Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. (Q37016817)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23260136%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23260136%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

main subject

autism

0 references

whole genome sequencing

1 reference

27

1 reference

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21 February 2020

Jacob J Michaelson

1

1 reference

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21 February 2020

Balvindar Singh

20

1 reference

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21 February 2020

Lilia M. Iakoucheva

25

1 reference

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21 February 2020

Jun Wang

28

1 reference

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21 February 2020

Jonathan Sebat

29

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21 February 2020

24

Steven McCarroll

1 reference

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21 February 2020

3

Madhusudan Gujral

1 reference

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21 February 2020

author name string

Yujian Shi

2

1 reference

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21 February 2020

Hancheng Zheng

4

1 reference

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21 February 2020

Dheeraj Malhotra

5

1 reference

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21 February 2020

Xin Jin

6

1 reference

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21 February 2020

Minghan Jian

7

1 reference

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21 February 2020

Guangming Liu

8

1 reference

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21 February 2020

Douglas Greer

9

1 reference

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21 February 2020

Abhishek Bhandari

10

1 reference

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21 February 2020

Wenting Wu

11

1 reference

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21 February 2020

Roser Corominas

12

1 reference

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21 February 2020

Aine Peoples

13

1 reference

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21 February 2020

Amnon Koren

14

1 reference

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21 February 2020

Athurva Gore

15

1 reference

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21 February 2020

Shuli Kang

16

1 reference

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21 February 2020

Guan Ning Lin

17

1 reference

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21 February 2020

Jasper Estabillo

18

1 reference

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21 February 2020

Therese Gadomski

19

1 reference

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21 February 2020

Kun Zhang

21

1 reference

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21 February 2020

Natacha Akshoomoff

22

1 reference

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21 February 2020

Christina Corsello

23

1 reference

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21 February 2020

Yingrui Li

26

1 reference

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21 February 2020

language of work or name

English

0 references

publication date

1 December 2012

1 reference

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21 February 2020

1 reference

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21 February 2020

volume

151

1 reference

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21 February 2020

page(s)

1431-1442

1 reference

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21 February 2020

issue

7

1 reference

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Estimating the human mutation rate using autozygosity in a founder population

21 February 2020

cites work

1 reference

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A direct characterization of human mutation based on microsatellites

29 September 2017

1 reference

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

29 September 2017

1 reference

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forestSV: structural variant discovery through statistical learning

29 September 2017

1 reference

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Clinical application of exome sequencing in undiagnosed genetic conditions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

De Novo Gene Disruptions in Children on the Autistic Spectrum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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CNVs: harbingers of a rare variant revolution in psychiatric genetics

29 September 2017

1 reference

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High frequencies of de novo CNVs in bipolar disorder and schizophrenia

29 September 2017

1 reference

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29 September 2017

1 reference

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Variation in genome-wide mutation rates within and between human families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Protein interactome reveals converging molecular pathways among autism disorders

29 September 2017

1 reference

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Pervasive multinucleotide mutational events in eukaryotes

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function

29 September 2017

1 reference

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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

29 September 2017

1 reference

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Rate, molecular spectrum, and consequences of human mutation

29 September 2017

1 reference

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The role of genetic variation in the causation of mental illness: an evolution-informed framework

29 September 2017

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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

29 September 2017

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Fast and accurate short read alignment with Burrows-Wheeler transform

29 September 2017

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Predicting human nucleosome occupancy from primary sequence

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Gene conversion: mechanisms, evolution and human disease

29 September 2017

1 reference

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Genomic rearrangements and sporadic disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Evidence for mutation showers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

29 September 2017

1 reference

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Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Strong association of de novo copy number mutations with autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

The histone code at DNA breaks: a guide to repair?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Initial sequence of the chimpanzee genome and comparison with the human genome

29 September 2017

1 reference

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Mutation rate variation in the mammalian genome

29 September 2017

1 reference

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Compositional evolution of noncoding DNA in the human and chimpanzee genomes

29 September 2017

1 reference

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Covariation in frequencies of substitution, deletion, transposition, and recombination during eutherian evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

The roles of REV3 and RAD57 in double-strand-break-repair-induced mutagenesis of Saccharomyces cerevisiae

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Human SNP variability and mutation rate are higher in regions of high recombination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Mechanisms of transcription-coupled DNA repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Evolving responsively: adaptive mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

The origins, patterns and implications of human spontaneous mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Estimate of the mutation rate per nucleotide in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Isochores result from mutation not selection

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Molecular basis of base substitution hotspots in Escherichia coli

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

A molecular approach to estimating the human deleterious mutation rate.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Revising the human mutation rate: implications for understanding human evolution.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Chromatin organization is a major influence on regional mutation rates in human cancer cells.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Why do human diversity levels vary at a megabase scale?

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

The rate of spontaneous mutation of a human gene. 1935.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Are 100,000 "SNPs" useless?

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3712641

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

20 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23260136

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.CELL.2012.11.019

1 reference

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release_xx3wc2pdsjaq5l7esps54jyxhu

21 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xx3wc2pdsjaq5l7esps54jyxhu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23260136%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

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