Evidence map›Paper›PMID 35692981›Full record

ArticleFrontiers in pediatrics2022

Exome Sequencing Identifies the Extremely Rare

Huda Husain Al-Numan, Rana Mohammed Jan, Najla Bint Saud Al-Saud, Omran M Rashidi, Nuha Mohammad Alrayes, Hadeel A Alsufyani, Abdulrahman Mujalli, Noor Ahmad Shaik, Mahmoud Hisham Mosli, Ramu Elango and 2 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

8 citing papers in PubMed, 10 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

12 authors at 3 institutions in 1 country.

Huda Husain Al-NumanDepartment of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.
Rana Mohammed JanDepartment of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.
Najla Bint Saud Al-SaudDepartment of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.
Omran M RashidiSaudi Ajal for Health Services, Riyadh, Saudi Arabia.
Nuha Mohammad AlrayesDepartment of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Hadeel A AlsufyaniDepartment of Medical Physiology, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
Abdulrahman MujalliDepartment of Laboratory Medicine, Faculty of Applied Medical Sciences, Umm Al-Qura University, Makkah, Saudi Arabia.
Noor Ahmad ShaikPrincess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
Mahmoud Hisham MosliDepartment of Internal Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Ramu ElangoPrincess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
Omar I SaadahInflammatory Bowel Disease Research Group, King Abdulaziz University, Jeddah, Saudi Arabia.
Babajan BanaganapalliPrincess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
King Abdulaziz University · SASaudi Commission for Health Specialties · SAUmm al-Qura University · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Molecular diagnosis of early onset inflammatory bowel disease (IBD) is very important for adopting suitable treatment strategies. Owing to the sparse data available, this study aims to identify the molecular basis of early onset IBD in Arab patients. Methods: A consanguineous Arab family with monozygotic twins presenting early onset IBD was screened by whole exome sequencing (WES). The variants functional characterization was performed by a series of computational biology methods. The IBD variants were further screened in Results: Genetic screening has identified the digenic autosomal recessive mode of inheritance of Conclusions: Our findings provide novel insights into the molecular etiology of pediatric onset IBD and may likely pave way in developing genomic medicine.

Indexed as

consanguineousdigenic inheritanceearly onset-inflammatory bowel diseasegene expressionmonogenic diseasesWES

Identifiers

PMID35692981
PMCPMC9178107
OpenAlexW4281570217

What OpenQuestion holds

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LicenceCC BY
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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.