(Q27326701)

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A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

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Europe PubMed Central

PubMed publication ID

25 June 2017

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? (English)

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Europe PubMed Central

PubMed publication ID

25 June 2017

genome-wide association study

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based on heuristic

inferred from title

phenotypic heterogeneity

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based on heuristic

inferred from title

Daniel Geschwind

11

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Christa Lese Martin

19

object named as

Christa Lese Martin

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Europe PubMed Central

PubMed publication ID

25 June 2017

Daniel Moreno-De-Luca

8

object named as

Daniel Moreno-De-Luca

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Stephan J. Sanders

object named as

Stephan J Sanders

3

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object named as

Timothy W Yu

9

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object named as

Eric M Morrow

16

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James S. Sutcliffe

object named as

James S Sutcliffe

18

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object named as

Eric Fombonne

10

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21

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Catherine Lord

1 reference

Europe PubMed Central

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25 June 2017

23

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Edwin H Cook

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25 June 2017

2

object named as

Lambertus Klei

1 reference

Europe PubMed Central

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25 June 2017

Daniel Geschwind

11

object named as

Daniel Geschwind

1 reference

Europe PubMed Central

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25 June 2017

Christopher A. Walsh

17

object named as

Christopher A Walsh

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25 June 2017

David H. Ledbetter

13

object named as

David H Ledbetter

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25 June 2017

author name string

Pauline Chaste

1

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Europe PubMed Central

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25 June 2017

Vanessa Hus

4

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25 June 2017

Michael T Murtha

5

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Europe PubMed Central

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25 June 2017

Jennifer K Lowe

6

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Europe PubMed Central

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25 June 2017

A Jeremy Willsey

7

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Europe PubMed Central

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25 June 2017

Daniel Moreno-De-Luca

8

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Europe PubMed Central

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25 June 2017

Dorothy E Grice

12

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Europe PubMed Central

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25 June 2017

Shrikant M Mane

14

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25 June 2017

Donna M Martin

15

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25 June 2017

Arthur L Beaudet

20

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Europe PubMed Central

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25 June 2017

Matthew W State

22

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25 June 2017

Bernie Devlin

24

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25 June 2017

language of work or name

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publication date

30 September 2014

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25 June 2017

Biological Psychiatry

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Europe PubMed Central

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25 June 2017

77

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Europe PubMed Central

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25 June 2017

9

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25 June 2017

775-784

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25 June 2017

describes a project that uses

genome-wide association study

1 reference

based on heuristic

inferred from title

Biological insights from 108 schizophrenia-associated genetic loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

NINDS epilepsy and autism spectrum disorders workshop report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

Using ancestry matching to combine family-based and unrelated samples for genome-wide association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

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=4379124

21 March 2017

Common variants conferring risk of schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

Genome-wide linkage analyses of quantitative and categorical autism subphenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

FOXG1 is responsible for the congenital variant of Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

Human F-box protein hCdc4 targets cyclin E for proteolysis and is mutated in a breast cancer cell line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

Genome-wide association study identifies five new schizophrenia loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

Common polygenic variation contributes to risk of 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=4379124

21 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

Individual common variants exert weak effects on the risk for autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

Variants in several genomic regions associated with asperger disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

21 March 2017

A framework for the interpretation of de novo mutation in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

7 April 2017

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, 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=4379124

7 April 2017

CNVs conferring risk of autism or schizophrenia affect cognition in controls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

7 April 2017

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=4379124

7 April 2017

GCTA: a tool for genome-wide complex trait analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

7 April 2017

TopBP1 activates the ATR-ATRIP complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

7 April 2017

Most genetic risk for autism resides with common variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

A polygenic burden of rare disruptive mutations in schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Phosphorylation-triggered CUEDC2 degradation promotes UV-induced G1 arrest through APC/C(Cdh1) regulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

ZNF365 promotes stability of fragile sites and telomeres.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Examining and interpreting the female protective effect against autistic behavior

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Standardizing ADOS domain scores: separating severity of social affect and restricted and repetitive behaviors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Common genetic variants, acting additively, are a major source of risk for autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Subcategories of restricted and repetitive behaviors in children 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=4379124

28 September 2017

Brain enlargement is associated with regression in preschool-age boys 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=4379124

28 September 2017

A multisite study of the clinical diagnosis of different autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Identification of genetic loci underlying the phenotypic constructs of autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Do common variants play a role in risk for autism? Evidence and theoretical musings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

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=4379124

28 September 2017

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Comparing autism, PDD-NOS, and other developmental disabilities on parent-reported behavior problems: little evidence for ASD subtype validity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Genetic variance for autism screening items in an unselected sample of toddler-age twins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

SCAN: SNP and copy number annotation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

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=4379124

28 September 2017

The structure of the Autism Diagnostic Interview-Revised: diagnostic and phenotypic implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Standardizing ADOS scores for a measure of severity 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=4379124

28 September 2017

FBXW7 targets mTOR for degradation and cooperates with PTEN in tumor suppression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

The conserved Wobble uridine tRNA thiolase Ctu1-Ctu2 is required to maintain genome integrity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

A novel DISC1-interacting partner DISC1-Binding Zinc-finger protein: implication in the modulation of DISC1-dependent neurite outgrowth.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Syntaxin 6 and Vti1b form a novel SNARE complex, which is up-regulated in activated macrophages to facilitate exocytosis of tumor necrosis Factor-alpha.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Specifying PDD-NOS: a comparison of PDD-NOS, Asperger syndrome, and autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

A transmission/disequilibrium test that allows for genotyping errors in the analysis of single-nucleotide polymorphism data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

28 September 2017

ZNF365 promotes stalled replication forks recovery to maintain genome stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

2 June 2018

Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees 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=4379124

2 June 2018

Implementing a unified approach to family-based tests of association.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

2 June 2018

Sex differences in autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

2 June 2018

Genetically meaningful phenotypic subgroups 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=4379124

27 November 2018

Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

27 November 2018

Testing the construct validity of proposed criteria for DSM-5 autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

27 November 2018

Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

27 November 2018

The F-box protein Fbw7 is required for cerebellar development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

27 November 2018

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

27 November 2018

Fbw7 controls neural stem cell differentiation and progenitor apoptosis via Notch and c-Jun.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

27 November 2018

A twin study of autism symptoms in Sweden

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

27 November 2018

Relationship between symptom domains in autism spectrum disorders: a population based twin study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

27 November 2018

Exploratory and confirmatory factor analysis of the autism diagnostic interview-revised

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

27 November 2018

Using the autism diagnostic interview--revised to increase phenotypic homogeneity in genetic studies of autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

27 November 2018

Linkage analysis for autism in a subset families with obsessive-compulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

27 November 2018

Genomic screen and follow-up analysis for autistic disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4379124

27 November 2018

Identifiers

10.1016/J.BIOPSYCH.2014.09.017

1 reference

Europe PubMed Central

PubMed publication ID

25 June 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 June 2017

ResearchGate publication ID

0 references

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