(Q35857541)

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Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

scientific article published on 7 July 2015

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Europe PubMed Central

PMC publication ID

10 August 2017

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants (English)

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

autism spectrum disorder

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Margaret A. Pericak-Vance

16

object named as

Margaret A Pericak-Vance

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Jonathan L Haines

13

object named as

Jonathan L Haines

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Europe PubMed Central

10 August 2017

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author name string

Anthony J Griswold

1

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Europe PubMed Central

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10 August 2017

Nicole D Dueker

2

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Europe PubMed Central

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10 August 2017

Derek Van Booven

3

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10 August 2017

Joseph A Rantus

4

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Europe PubMed Central

PMC publication ID

10 August 2017

James M Jaworski

5

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Europe PubMed Central

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10 August 2017

Susan H Slifer

6

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Europe PubMed Central

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10 August 2017

Michael A Schmidt

7

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Europe PubMed Central

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10 August 2017

William Hulme

8

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Europe PubMed Central

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10 August 2017

Ioanna Konidari

9

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Europe PubMed Central

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10 August 2017

Patrice L Whitehead

10

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Europe PubMed Central

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10 August 2017

Michael L Cuccaro

11

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Europe PubMed Central

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10 August 2017

Eden R Martin

12

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Europe PubMed Central

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10 August 2017

John R Gilbert

14

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10 August 2017

John P Hussman

15

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Europe PubMed Central

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10 August 2017

publication date

7 July 2015

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Europe PubMed Central

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10 August 2017

Molecular Autism

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Europe PubMed Central

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10 August 2017

6

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Europe PubMed Central

PMC publication ID

10 August 2017

43

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Europe PubMed Central

PMC publication ID

10 August 2017

copyright license

Creative Commons Attribution 4.0 International

7 July 2015

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April 2022 Public Data File from Crossref

copyright status

0 references

The contribution of de novo coding mutations to autism spectrum disorder

1 reference

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Synaptic, transcriptional and chromatin genes disrupted in autism

1 reference

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A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder

1 reference

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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

1 reference

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Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010

1 reference

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A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl.

1 reference

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Searching for missing heritability: designing rare variant association studies

1 reference

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11 July 2018

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

1 reference

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11 July 2018

Fine-scale patterns of population stratification confound rare variant association tests

1 reference

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11 July 2018

IL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through RhoA signaling pathway

1 reference

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PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth

1 reference

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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

1 reference

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Empirical power of very rare variants for common traits and disease: results from sanger sequencing 1998 individuals

1 reference

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The schizophrenia-associated Kv11.1-3.1 isoform results in reduced current accumulation during repetitive brief depolarizations.

1 reference

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Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

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Primer3--new capabilities and interfaces

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Optimal tests for rare variant effects in sequencing association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

De Novo Gene Disruptions in Children on the Autistic Spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Patterns and rates of exonic de novo mutations in autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

A systematic survey of loss-of-function variants in human protein-coding genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Mutation of Semaphorin-6A disrupts limbic and cortical connectivity and models neurodevelopmental psychopathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

GRIK4/KA1 protein expression in human brain and correlation with bipolar disorder risk variant status

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Rare-variant association testing for sequencing data with the sequence kernel association test

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

A genome-wide scan for common alleles affecting risk for autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

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A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

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PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

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Sequencing technologies - the next generation

1 reference

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11 July 2018

Genetic overlap between autism, schizophrenia and bipolar disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

A genome-wide linkage and association scan reveals novel loci for autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

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Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Common genetic variants on 5p14.1 associate with autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

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Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

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Semaphorin-6A controls guidance of corticospinal tract axons at multiple choice points

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

A common variant in the 3'UTR of the GRIK4 glutamate receptor gene affects transcript abundance and protects against bipolar disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

The group II metabotropic glutamate receptor 3 (mGluR3, mGlu3, GRM3): expression, function and involvement in schizophrenia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

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Evidence for the involvement of the kainate receptor subunit GluR6 (GRIK2) in mediating behavioral displays related to behavioral symptoms of mania

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

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Disruption of neurexin 1 associated with autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Strong association of de novo copy number mutations with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

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Population structure and eigenanalysis

1 reference

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Study of the relationship between tuberous sclerosis complex and autistic disorder

1 reference

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Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4504419

11 July 2018

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1 reference

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11 July 2018

The allelic architecture of human disease genes: common disease-common variant... or not?

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11 July 2018

The structure of haplotype blocks in the human genome

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11 July 2018

Linkage and association of the glutamate receptor 6 gene with autism

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11 July 2018

On the allelic spectrum of human disease

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11 July 2018

Are rare variants responsible for susceptibility to complex diseases?

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11 July 2018

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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11 July 2018

The Vineland Adaptive Behavior Scales: supplementary norms for individuals with autism.

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11 July 2018

Autism as a strongly genetic disorder: evidence from a British twin study

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11 July 2018

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21 January 2018

Concordance for the syndrome of autism in 40 pairs of afflicted twins

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11 July 2018

Infantile autism: a genetic study of 21 twin pairs

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11 July 2018

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

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24 September 2018

SFARI Gene: an evolving database for the autism research community.

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24 September 2018

Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism.

1 reference

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24 September 2018

Validation of the social communication questionnaire in a population cohort of children with autism spectrum disorders.

1 reference

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24 September 2018

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism

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24 September 2018

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21 January 2018

Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis

1 reference

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12 December 2020

based on heuristic

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Identifiers

10.1186/S13229-015-0034-Z

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

ResearchGate publication ID

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