(Q37125995)

English

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

scientific article published on March 2011

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scholarly article

1 reference

Europe PubMed Central

18 August 2017

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing (English)

1 reference

Europe PubMed Central

18 August 2017

1 reference

based on heuristic

inferred from title

primary ciliary dyskinesia

1 reference

based on heuristic

inferred from title

object named as

Karen E Weck

8

0 references

4

object named as

Heymut Omran

1 reference

Europe PubMed Central

18 August 2017

Maimoona A Zariwala

9

object named as

Maimoona A Zariwala

1 reference

Europe PubMed Central

18 August 2017

5

object named as

Chris Bizon

1 reference

Europe PubMed Central

18 August 2017

Jonathan S Berg

1

object named as

Jonathan S Berg

1 reference

Europe PubMed Central

18 August 2017

author name string

James P Evans

2

1 reference

Europe PubMed Central

18 August 2017

Margaret W Leigh

3

1 reference

Europe PubMed Central

18 August 2017

Ketan Mane

6

1 reference

Europe PubMed Central

18 August 2017

Michael R Knowles

7

1 reference

Europe PubMed Central

18 August 2017

language of work or name

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publication date

1 March 2011

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Europe PubMed Central

18 August 2017

Genetics in Medicine

1 reference

Europe PubMed Central

18 August 2017

13

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Europe PubMed Central

18 August 2017

218-229

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Europe PubMed Central

18 August 2017

3

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Europe PubMed Central

18 August 2017

https://scigraph.springernature.com/pub.10.1097/gim.0b013e318203cff2

0 references

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

1 reference

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Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.

1 reference

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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

1 reference

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Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics.

1 reference

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Clinical assessment incorporating a personal genome

1 reference

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

1 reference

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Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

1 reference

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14 September 2017

Exome sequencing identifies the cause of a mendelian disorder

1 reference

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

1 reference

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Next generation sequence analysis for mitochondrial disorders

1 reference

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Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

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Massively parallel sequencing: the next big thing in genetic medicine

1 reference

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Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

1 reference

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Next-generation sequencing: from basic research to diagnostics

1 reference

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14 September 2017

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

1 reference

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Keeping up with the next generation: massively parallel sequencing in clinical diagnostics

1 reference

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14 September 2017

The Genome Sequencer FLX System--longer reads, more applications, straight forward bioinformatics and more complete data sets

1 reference

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14 September 2017

The complete genome of an individual by massively parallel DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755008

14 September 2017

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

1 reference

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Accuracy and quality of massively parallel DNA pyrosequencing

1 reference

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Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

1 reference

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Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

1 reference

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14 September 2017

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

1 reference

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Dissecting the axoneme interactome: the mammalian orthologue of Chlamydomonas PF6 interacts with sperm-associated antigen 6, the mammalian orthologue of Chlamydomonas PF16

1 reference

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Human non-synonymous SNPs: server and survey

1 reference

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Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia

1 reference

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

1 reference

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Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia

1 reference

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Prediction of deleterious human alleles

1 reference

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Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes

1 reference

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dbSNP: the NCBI database of genetic variation

1 reference

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Exome sequencing makes medical genomics a reality

1 reference

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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

1 reference

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1 reference

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1 reference

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21 January 2018

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10.1097/GIM.0B013E318203CFF2

1 reference

Europe PubMed Central

18 August 2017

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1 reference

Europe PubMed Central

18 August 2017

1 reference

Europe PubMed Central

18 August 2017

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