Evidence map›Paper›PMID 30258940›Full record

ArticleGenes & diseases2018

Apert's syndrome: Study by whole exome sequencing.

Anjana Munshi, Preeti Khetarpal, Satrupa Das, Venkateshwar Rao, Monica Valecha, Manita Bansal, Roshan Kumar

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

Article in Genes & diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 33% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. 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 2 institutions in 1 country.

Anjana MunshiCentre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, Punjab, India.
Preeti KhetarpalCentre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, Punjab, India.
Satrupa DasInstitute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.
Venkateshwar RaoPositive Bioscience Ltd., Mumbai, India.
Monica ValechaPositive Bioscience Ltd., Mumbai, India.
Manita BansalDept. of Paediatrics, Civil Hospital, Bathinda, Punjab, India.
Roshan KumarCentre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, Punjab, India.
Central University of Punjab · INDr. NTR University of Health Sciences · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In the present study we attempted a parent-child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in

Indexed as

Apert syndromeCraniosynostosisExome sequencingFGFR2 geneParent–child trio study

Identifiers

PMID30258940
PMCPMC6147108
OpenAlexW2747431035

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.