Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments (Q23936599)

36

0 references

Alexis Brice

32

0 references

Guy A. Rouleau

55

0 references

Diana Zelenika

41

0 references

Pilar Galan

27

0 references

Catalina Betancur

56

Catalina Betancur

0 references

Dalila Pinto

Dalila Pinto

11

0 references

Hugo Peyre

Hugo Peyre

18

0 references

Roberto Toro

Roberto Toro

17

0 references

Thomas Bourgeron

Thomas Bourgeron

60

0 references

Damien Sanlaville

Damien Sanlaville

44

0 references

Marion Leboyer

Marion Leboyer

57

0 references

Richard Delorme

Richard Delorme

59

0 references

Christopher Gillberg

58

Christopher Gillberg

0 references

Peter Szatmari

53

Peter Szatmari

0 references

Stephen W. Scherer

54

Stephen W Scherer

0 references

Julie Gauthier

4

Julie Gauthier

0 references

Maria Råstam

21

Maria Rastam

0 references

Claire S Leblond

1

Claire S Leblond

0 references

Delphine Héron

28

Delphine Heron

0 references

Alexandra Afenjar

30

Alexandra Afenjar

0 references

Anthony Monaco

25

Anthony P Monaco

0 references

Guillaume Huguet

5

Guillaume Huguet

0 references

Nathalie Lemière

13

Nathalie Lemière

0 references

Gudrun A Rappold

23

Gudrun A Rappold

0 references

Elena Maestrini

26

Elena Maestrini

0 references

Françoise Devillard

33

Françoise Devillard

0 references

Brigitte Assouline

34

Brigitte Assouline

0 references

Beatrice Regnault

40

Beatrice Regnault

0 references

Marc Delepine

42

Marc Delepine

0 references

Christelle M Durand

14

Christelle M Durand

0 references

Christel Depienne

9

Christel Depienne

0 references

Agnès Rastetter

31

Agnès Rastetter

0 references

Caroline Nava

2

Caroline Nava

0 references

Serge Lumbroso

6

Serge Lumbroso

0 references

Kevin Mouzat

10

Kevin Mouzat

0 references

Aurélia Jacquette

29

Aurélia Jacquette

0 references

François Rivier

38

François Rivier

0 references

Dominique Bonneau

39

Dominique Bonneau

0 references

Patrick Edery

46

Patrick Edery

0 references

author name string

Anne Polge

3

0 references

Fabienne Giuliano

7

0 references

Coline Stordeur

8

0 references

Jennifer Howe

12

0 references

Jessica Guibert

15

0 references

Elodie Ey

16

0 references

Alexandre Mathieu

19

0 references

Frédérique Amsellem

20

0 references

I Carina Gillberg

22

0 references

Richard Holt

24

0 references

Fanny Laffargue

35

0 references

Jean Chiesa

37

0 references

Caroline Schluth-Bolard

45

0 references

Laurence Perrin

47

0 references

Anne Claude Tabet

48

0 references

Michael J Schmeisser

49

0 references

Tobias M Boeckers

50

0 references

Mary Coleman

51

0 references

Daisuke Sato

Creative Commons Attribution 4.0 International

52

0 references

language of work or name

English

0 references

publication date

September 2014

0 references

published in

PLOS Genetics

0 references

volume

10

0 references

page(s)

e1004580

0 references

issue

9

0 references

copyright license

start time

4 September 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

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Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

19 March 2017

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SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

19 March 2017

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Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

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Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

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Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

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

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

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

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27 September 2017

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The genetic landscapes of autism spectrum disorders

27 September 2017

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Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

27 September 2017

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SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders

27 September 2017

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Progress toward treatments for synaptic defects in autism

27 September 2017

1 reference

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Modeling autism by SHANK gene mutations in mice

27 September 2017

1 reference

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Autism-associated mutations in ProSAP2/Shank3 impair synaptic transmission and neurexin-neuroligin-mediated transsynaptic signaling.

27 September 2017

1 reference

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Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice

27 September 2017

1 reference

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

27 September 2017

1 reference

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Meta-analysis of incidence of rare events.

27 September 2017

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

27 September 2017

1 reference

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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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Inclusion of zero total event trials in meta-analyses maintains analytic consistency and incorporates all available data

27 September 2017

1 reference

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Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154644

Novel de novo SHANK3 mutation in autistic patients

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004580

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004580

Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004580

The Diagnostic Interview for Social and Communication Disorders: background, inter-rater reliability and clinical use.

21 January 2018

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THE USE OF CONFIDENCE OR FIDUCIAL LIMITS ILLUSTRATED IN THE CASE OF THE BINOMIAL

21 January 2018

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Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4154644

2-year-old boy who has been diagnosed with autism

29 November 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004580

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1004580

1 reference

478385

478385

1 reference

1 reference

1 reference