(Q24339447)

English

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 June 2017

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 June 2017

Armadillo repeat containing 4

1 reference

GOA release 2020-03-11

Dynein axonemal heavy chain 5

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

primary ciliary dyskinesia

1 reference

based on heuristic

inferred from title

whole genome sequencing

1 reference

based on heuristic

inferred from title

Amelia Shoemark

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Miriam Schmidts

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Peter J Scambler

10

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

16

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5 June 2020

17

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5 June 2020

15

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Claire Hogg

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5 June 2020

Hannah M Mitchison

21

object named as

Hannah M Mitchison

1 reference

Europe PubMed Central

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5 June 2020

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Alexandros Onoufriadis

1

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5 June 2020

Mustafa M Munye

3

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5 June 2020

Mitali Patel

6

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Europe PubMed Central

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5 June 2020

Elisabeth M Rosser

7

1 reference

Europe PubMed Central

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5 June 2020

Chiara Bacchelli

8

1 reference

Europe PubMed Central

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5 June 2020

Philip L Beales

9

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5 June 2020

Stephen L Hart

11

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Jeannette E Danke-Roelse

12

1 reference

Europe PubMed Central

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5 June 2020

John J Sloper

13

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Sarah Hull

14

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Anthony T Moore

18

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Europe PubMed Central

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5 June 2020

Eddie M K Chung

19

1 reference

Europe PubMed Central

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5 June 2020

UK10K

20

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Europe PubMed Central

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5 June 2020

language of work or name

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publication date

7 November 2013

1 reference

Europe PubMed Central

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24 June 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

51

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Europe PubMed Central

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5 June 2020

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

61-67

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

DYX1C1 is required for axonemal dynein assembly and ciliary motility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

19 March 2017

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

19 March 2017

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

19 March 2017

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

19 March 2017

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

19 March 2017

Radial spoke proteins of Chlamydomonas flagella

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

19 March 2017

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

19 March 2017

SMART: a web-based tool for the study of genetically mobile domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

19 March 2017

Mechanistic insights from structural studies of beta-catenin and its binding partners

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

19 March 2017

Kinectin anchors the translation elongation factor-1 delta to the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

19 March 2017

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

7 April 2017

Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

27 September 2017

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

27 September 2017

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

27 September 2017

Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

27 September 2017

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

27 September 2017

Armadillo-repeat protein functions: questions for little creatures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

27 September 2017

The motile cilium in development and disease: emerging new insights

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

27 September 2017

Primary ciliary dyskinesia: current state of the art.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888613

27 September 2017

Identification of novel lung genes in bronchial epithelium by serial analysis of gene expression

1 reference

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27 September 2017

An unconventional myosin in Drosophila reverses the default handedness in visceral organs

1 reference

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21 January 2018

Type ID unconventional myosin controls left-right asymmetry in Drosophila

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101938

21 January 2018

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24203976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ciliated air-liquid cultures as an aid to diagnostic testing of primary ciliary dyskinesia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24203976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMEDGENET-2013-101938

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24203976%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

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