Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations (Q29030218)

26 March 2017

0 references

23

0 references

Jay Shendure

object named as

Jay Shendure

22

0 references

Elhanan Borenstein

18

object named as

Elhanan Borenstein

1 reference

26 March 2017

7

Roie Levy

1 reference

26 March 2017

20

Deborah A. Nickerson

1 reference

26 March 2017

13

Benjamin Vernot

1 reference

26 March 2017

1

Brian J. O’Roak

1 reference

26 March 2017

11

Emily H. Turner

1 reference

26 March 2017

6

Bradley P. Coe

1 reference

26 March 2017

15

Carl Baker

1 reference

26 March 2017

14

Maika Malig

1 reference

26 March 2017

9

Choli Lee

1 reference

26 March 2017

5

Niklas Krumm

1 reference

26 March 2017

12

Ian B. Stanaway

1 reference

26 March 2017

17

Joshua M. Akey

1 reference

26 March 2017

3

Santhosh Girirajan

1 reference

26 March 2017

4

Emre Karakoc

1 reference

26 March 2017

19

Mark J. Rieder

1 reference

26 March 2017

author name string

Laura Vives

2

1 reference

26 March 2017

Arthur Ko

8

1 reference

26 March 2017

Joshua D. Smith

10

1 reference

26 March 2017

Beau Reilly

16

1 reference

26 March 2017

Raphael Bernier

21

1 reference

26 March 2017

language of work or name

English

0 references

publication date

4 April 2012

1 reference

26 March 2017

1 reference

26 March 2017

volume

485

1 reference

26 March 2017

issue

7397

1 reference

26 March 2017

page(s)

246-250

1 reference

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

26 March 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Fast and accurate short read alignment with Burrows-Wheeler transform

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Autism genetics: strategies, challenges, and opportunities

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

GeneMANIA: a real-time multiple association network integration algorithm for predicting gene function

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Mapping and quantifying mammalian transcriptomes by RNA-Seq

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

The ups and downs of Wnt signaling in prevalent neurological disorders

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

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

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

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=3350576

A framework for variation discovery and genotyping using next-generation DNA sequencing 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=3350576

Cytoscape 2.8: new features for data integration and network visualization

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

A copy number variation morbidity map of developmental delay

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

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=3350576

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

DADA: Degree-Aware Algorithms for Network-Based Disease Gene Prioritization

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Solving the autism puzzle a few pieces at a time

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Protein interactome reveals converging molecular pathways among autism 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=3350576

Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

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=3350576

mrsFAST: a cache-oblivious algorithm for short-read mapping.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Target-enrichment strategies for next-generation sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Rate, molecular spectrum, and consequences of human mutation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

The non-apoptotic role of p53 in neuronal biology: enlightening the dark side of the moon

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Massively parallel exon capture and library-free resequencing across 16 genomes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Population analysis of large copy number variants and hotspots of human genetic 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=3350576

A comparison between screened NIMH and clinically interviewed control samples on neuroticism and extraversion

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Axonal netrin-Gs transneuronally determine lamina-specific subdendritic segments.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Wnt signaling: multiple functions in neural development

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett 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=3350576

The World Mental Health (WMH) Survey Initiative Version of the World Health Organization (WHO) Composite International Diagnostic Interview (CIDI)

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

NIMH Human Genetics Initiative: 2003 update

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

De novo mutations of SETBP1 cause Schinzel-Giedion 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=3350576

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) 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=3350576

Computing topological parameters of biological networks

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3350576

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

26 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038/NATURE10989

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NATURE10989

2 references

26 March 2017

Dimensions Publication ID

1027113143

0 references

1 reference

1 reference

PubMed publication ID

22495309

1 reference