(Q42011199)

15 October 2017

Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa (English)

1 reference

15 October 2017

1 reference

1 reference

6

1 reference

15 October 2017

David G Birch

4

0 references

George Weinstock

object named as

George M Weinstock

7

0 references

Stephen P. Daiger

1

object named as

Stephen P Daiger

1 reference

15 October 2017

Lori S Sullivan

2

1 reference

15 October 2017

Sara J Bowne

3

1 reference

15 October 2017

John R Heckenlively

5

1 reference

15 October 2017

language of work or name

English

0 references

publication date

1 January 2010

1 reference

Advances in Experimental Medicine and Biology

15 October 2017

7

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

15 October 2017

664

1 reference

15 October 2017

325-331

1 reference

Somatic mutations affect key pathways in lung adenocarcinoma

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

Direct selection of human genomic loci by microarray hybridization

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

The proteome of the mouse photoreceptor sensory cilium complex

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

Perspective on genes and mutations causing retinitis pigmentosa

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

Characterization and prediction of alternative splice sites

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

SIFT: Predicting amino acid changes that affect protein function

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

Dragon Promoter Finder: recognition of vertebrate RNA polymerase II promoters

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

First pass annotation of promoters on human chromosome 22.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

Amino acid difference formula to help explain protein evolution

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909649

10.1007/978-1-4419-1399-9_37

17 August 2018

Identifiers

DOI

1 reference

15 October 2017

1 reference

15 October 2017

PubMed publication ID

20238032

1 reference