(Q37010426)

17 August 2017

Intellectual disability is associated with increased runs of homozygosity in simplex autism (English)

1 reference

disability affecting intellectual abilities

17 August 2017

0 references

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

1 reference

Ece D Gamsiz

1

0 references

Stephan J. Sanders

object named as

Stephan J Sanders

5

0 references

Eric M. Morrow

object named as

Eric M Morrow

15

0 references

Daniel Geschwind

10

object named as

Daniel H Geschwind

1 reference

17 August 2017

13

Edwin H Cook

1 reference

17 August 2017

Emma W Viscidi

2

1 reference

17 August 2017

Abbie M Frederick

3

1 reference

17 August 2017

Shailender Nagpal

4

1 reference

17 August 2017

Michael T Murtha

6

1 reference

17 August 2017

Michael Schmidt

7

1 reference

17 August 2017

Simons Simplex Collection Genetics Consortium

8

1 reference

17 August 2017

Elizabeth W Triche

9

1 reference

17 August 2017

Matthew W State

11

1 reference

17 August 2017

Sorin Istrail

12

1 reference

17 August 2017

Bernie Devlin

14

1 reference

17 August 2017

language of work or name

English

0 references

publication date

3 July 2013

1 reference

American Journal of Human Genetics

17 August 2017

1 reference

17 August 2017

93

1 reference

17 August 2017

1

1 reference

17 August 2017

103-109

1 reference

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

De Novo Gene Disruptions in Children on the Autistic Spectrum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Genomic copy number variation in disorders of cognitive development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Epidemiology of Pervasive Developmental Disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Detection of sharing by descent, long-range phasing and haplotype imputation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Genetic mapping in human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Genetics of intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Identifying autism loci and genes by tracing recent shared ancestry

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Genetics of autosomal recessive non-syndromic mental retardation: recent advances.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

PLINK: a tool set for whole-genome association and population-based linkage analyses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710760

10.1016/J.AJHG.2013.06.004

4 September 2018

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

1 reference