(Q37346967)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918662%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease (English)

1 reference

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6 March 2020

2

1 reference

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6 March 2020

Alex H Wagner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918662%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Adam P. DeLuca

7

1 reference

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6 March 2020

Samuel G. Jacobson

12

1 reference

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6 March 2020

Val C. Sheffield

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918662%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Budd A. Tucker

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918662%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Edwin M. Stone

15

1 reference

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6 March 2020

11

Artur V Cideciyan

1 reference

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6 March 2020

5

Rebecca M Johnston

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918662%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

10

Richard G Weleber

1 reference

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6 March 2020

1

Terry A Braun

1 reference

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6 March 2020

9

Byron L Lam

1 reference

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6 March 2020

author name string

Jeaneen L Andorf

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918662%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Benjamin B Bakall

6

1 reference

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6 March 2020

Gerald A Fishman

8

1 reference

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6 March 2020

publication date

4 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918662%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

published in

Human Molecular Genetics

1 reference

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6 March 2020

volume

22

1 reference

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6 March 2020

issue

25

1 reference

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6 March 2020

page(s)

5136-5145

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918662%20AND%20SRC:MED&resulttype=core&format=json

An integrated map of genetic variation from 1,092 human genomes

6 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Analysis of the ABCA4 gene by next-generation sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

6 September 2017

Genomics and the eye.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

A map of human genome variation from population-scale sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Fast and accurate short read alignment with Burrows-Wheeler transform

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

ABCA4 disease progression and a proposed strategy for gene therapy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Comparison of splice sites in mammals and chicken

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Chromosomal dynamics at the Shh locus: limb bud-specific differential regulation of competence and active transcription.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

Isolation, characterization, and culture of epithelial stem cells

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842174

An analysis of allelic variation in the ABCA4 gene

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23918662

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular testing for hereditary retinal disease as part of clinical care

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23918662

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDT367

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918662%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918662%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

PubMed publication ID

23918662

1 reference