Evidence map›Paper›PMID 29092958›Full record

ArticleCold Spring Harbor molecular case studies2018

M Reza Sailani, James Chappell, Inlora Jingga, Anil Narasimha, Amin Zia, Janet Linnea Lynch, Safoura Mazrouei, Jonathan A Bernstein, Omid Aryani, Michael P Snyder

Open access · diamondAbstract read
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
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

9 citing papers in PubMed, 19 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

10 authors at 3 institutions in 3 countries.

M Reza SailaniDepartment of Genetics, Stanford University, Stanford, California 94304, USA.
James ChappellDepartment of Genetics, Stanford University, Stanford, California 94304, USA.
Inlora JinggaDepartment of Genetics, Stanford University, Stanford, California 94304, USA.
Anil NarasimhaDepartment of Genetics, Stanford University, Stanford, California 94304, USA.
Amin ZiaDepartment of Genetics, Stanford University, Stanford, California 94304, USA.
Janet Linnea LynchDepartment of Genetics, Stanford University, Stanford, California 94304, USA.
Safoura MazroueiClinic of Internal Medicine, Department of Cardiology, University Heart Center, Jena University Hospital, 07747 Jena, Germany.
Jonathan A BernsteinDepartment of Pediatrics, Stanford University, Stanford, California 94304, USA.
Omid AryaniDepartment of Neuroscience, Iran University of Medical Sciences, Tehran 1449614535, Iran.
Michael P SnyderDepartment of Genetics, Stanford University, Stanford, California 94304, USA.
Stanford University · USIran University of Medical Sciences · IRJena University Hospital · DE

Funding

INSTITUTIONAL TRAINING GRANT IN GENOME SCIENCET32HG000044 · NHGRI · STANFORD UNIVERSITY · PI MICHAEL P. SNYDER · 1995 to 2026
$32.2M
Stanford Career Development Program in Omics of Lung DiseasesK12HL120001 · NHLBI · STANFORD UNIVERSITY · PI NICOLLS, MARK ROBERT, RABINOVITCH, MARLENE · 2013 to 2017
$1.3M
Medical Research Council MC_PC_15018NHGRI NIH HHS T32 HG000044NHLBI NIH HHS K12 HL120001
6 · The paper itself

Abstract

Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness. Here we report genetic characterization of a consanguineous family segregating an uncharacterized from of skeletal dysplasia. Whole-exome sequencing of four affected siblings and their parents identified a loss-of-function homozygous mutation in the

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseAdolescentCCN Intercellular Signaling ProteinsChildChild, PreschoolExome SequencingFemaleHumansJoint DiseasesMaleMutationPedigreePhenotypeCCN6 protein, humanCCN Intercellular Signaling Proteinsmultiple skeletal anomaliesspondyloepimetaphyseal dysplasia

Identifiers

PMID29092958
PMCPMC5793776
OpenAlexW2766623165

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.