(Q37523506)

English

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

scientific article published on August 2013

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scholarly article

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1 March 2020

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome (English)

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1 March 2020

retinitis pigmentosa

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based on heuristic

inferred from title

2

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1 March 2020

3

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1 March 2020

Jeremy Schwartzentruber

11

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1 March 2020

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R G Coussa

1

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1 March 2020

P Arthurs

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1 March 2020

H Ren

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1 March 2020

I Lopez

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1 March 2020

V Keser

7

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1 March 2020

Q Fu

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1 March 2020

R Faingold

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1 March 2020

A Khan

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1 March 2020

J Majewski

12

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1 March 2020

F Hildebrandt

13

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1 March 2020

R K Koenekoop

14

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1 March 2020

publication date

1 August 2013

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1 March 2020

Clinical Genetics

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1 March 2020

84

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1 March 2020

2

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1 March 2020

150-159

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1 March 2020

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

Complex interactions between genes controlling trafficking in primary cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

NEK1 mutations cause short-rib polydactyly syndrome type majewski

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

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23 August 2017

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=3904424

23 August 2017

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

Nephronophthisis-associated ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

Functional genomics of the cilium, a sensory organelle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

Cilia-related diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

Intraflagellar Transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

Intraflagellar transport and cilia-dependent diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

Intraflagellar transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

Population genetic studies of retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

On the heredity of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

23 August 2017

Ciliary disorder of the skeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

6 September 2017

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

6 September 2017

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

6 September 2017

Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

6 September 2017

The dyf-3 gene encodes a novel protein required for sensory cilium formation in Caenorhabditis elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

2 September 2018

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3904424

2 September 2018

Evidence of Oligogenic Inheritance in Nephronophthisis

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12196

21 January 2018

Identifiers

10.1111/CGE.12196

1 reference

Europe PubMed Central

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1 March 2020

PMC publication ID

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Europe PubMed Central

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1 March 2020

PubMed publication ID

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Europe PubMed Central

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1 March 2020

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