Evidence map›Paper›PMID 32411380›Full record

ArticleHuman genome variation2020

Mutations in

Raheela Nadeem, Firoz Kabir, Jiali Li, Libe Gradstein, Xiaodong Jiao, Bushra Rauf, Muhammad Asif Naeem, Muhammad Zaman Assir, Sheikh Riazuddin, Radha Ayyagari and 2 more

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

Article in Human genome variation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.2field-weighted citation impact, top 51% 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

5 citing papers in PubMed, 5 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Review
  5. Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022
    Review
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

12 authors at 8 institutions in 2 countries.

Raheela Nadeem *1National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700 Pakistan.
Firoz Kabir *2The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287 USA.
Jiali Li *3Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 USA.
Libe Gradstein3Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 USA.
Xiaodong Jiao3Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 USA.
Bushra Rauf1National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700 Pakistan.
Muhammad Asif Naeem1National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700 Pakistan.
Muhammad Zaman AssirAllama Iqbal Medical College, University of Health Sciences, Lahore, 54550 Pakistan.
Sheikh Riazuddin1National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700 Pakistan.
Radha Ayyagari6Shiley Eye Institute, University of California San Diego, La Jolla, CA 92093 USA.
J Fielding Hejtmancik3Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 USA.
S Amer Riazuddin2The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287 USA.
National Eye Institute · USCentre of Excellence in Molecular Biology · PKAllama Iqbal Medical College · PKJohns Hopkins Medicine · USJohns Hopkins University · USUniversity of California, San Diego · USUniversity of Health Sciences Lahore · PKUniversity of the Punjab · PK

Funding

Inherited Ocular DiseasesZIAEY000272 · NEI · NATIONAL EYE INSTITUTE · PI HEJTMANCIK, JAMES F. · 2009 to 2025
$27.0M
6 · The paper itself

Abstract

This study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with retinitis pigmentosa (RP) displaying visual difficulties, including nyctalopia and constricted visual fields. Linkage analysis and Sanger sequencing resulted in the identification of a previously reported nonsense mutation, c.847C > T, in exon 5 of

Indexed as

Genetic linkage studyGenetic markers

Identifiers

PMID32411380
PMCPMC7217820
OpenAlexW3025022097

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.