(Q36595094)

15 August 2017

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus (English)

1 reference

disability affecting intellectual abilities

15 August 2017

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

53

1 reference

15 August 2017

61

1 reference

15 August 2017

Hanne Meijers-Heijboer

54

Hanne Meijers-Heijboer

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Colby Chiang

Colby Chiang

21

0 references

Christelle Golzio

Christelle Golzio

3

0 references

Alexander J Groffen

Alexander J Groffen

62

0 references

Erik Sistermans

Erik A Sistermans

63

0 references

Björn Menten

Björn Menten

56

0 references

Michael E. Talkowski

Michael E Talkowski

6

0 references

Geert Mortier

Geert Mortier

57

0 references

Kristin Abbott

Kristin M Abbott

34

0 references

Sarah Vergult

Sarah Vergult

9

0 references

Yongguo Yu

Yongguo Yu

20

0 references

Danielle Posthuma

Danielle Posthuma

55

0 references

Stephen W. Scherer

58

Stephen W Scherer

1 reference

15 August 2017

22

James F Gusella

1 reference

15 August 2017

59

Evan E Eichler

1 reference

15 August 2017

51

Julie M Gastier-Foster

1 reference

15 August 2017

5

Jill A Rosenfeld

1 reference

15 August 2017

8

Anath C Lionel

1 reference

15 August 2017

49

Devon Lamb Thrush

1 reference

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23

Amelia M Lindgren

1 reference

15 August 2017

24

Cynthia C Morton

1 reference

15 August 2017

52

Caroline Astbury

1 reference

15 August 2017

10

Robert E Pyatt

1 reference

15 August 2017

2

Els Voorhoeve

1 reference

15 August 2017

7

Ingrid Simonic

1 reference

15 August 2017

11

Jiddeke van de Kamp

1 reference

15 August 2017

25

Ellen van Binsbergen

1 reference

15 August 2017

36

Roger Ladda

1 reference

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37

Darren M Farber

1 reference

15 August 2017

38

Patricia I Bader

1 reference

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46

Christian R Marshall

1 reference

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48

Karen W Gripp

1 reference

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60

Santhosh Girirajan

1 reference

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1

Gea Beunders

1 reference

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40

Joanne M Drautz

1 reference

15 August 2017

Luba M Pardo

4

1 reference

15 August 2017

Aggie Nieuwint

12

1 reference

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Marjan M Weiss

13

1 reference

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Patrizia Rizzu

14

1 reference

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Lucilla E N I Verwer

15

1 reference

15 August 2017

Rosalina M L van Spaendonk

16

1 reference

15 August 2017

Yiping Shen

17

1 reference

15 August 2017

Bai-lin Wu

18

1 reference

15 August 2017

Tingting Yu

19

1 reference

15 August 2017

Saskia Bulk

26

1 reference

15 August 2017

Els van Rossem

27

1 reference

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Olivier Vanakker

28

1 reference

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Ruth Armstrong

29

1 reference

15 August 2017

Soo-Mi Park

30

1 reference

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Lynn Greenhalgh

31

1 reference

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Una Maye

32

1 reference

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Nicholas J Neill

33

1 reference

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Susan Sell

35

1 reference

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Tom Cushing

39

1 reference

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Laura Konczal

41

1 reference

15 August 2017

Patricia Nash

42

1 reference

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Emily de Los Reyes

43

1 reference

15 August 2017

Melissa T Carter

44

1 reference

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Elizabeth Hopkins

45

1 reference

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Lucy R Osborne

47

1 reference

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Sayaka Hashimoto

50

1 reference

15 August 2017

language of work or name

English

0 references

publication date

17 January 2013

1 reference

American Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

92

1 reference

15 August 2017

210-220

1 reference

15 August 2017

2

1 reference

describes a project that uses

15 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3567268/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

A copy number variation morbidity map of developmental delay

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Prevalence of chronic health conditions in children with intellectual disability: a systematic literature review

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Integrating common and rare genetic variation in diverse human populations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Origins and functional impact of copy number variation in the human genome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

MUSCLE: multiple sequence alignment with high accuracy and high throughput

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

Neural stem cells and neurogenesis in the adult zebrafish brain: origin, proliferation dynamics, migration and cell fate.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567268

10.1016/J.AJHG.2012.12.011

20 September 2018

Identifiers

DOI

1 reference

15 August 2017

1 reference

15 August 2017

1 reference