cook

15

Edwin H Cook

1 reference

30 July 2017

16

Pawel Stankiewicz

1 reference

30 July 2017

Aleksandar Milosavljevic

13

Aleksandar Milosavljevic

1 reference

30 July 2017

Patricia B S Celestino-Soper

1

1 reference

30 July 2017

Jian Li

4

1 reference

30 July 2017

Michael T Murtha

5

1 reference

30 July 2017

A Gulhan Ercan-Sencicek

6

1 reference

30 July 2017

Lea Davis

7

1 reference

30 July 2017

Susanne Thomson

8

1 reference

30 July 2017

A Craig Chinault

10

1 reference

30 July 2017

Zhishuo Ou

11

1 reference

30 July 2017

Jennifer R German

12

1 reference

30 July 2017

Matthew W State

17

1 reference

30 July 2017

Arthur L Beaudet

18

1 reference

30 July 2017

language of work or name

1 reference

24 August 2011

1 reference

30 July 2017

Human Molecular Genetics

1 reference

30 July 2017

20

1 reference

30 July 2017

22

1 reference

30 July 2017

4360-4370

1 reference

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

The Simons Simplex Collection: a resource for identification of autism genetic risk factors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

The ploidy conveyor of mature hepatocytes as a source of genetic variation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

Detection of clinically relevant exonic copy-number changes by array CGH.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

Regulation of costimulation in the era of butyrophilins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

Structural variation of chromosomes in autism spectrum disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

Strong association of de novo copy number mutations with autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

Global variation in copy number in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

APOBEC3A and APOBEC3B are potent inhibitors of LTR-retrotransposon function in human cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196886

Brief report: prevalence of autism spectrum conditions in children aged 5-11 years in Cambridgeshire, UK.

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDR363

Autism -- experiences in a tertiary care hospital

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDR363

Common deletion polymorphisms in the human genome.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDR363

Effects of structural variations of APOBEC3A and APOBEC3B genes in chronic hepatitis B virus infection

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21865298

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Development and validation of a measure of dysmorphology: useful for autism subgroup classification

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21865298

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDR363

1 reference

30 July 2017

1 reference

30 July 2017

1 reference