(Q29013643)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

title

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Su Chu

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Thomas V. Fernandez

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Gerald Goh

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Sabata Lund

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Brian J O'Roak

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Brian L. Yaspan

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Dorothy E Grice

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Chad Shaw

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Jay A. Tischfield

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Eric M. Morrow

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Éric Fombonne

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

James S. Sutcliffe

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Kathryn Roeder

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

64

Daniel Geschwind

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

55

Christopher A Walsh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

59

Catherine Lord

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

11

Christopher E Mason

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

45

Rita M Cantor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

57

David H Ledbetter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

author name string

Vanessa Hus

3

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Rui Luo

4

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Daniel Moreno-De-Luca

6

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Murim Choi

14

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Lea Davis

16

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Michael DiCola

19

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Vikram Fielding-Singh

22

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Stephanie Frahm

24

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Rouben Garagaloyan

25

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Sindhuja Kammela

27

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Youeun Song

39

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Qi Wang

40

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Martin Curland

46

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Murat Günel

48

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Michael Sheldon

53

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Bernie Devlin

66

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

A Gulhan Ercan-Sencicek

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Michael T Murtha

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Michael P Moreau

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Abha R Gupta

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Susanne A Thomson

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Kaya Bilguvar

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Patricia B S Celestino-Soper

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Emily L Crawford

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Nicole R Davis Wright

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Rahul M Dhodapkar

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Nicholas M DiLullo

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Daniel O Fishman

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Lambertus Klei

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Jennifer K Lowe

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Anna D McGrew

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Kyle A Meyer

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

William J Moffat

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

John D Murdoch

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Gordon T Ober

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Rebecca S Pottenger

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Melanie J Raubeson

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Timothy W Yu

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Ilana R Yurkiewicz

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Arthur L Beaudet

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Richard P Lifton

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Shrikant M Mane

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Donna M Martin

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Christa Lese Martin

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Andrew I Brooks

61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Edwin H Cook

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Matthew W State

67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

language of work or name

English

0 references

publication date

1 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

volume

70

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

page(s)

863-885

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

issue

5

2 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

3 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

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

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

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

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

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

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

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

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Large, rare chromosomal deletions associated with severe early-onset obesity

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Microduplications of 16p11.2 are associated with schizophrenia

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

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

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

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

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Large recurrent microdeletions associated with schizophrenia

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Rare chromosomal deletions and duplications increase risk of schizophrenia

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Identifying autism loci and genes by tracing recent shared ancestry

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Strong association of de novo copy number mutations with sporadic schizophrenia

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Structural variation of chromosomes in autism spectrum disorder

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Association between microdeletion and microduplication at 16p11.2 and autism

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

PLINK: a tool set for whole-genome association and population-based linkage analyses

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

A unified genetic theory for sporadic and inherited autism

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Strong association of de novo copy number mutations with autism

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

A genetic variant that disrupts MET transcription is associated with autism

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Detection of large-scale variation in the human genome

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Large-scale copy number polymorphism in the human genome

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

DAVID: Database for Annotation, Visualization, and Integrated Discovery

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Disruption of two novel genes by a translocation co-segregating with schizophrenia

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

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

23 March 2017

1 reference

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

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Genetic mapping in human disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

USP7/HAUSP stimulates repair of oxidative DNA lesions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Identification of copy number variation hotspots in human populations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

De novo rates and selection of large copy number variation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Clinical genetic testing for patients with autism spectrum disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Williams-Beuren syndrome.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

PCA-based population structure inference with generic clustering algorithms

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Recurrent 16p11.2 microdeletions in autism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Rethinking the nature of genetic vulnerability to autistic spectrum disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Genomic rearrangements and sporadic disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Analysis of knock-out mice to determine the role of HPC-1/syntaxin 1A in expressing synaptic plasticity.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Autism as a paradigmatic complex genetic disorder

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Chromosomal abnormalities in a clinic sample of individuals with autistic disorder

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

VI. Genome structure and cognitive map of Williams syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3939065

Autism and tuberous sclerosis

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21658581

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEURON.2011.05.002

3 references

23 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658581%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

2 references