(Q40120248)

28 February 2018

title

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (English)

1 reference

28 February 2018

Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

main subject

autism spectrum disorder

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autism

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corrigendum / erratum

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author

Joseph Buxbaum

29

1 reference

28 February 2018

Elaine T Lim

Elaine T Lim

1

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George M. Church

George M Church

27

0 references

Nancy J Minshew

12

Nancy J Minshew

1 reference

28 February 2018

28

Stephen W Scherer

1 reference

28 February 2018

21

Christina M Hultman

1 reference

28 February 2018

19

Angel Carracedo

1 reference

28 February 2018

30

Christopher A Walsh

1 reference

28 February 2018

Celso Arango

17

Celso Arango

1 reference

28 February 2018

Mara Parellada

16

Mara Parellada

1 reference

28 February 2018

Anne S Kamumbu

5

Anne S Kamumbu

1 reference

28 February 2018

15

Norio Ozaki

1 reference

28 February 2018

Autism Sequencing Consortium

PMC publication ID

5672813

26

Autism Sequencing Consortium

1 reference

28 February 2018

9

Robert Sean Hill

1 reference

28 February 2018

PMC publication ID

5672813

Andreas G Chiocchetti

24

Andreas G Chiocchetti

1 reference

28 February 2018

13

Itaru Kushima

1 reference

28 February 2018

Mohammed Uddin

2

1 reference

28 February 2018

Silvia De Rubeis

3

1 reference

28 February 2018

Yingleong Chan

4

1 reference

28 February 2018

Xiaochang Zhang

6

1 reference

28 February 2018

Alissa M D'Gama

7

1 reference

28 February 2018

Sonia N Kim

8

1 reference

28 February 2018

Arthur P Goldberg

10

1 reference

28 February 2018

Christopher Poultney

11

1 reference

28 February 2018

Branko Aleksic

14

1 reference

28 February 2018

Maria J Penzol

18

1 reference

28 February 2018

Alexander Kolevzon

20

1 reference

28 February 2018

Lauren A Weiss

22

1 reference

28 February 2018

Menachem Fromer

23

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28 February 2018

Christine M Freitag

25

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28 February 2018

language of work or name

English

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publication date

17 July 2017

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28 February 2018

published in

Nature Neuroscience

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28 February 2018

volume

20

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28 February 2018

issue

9

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28 February 2018

page(s)

1217-1224

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28 February 2018

https://scigraph.springernature.com/pub.10.1038/nn.4598

exact match

0 references

cites work

The Contribution of Mosaic Variants to Autism Spectrum Disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Cell-of-origin chromatin organization shapes the mutational landscape of cancer

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

The contribution of de novo coding mutations to autism spectrum disorder

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Synaptic, transcriptional and chromatin genes disrupted in autism

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Somatic mutations in cerebral cortical malformations

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Most genetic risk for autism resides with common variation

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

A general framework for estimating the relative pathogenicity of human genetic variants

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

De novo mutations in schizophrenia implicate synaptic networks

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Single-neuron correlates of atypical face processing in autism

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Genic intolerance to functional variation and the interpretation of personal genomes

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Somatic mutation, genomic variation, and neurological disease

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Using whole-exome sequencing to identify inherited causes of autism

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Predicting functional effect of human missense mutations using PolyPhen-2.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Differential relationship of DNA replication timing to different forms of human mutation and variation

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

De Novo Gene Disruptions in Children on the Autistic Spectrum

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Modular genetic control of sexually dimorphic behaviors.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Spatio-temporal transcriptome of the human brain

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

A map of human genome variation from population-scale sequencing

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

A comprehensive catalogue of somatic mutations from a human cancer genome

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

A calcium-dependent switch in a CREST-BRG1 complex regulates activity-dependent gene expression

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Strong association of de novo copy number mutations with autism

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

The amygdala theory of autism

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

The human amygdala in social judgment.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Widespread signatures of recent selection linked to nucleosome positioning in the human lineage.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

DNA replication timing and selection shape the landscape of nucleotide variation in cancer genomes.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

Conscious and unconscious emotional learning in the human amygdala.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5672813

20 August 2018

Identifiers

DOI

10.1038/NN.4598

1 reference

28 February 2018

Dimensions Publication ID

0 references

1 reference

28 February 2018

PubMed publication ID

28714951

1 reference

28 February 2018