(Q37165678)

18 August 2017

Genome-wide characteristics of de novo mutations in autism (English)

1 reference

Bhooma Thiruvahindrapuram

18 August 2017

0 references

39

Lonnie Zwaigenbaum

0 references

6

Bhooma Thiruvahindrapuram

1 reference

18 August 2017

43

Peter Szatmari

1 reference

18 August 2017

38

Evdokia Anagnostou

1 reference

18 August 2017

48

Stephen W Scherer

1 reference

18 August 2017

Tao Zhang

10

0 references

Mingbang Wang

Mingbang Wang

27

0 references

Jeffrey R MacDonald

Jeffrey R MacDonald

19

0 references

Kristiina Tammimies

24

Kristiina Tammimies

1 reference

18 August 2017

31

Huanming Yang

1 reference

18 August 2017

42

Wendy Roberts

1 reference

18 August 2017

1

Ryan K C Yuen

1 reference

18 August 2017

2

Daniele Merico

1 reference

18 August 2017

40

Rosanna Weksberg

1 reference

18 August 2017

41

Bridget A Fernandez

1 reference

18 August 2017

46

Robert H Ring

1 reference

18 August 2017

Thomas Nalpathamkalam

15

Thomas Nalpathamkalam

1 reference

18 August 2017

4

Giovanna Pellecchia

1 reference

18 August 2017

45

Brendan J Frey

1 reference

18 August 2017

37

Christian R Marshall

1 reference

18 August 2017

21

Lia D'Abate

1 reference

18 August 2017

9

Dandan Cao

1 reference

18 August 2017

18

Zhuozhi Wang

1 reference

18 August 2017

22

Eric Deneault

1 reference

18 August 2017

32

Matt Bookman

1 reference

18 August 2017

Richard Jonathan Bingham

33

Jonathan Bingham

1 reference

18 August 2017

36

Mathew Pletcher

1 reference

18 August 2017

Hongzhi Cao

3

1 reference

18 August 2017

Babak Alipanahi

5

1 reference

18 August 2017

Xin Tong

7

1 reference

18 August 2017

Yuhui Sun

8

1 reference

18 August 2017

Xueli Wu

11

1 reference

18 August 2017

Xin Jin

12

1 reference

18 August 2017

Ze Zhou

13

1 reference

18 August 2017

Xiaomin Liu

14

1 reference

18 August 2017

Susan Walker

16

1 reference

18 August 2017

Jennifer L Howe

17

1 reference

18 August 2017

Ada Chan

20

1 reference

18 August 2017

Michelle T Siu

23

1 reference

18 August 2017

Mohammed Uddin

25

1 reference

18 August 2017

Mehdi Zarrei

26

1 reference

18 August 2017

Yingrui Li

28

1 reference

18 August 2017

Jun Wang

29

1 reference

18 August 2017

Jian Wang

30

1 reference

18 August 2017

Samuel S Gross

34

1 reference

18 August 2017

Dion Loy

35

1 reference

18 August 2017

David Glazer

44

1 reference

18 August 2017

Xun Xu

47

1 reference

18 August 2017

1 August 2016

1 reference

18 August 2017

1 reference

18 August 2017

1

1 reference

18 August 2017

160271-1602710

1 reference

Creative Commons Attribution 4.0 International

18 August 2017

start time

3 August 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

From the genetic architecture to synaptic plasticity in autism spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Genome-wide patterns and properties of de novo mutations in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Assessing structural variation in a personal genome-towards a human reference diploid genome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Integrative analysis of 111 reference human epigenomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

The contribution of de novo coding mutations to autism spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Synaptic, transcriptional and chromatin genes disrupted in autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Whole-genome sequence variation, population structure and demographic history of the Dutch population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

An atlas of active enhancers across human cell types and tissues

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

The role of de novo mutations in the genetics of autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Autism spectrum disorder: advances in evidence-based practice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Integrative annotation of variants from 1092 humans: application to cancer genomics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Replicative mechanisms for CNV formation are error prone

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Low-level processing of Illumina Infinium DNA Methylation BeadArrays

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Autism spectrum disorder in the genetics clinic: a review.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

A high-resolution enhancer atlas of the developing telencephalon

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

An integrated encyclopedia of DNA elements in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Using ERDS to infer copy-number variants in high-coverage genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Rate of de novo mutations and the importance of father's age to disease risk

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Individual common variants exert weak effects on the risk for autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

SWAN: Subset-quantile within array normalization for illumina infinium HumanMethylation450 BeadChips

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

DNA methylation arrays as surrogate measures of cell mixture distribution

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Genetic architecture in autism spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Predicting the functional impact of protein mutations: application to cancer genomics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Enrichment map: a network-based method for gene-set enrichment visualization and interpretation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

MutationTaster evaluates disease-causing potential of sequence alterations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

A method and server for predicting damaging missense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Detection of nonneutral substitution rates on mammalian phylogenies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Epidemiology of Pervasive Developmental Disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

High-resolution mapping of copy-number alterations with massively parallel sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Structural variation of chromosomes in autism spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Disruption of neurexin 1 associated with autism spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Strong association of de novo copy number mutations with autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Predicting deleterious amino acid substitutions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

DNA repair mechanisms and gametogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Diverse mechanisms of somatic structural variations in human cancer genomes

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Batch effects and pathway analysis: two potential perils in cancer studies involving DNA methylation array analysis.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

NSD1 mutations generate a genome-wide DNA methylation signature.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Whole-genome sequencing of quartet families with autism spectrum disorder

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4980121

Clinical detection of deletion structural variants in whole-genome sequences.

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNPJGENMED.2016.27

10.1038/NPJGENMED.2016.27

21 January 2018

Identifiers

DOI

0 references

1 reference

18 August 2017

PubMed publication ID

27525107

1 reference