(Q34997249)

English

Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

autism spectrum disorder

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1 reference

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inferred from title

Yoshinori Tsurusaki

object named as

Yoshinori Tsurusaki

5

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Hirotomo Saitsu

object named as

Hirotomo Saitsu

7

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author name string

Eriko Koshimizu

1

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Europe PubMed Central

PubMed publication ID

5 August 2017

Satoko Miyatake

2

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Nobuhiko Okamoto

3

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Mitsuko Nakashima

4

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Noriko Miyake

6

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Naomichi Matsumoto

8

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Europe PubMed Central

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5 August 2017

language of work or name

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publication date

16 September 2013

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Europe PubMed Central

PubMed publication ID

5 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

8

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Europe PubMed Central

PubMed publication ID

5 August 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

e74167

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

copyright license

Creative Commons Attribution 4.0 International

16 September 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

A single strand that links multiple neuropathologies in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

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

1 reference

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8 July 2018

Common genetic variants, acting additively, are a major source of risk for autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Comparison of next-generation sequencing systems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers

1 reference

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De Novo Gene Disruptions in Children on the Autistic Spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Performance comparison of benchtop high-throughput sequencing platforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

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Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

1 reference

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Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair

1 reference

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8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Genetic architecture in autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Genome assembly quality: assessment and improvement using the neutral indel model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Mapping short DNA sequencing reads and calling variants using mapping quality scores

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Human serotonin transporter variants display altered sensitivity to protein kinase G and p38 mitogen-activated protein kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Base-calling of automated sequencer traces using phred. II. Error probabilities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

Autism as a strongly genetic disorder: evidence from a British twin study

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3774667

8 July 2018

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0074167

21 January 2018

Rare inherited variation in autism: beginning to see the forest and a few trees

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0074167

21 January 2018

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/24066114

12 December 2020

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10.1371/JOURNAL.PONE.0074167

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

2013PLoSO...874167K

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

ResearchGate publication ID

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