SHANK1 Deletions in Males with Autism Spectrum Disorder (Q24313471)

GOA release 2020-03-11

vocalization behavior

1 reference

GOA release 2020-03-11

author

Mark Lathrop

19

0 references

Lonnie Zwaigenbaum

24

Lonnie Zwaigenbaum

0 references

Aparna Prasad

Aparna Prasad

4

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Dalila Pinto

Dalila Pinto

5

0 references

Thomas Bourgeron

Thomas Bourgeron

29

0 references

Éric Fombonne

Eric Fombonne

23

0 references

Marion Leboyer

Marion Leboyer

16

0 references

Richard Delorme

Richard Delorme

14

0 references

Christopher Gillberg

18

Christopher Gillberg

0 references

Peter Szatmari

30

Peter Szatmari

0 references

Evdokia Anagnostou

21

Evdokia Anagnostou

0 references

Stephen W. Scherer

31

Stephen W Scherer

0 references

Maria Råstam

17

Maria Rastam

0 references

Wendy Roberts

26

Wendy Roberts

0 references

Jacques L. Michaud

11

Jacques L Michaud

0 references

Claire S Leblond

3

Claire S Leblond

0 references

Rosanna Weksberg

22

Rosanna Weksberg

0 references

Anath C. Lionel

2

Anath C Lionel

0 references

Bridget A. Fernandez

25

Bridget A Fernandez

0 references

Guillaume Huguet

15

Guillaume Huguet

0 references

Gudrun A Rappold

27

Gudrun A Rappold

0 references

Christian Marshall

28

Christian R Marshall

0 references

Irene Drmic

9

Irene E Drmic

0 references

Ralph Roeth

13

Ralph Roeth

0 references

Volker Endris

12

Volker Endris

0 references

author name string

Daisuke Sato

1

0 references

Susan Walker

6

0 references

Irene O'Connor

7

0 references

Carolyn Russell

8

0 references

Fadi F Hamdan

10

0 references

Dimitri J Stavropoulos

American Journal of Human Genetics

20

0 references

language of work or name

English

0 references

publication date

4 May 2012

0 references

published in

0 references

volume

90

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issue

5

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page(s)

879-87

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0 references

0 references

Rare deletions at the neurexin 3 locus 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=3376495

Why are autism spectrum conditions more prevalent in males?

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

High-resolution analysis of parent-of-origin allelic expression in the mouse brain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Structural variation of chromosomes in autism spectrum disorder

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Contribution of SHANK3 mutations to autism spectrum disorder

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

A unified genetic theory for sporadic and inherited autism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Strong association of de novo copy number mutations with autism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Copy-number variations associated with neuropsychiatric conditions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Detection of large-scale variation in the human genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Gamma-protocadherins are targeted to subsets of synapses and intracellular organelles in neurons

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

The Shank family of scaffold proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Integrating common and rare genetic variation in diverse human populations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

A synaptic trek to autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Genetic architecture in autism spectrum disorder

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Risk factors for autism: translating genomic discoveries into diagnostics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

A genome-wide association study of alcohol dependence

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Population analysis of large copy number variants and hotspots of human genetic disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Germ-line DNA copy number variation frequencies in a large North American population

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Brief report: "the autism epidemic". The registered prevalence of autism in a Swedish urban area

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Defining key features of the broad autism phenotype: a comparison across parents of multiple- and single-incidence autism families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Kinesin family member 6 variant Trp719Arg does not associate with angiographically defined coronary artery disease in the Ottawa Heart Genomics Study.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Novel de novo SHANK3 mutation in autistic patients

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

Combining information from multiple sources in the diagnosis of autism spectrum disorders.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376495

10.1016/J.AJHG.2012.03.017

29 November 2018

Identifiers

DOI

1 reference

release_bftsuwdzvvdxnf4fzhmoamest4

1955003

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bftsuwdzvvdxnf4fzhmoamest4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1955003

1 reference

1 reference

1 reference