A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP (Q24567998)

24

0 references

Céline Helsmoortel

Céline Helsmoortel

1

0 references

Geert Vandeweyer

Geert Vandeweyer

4

0 references

Marco Fichera

Marco Fichera

18

0 references

Ann Nordgren

Ann Nordgren

16

0 references

Corrado Romano

Corrado Romano

20

0 references

Bradley P. Coe

3

Bradley P Coe

0 references

Marjolein H Willemsen

9

Marjolein H Willemsen

0 references

Kali T Witherspoon

14

Kali T Witherspoon

0 references

Lisenka Vissers

10

Lisenka E L M Vissers

0 references

Liesbeth Rooms

5

Liesbeth Rooms

0 references

Jenneke van den Ende

6

Jenneke van den Ende

0 references

Carlo L Marcelis

8

Janneke H M Schuurs-Hoeijmakers

Carlo L Marcelis

0 references

7

Janneke H M Schuurs-Hoeijmakers

0 references

Helger G Yntema

11

Helger G Yntema

0 references

Bert B A de Vries

21

Anneke T Vulto-van Silfhout

Bert B A de Vries

0 references

2

Anneke T Vulto-van Silfhout

0 references

Madhura Bakshi

12

Madhura Bakshi

0 references

author name string

Meredith Wilson

13

0 references

Helena Malmgren

15

0 references

Göran Annerén

17

0 references

Paolo Bosco

19

0 references

R Frank Kooy

23

0 references

Nathalie Van der Aa

An integrated map of genetic variation from 1,092 human genomes

25

0 references

language of work or name

English

0 references

publication date

April 2014

0 references

published in

Nature Genetics

0 references

volume

46

0 references

issue

4

0 references

page(s)

380-4

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Pleiomorphic adenoma gene-like-2, a zinc finger protein, transactivates the surfactant protein-C promoter

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948063

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Mfold web server for nucleic acid folding and hybridization prediction

7 April 2017

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

HP1 recruits activity-dependent neuroprotective protein to H3K9me3 marked pericentromeric heterochromatin for silencing of major satellite repeats

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Galaxy: a web-based genome analysis tool for experimentalists

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Mammalian SWI/SNF complexes promote MyoD-mediated muscle differentiation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

An essential switch in subunit composition of a chromatin remodeling complex during neural development

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Activity-dependent neuroprotective protein (ADNP) differentially interacts with chromatin to regulate genes essential for embryogenesis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

De Novo Gene Disruptions in Children on the Autistic Spectrum

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

De novo mutations revealed by whole-exome sequencing are strongly associated with 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=3990853

Galaxy: a platform for interactive large-scale genome analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Primer3--new capabilities and interfaces

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Detection of nonneutral substitution rates on mammalian phylogenies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

26 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

From neural development to cognition: unexpected roles for chromatin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Using whole-exome sequencing to identify inherited causes of autism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

NMD: a multifaceted response to premature translational termination

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Genetic architecture in autism spectrum disorder

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Regulation of cytoplasmic mRNA decay

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Activity-dependent neuroprotective protein modulates its own gene expression

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Activity-dependent neuroprotective protein (ADNP) expression level is correlated with the expression of the sister protein ADNP2: deregulation in schizophrenia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Chromatin remodelling during development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

RTPrimerDB: the portal for real-time PCR primers and probes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

ADNP differential nucleus/cytoplasm localization in neurons suggests multiple roles in neuronal differentiation and maintenance

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Enhancements and modifications of primer design program Primer3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

NAP: research and development of a peptide derived from activity-dependent neuroprotective protein (ADNP).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Role of an mSin3A-Swi/Snf chromatin remodeling complex in the feedback repression of bile acid biosynthesis by SHP.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Generation of the dominant-negative mutant of hArpNbeta: a component of human SWI/SNF chromatin remodeling complex

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Autism and Asperger syndrome: coexistence with other clinical 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=3990853

Cloning and characterization of the human activity-dependent neuroprotective protein.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

The HP1 chromo shadow domain binds a consensus peptide pentamer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990853

Diagnostic exome sequencing in persons with severe intellectual disability

27 September 2017

1 reference

A de novo paradigm for mental retardation.

21 January 2018

1 reference

Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model.

21 January 2018

1 reference

Protection against developmental retardation in apolipoprotein E-deficient mice by a fatty neuropeptide: implications for early treatment of Alzheimer's disease.

21 January 2018

1 reference

Erratum: Regulation of cytoplasmic mRNA decay

21 January 2018

1 reference

Activity-dependent neuroprotective protein: a novel gene essential for brain formation.

21 January 2018

1 reference

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1038/NG.2899

1 reference

Dimensions Publication ID

2637797

1009348024

0 references

2637797

1 reference

1 reference

1 reference