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

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disability affecting intellectual abilities

15 August 2017

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intellectual disability

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based on heuristic

inferred from title

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53

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61

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Hanne Meijers-Heijboer

54

Hanne Meijers-Heijboer

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Colby Chiang

Colby Chiang

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Christelle Golzio

Christelle Golzio

3

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Alexander J Groffen

Alexander J Groffen

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Erik Sistermans

Erik A Sistermans

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Björn Menten

Björn Menten

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Michael E. Talkowski

Michael E Talkowski

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Geert Mortier

Geert Mortier

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Kristin Abbott

Kristin M Abbott

34

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Sarah Vergult

Sarah Vergult

9

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Yongguo Yu

Yongguo Yu

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Danielle Posthuma

Danielle Posthuma

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Stephen W. Scherer

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Stephen W Scherer

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James F Gusella

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Evan E Eichler

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Julie M Gastier-Foster

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Jill A Rosenfeld

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Anath C Lionel

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Devon Lamb Thrush

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Amelia M Lindgren

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Cynthia C Morton

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Caroline Astbury

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Robert E Pyatt

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Els Voorhoeve

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Ingrid Simonic

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Jiddeke van de Kamp

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Ellen van Binsbergen

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Roger Ladda

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Darren M Farber

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Patricia I Bader

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Christian R Marshall

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Karen W Gripp

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Santhosh Girirajan

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Gea Beunders

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Joanne M Drautz

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Luba M Pardo

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Aggie Nieuwint

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Marjan M Weiss

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Patrizia Rizzu

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Lucilla E N I Verwer

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Rosalina M L van Spaendonk

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Yiping Shen

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Bai-lin Wu

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Tingting Yu

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Saskia Bulk

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Els van Rossem

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Olivier Vanakker

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Soo-Mi Park

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Lynn Greenhalgh

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Una Maye

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Susan Sell

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Tom Cushing

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Laura Konczal

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Patricia Nash

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Emily de Los Reyes

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Melissa T Carter

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Elizabeth Hopkins

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Lucy R Osborne

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Sayaka Hashimoto

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language of work or name

English

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publication date

17 January 2013

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American Journal of Human Genetics

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92

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210-220

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describes a project that uses

15 August 2017

ImageJ

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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