Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders (Q35155976)

6 August 2017

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders (English)

1 reference

6 August 2017

autism spectrum disorder

0 references

autism

0 references

high-functioning autism

1 reference

1 reference

10

Eric Boerwinkle

0 references

Donna Muzny

5

Donna Muzny

0 references

Yasunari Sakai

Yasunari Sakai

3

0 references

Huda Zoghbi

Huda Y Zoghbi

12

0 references

Richard A Gibbs

11

Richard A Gibbs

1 reference

6 August 2017

7

Lora Lewis

1 reference

6 August 2017

Christian P Schaaf

1

1 reference

6 August 2017

Aniko Sabo

2

1 reference

6 August 2017

Jacy Crosby

4

1 reference

6 August 2017

Alicia Hawes

6

1 reference

6 August 2017

Humeira Akbar

8

1 reference

6 August 2017

Robin Varghese

9

1 reference

6 August 2017

30 May 2011

1 reference

6 August 2017

Human Molecular Genetics

1 reference

6 August 2017

20

1 reference

6 August 2017

17

1 reference

6 August 2017

3366-3375

1 reference

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

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Evolving role of MeCP2 in Rett syndrome and autism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

The genetics of autism: key issues, recent findings, and clinical implications

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Rate, molecular spectrum, and consequences of human mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Analysis of X chromosome inactivation in autism spectrum disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Strong association of de novo copy number mutations with autism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

SNPdetector: a software tool for sensitive and accurate SNP detection

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Intergenerational transmission of subthreshold autistic traits in the general population

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

No association between allelic variants of HOXA1/HOXB1 and autism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Mutation screening of FOXP2 in individuals diagnosed with autistic disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

FOXP2 is not a major susceptibility gene for autism or specific language impairment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Genetics of austim: complex aetiology for a heterogeneous disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

A forkhead-domain gene is mutated in a severe speech and language disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Epilepsy and the new cytogenetics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

A de novo paradigm for mental retardation.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

CACNA1H mutations in autism spectrum disorders.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

Evaluation of FOXP2 as an autism susceptibility gene

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153303

27 September 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR243

21 January 2018

Identifiers

DOI

10.1093/HMG/DDR243

1 reference

6 August 2017

1 reference

6 August 2017

1 reference