(Q52576489)

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24 March 2020

title

Paternally inherited cis-regulatory structural variants are associated with autism (English)

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24 March 2020

16

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24 March 2020

Lilia M. Iakoucheva

38

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24 March 2020

Jonathan Sebat

42

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24 March 2020

William M Brandler

1

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24 March 2020

Danny Antaki

2

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24 March 2020

Madhusudan Gujral

3

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24 March 2020

Morgan L Kleiber

4

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24 March 2020

Joe Whitney

5

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24 March 2020

Michelle S Maile

6

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24 March 2020

Oanh Hong

7

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24 March 2020

Shih C Tang

12

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24 March 2020

Eoghan Harrington

15

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24 March 2020

Daniel J Turner

17

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24 March 2020

Gaganjot Kaur

19

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24 March 2020

Stephen F Kingsmore

21

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24 March 2020

Denis Bisson

23

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24 March 2020

Boyko Kakaradov

24

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24 March 2020

Amalio Telenti

25

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24 March 2020

Craig Venter

26

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24 March 2020

Roser Corominas

27

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Claudio Toma

28

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24 March 2020

Bru Cormand

29

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24 March 2020

Isabel Rueda

30

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24 March 2020

Silvina Guijarro

31

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24 March 2020

Karen S Messer

32

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24 March 2020

Maria J Arranz

34

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24 March 2020

Eric Courchesne

35

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24 March 2020

Alysson Muotri

37

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24 March 2020

Stephen W. Scherer

40

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24 March 2020

Christina Corsello

41

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24 March 2020

Caroline M Nievergelt

33

object named as

Caroline M Nievergelt

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24 March 2020

author name string

Timothy R Chapman

8

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24 March 2020

Shirley Tan

9

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24 March 2020

Prateek Tandon

10

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24 March 2020

Timothy Pang

11

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24 March 2020

Keith K Vaux

13

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24 March 2020

Yan Yang

14

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24 March 2020

Zhuozhi Wang

20

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24 March 2020

Amaia Hervas

39

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24 March 2020

Bhooma Thiruvahindrapuram

18

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24 March 2020

Joseph G Gleeson

22

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24 March 2020

Karen Pierce

36

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24 March 2020

language of work or name

English

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publication date

1 April 2018

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24 March 2020

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24 March 2020

volume

360

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24 March 2020

issue

6386

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24 March 2020

page(s)

327-331

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Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2.

24 March 2020

cites work

1 reference

12 December 2020

Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot.

1 reference

12 December 2020

Ultraconserved Elements in the Human Genome

1 reference

12 December 2020

Strong association of de novo copy number mutations with autism

1 reference

12 December 2020

A unified genetic theory for sporadic and inherited autism

1 reference

12 December 2020

Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation

1 reference

12 December 2020

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Defining functional DNA elements in the human genome

1 reference

12 December 2020

8.2% of the Human genome is constrained: variation in rates of turnover across functional element classes in the human lineage

1 reference

12 December 2020

Synaptic, transcriptional and chromatin genes disrupted in autism

1 reference

12 December 2020

The contribution of de novo coding mutations to autism spectrum disorder

1 reference

12 December 2020

A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis

1 reference

12 December 2020

Integrative analysis of 111 reference human epigenomes

1 reference

12 December 2020

Excess of rare, inherited truncating mutations in autism

1 reference

12 December 2020

Low load for disruptive mutations in autism genes and their biased transmission

1 reference

12 December 2020

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

1 reference

12 December 2020

An integrated map of structural variation in 2,504 human genomes

1 reference

12 December 2020

CTCF-Mediated Human 3D Genome Architecture Reveals Chromatin Topology for Transcription.

1 reference

12 December 2020

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

1 reference

12 December 2020

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

1 reference

12 December 2020

Frequency and Complexity of De Novo Structural Mutation in Autism

1 reference

12 December 2020

CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens

1 reference

12 December 2020

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

1 reference

12 December 2020

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

12 December 2020

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior

1 reference

12 December 2020

Prevalence and architecture of de novo mutations in developmental disorders

1 reference

12 December 2020

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

1 reference

12 December 2020

Measuring shared variants in cohorts of discordant siblings with applications to autism

1 reference

12 December 2020

Genomic Patterns of De Novo Mutation in Simplex Autism.

1 reference

12 December 2020

SV2: Accurate Structural Variation Genotyping and De Novo Mutation Detection from Whole Genomes

1 reference

12 December 2020

Identifiers

DOI

10.1126/SCIENCE.AAN2261

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29674594%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

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24 March 2020

PubMed publication ID

29674594

1 reference