Evidence map›Paper›PMID 28981474›Full record

ArticleGenes2017

The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

Jason Comander, Carol Weigel-DiFranco, Matthew Maher, Emily Place, Aliete Wan, Shyana Harper, Michael A Sandberg, Daniel Navarro-Gomez, Eric A Pierce

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
1.7field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

26 citing papers in PubMed, 45 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Jason ComanderOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. jason_comander_public@meei.harvard.edu.
Carol Weigel-DiFrancoOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. carol_weigel@meei.harvard.edu.
Matthew MaherOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. matthew_maher@meei.harvard.edu.
Emily PlaceOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. emily_place@meei.harvard.edu.
Aliete WanOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. aliete_langsdorf@meei.harvard.edu.
Shyana HarperOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. shyana_harper@meei.harvard.edu.
Michael A SandbergOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. michael_sandberg@meei.harvard.edu.
Daniel Navarro-GomezOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. daniel_navarro@meei.harvard.edu.
Eric A PierceOcular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. eric_pierce@meei.harvard.edu.
Massachusetts Eye and Ear Infirmary · USHarvard University · US

Funding

Precision Medicine for Inherited Retinal DegenerationsR01EY012910 · NEI · UNIVERSITY OF PENNSYLVANIA · PI Eric A Pierce · 1999 to 2026
$15.9M
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Eric A Pierce · 2002 to 2026
$15.1M
Mass Eye and Ear-Vision Clinical Scientist Development ProgramK12EY016335 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Reza Dana · 2004 to 2026
$12.3M
NEI NIH HHS K12 EY016335NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY012910
6 · The paper itself

Abstract

Pericentral retinitis pigmentosa (RP) is an atypical form of RP that affects the near-peripheral retina first and tends to spare the far periphery. This study was performed to further define the genetic basis of this phenotype. We identified a cohort of 43 probands with pericentral RP based on a comprehensive analysis of their retinal phenotype. Genetic analyses of DNA samples from these patients were performed using panel-based next-generation sequencing, copy number variations, and whole exome sequencing (WES). Mutations provisionally responsible for disease were found in 19 of the 43 families (44%) analyzed. These include mutations in

Indexed as

genotype/phenotype correlationsHGSNATpericentralpericentral retinal degenerationpericentral retinitis pigmentosaretinitis pigmentosarhodopsin

Identifiers

PMID28981474
PMCPMC5664106
OpenAlexW2762174917

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.