Evidence map›Paper›PMID 32884773›Full record

ArticleClinical case reports2020

Novel homozygous variant in

Chandreshkumar Patel, Anas M Khanshour, David Wilkes, Jonathan J Rios, Kelly W Sheff, Lorien Nassi, Carol A Wise

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

Article in Clinical case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 40% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Novel homozygous variant inClinical case reports · 2020
    Article
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

7 authors at 3 institutions in 1 country.

Chandreshkumar PatelScottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USA.ORCID https://orcid.org/0000-0001-7437-7036
Anas M KhanshourScottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USA.
David WilkesRadiology Department Texas Scottish Rite Hospital for Children Dallas TX USA.
Jonathan J RiosScottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USA.
Kelly W SheffNorth Texas Genome Center University of Texas at Arlington Arlington TX USA.
Lorien NassiDepartment of Pediatrics University of Texas Southwestern Medical Center Dallas TX USA.
Carol A WiseScottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USA.ORCID https://orcid.org/0000-0002-6790-2194
Texas Scottish Rite Hospital for Children · USThe University of Texas at Arlington · USThe University of Texas Southwestern Medical Center · US

Funding

DIVISION OF CELL &MOLECULAR BIOLOGY TRAINING PROGRAMT32GM008203 · NIGMS · UT SOUTHWESTERN MEDICAL CENTER · PI COBB, MELANIE H. · 1987 to 2018
$7.0M
NIGMS NIH HHS T32 GM008203
6 · The paper itself

Abstract

We present the use of whole-genome sequencing to correctly diagnose progressive pseudorheumatoid dysplasia in patients with atypical clinical and radiologic findings and prior diagnosis of juvenile idiopathic arthritis.

Indexed as

juvenile idiopathic arthritis (JIA)progressive pseudorheumatoid dysplasia (PPD)rheumatoid arthritiswhole‐genome sequencing (WGS)WISP3

Identifiers

PMID32884773
PMCPMC7455413
OpenAlexW3022820657

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.