Evidence map›Paper›PMID 32489286›Full record

ArticleSaudi journal of biological sciences2020

Whole exome sequencing of a Saudi family and systems biology analysis identifies

Hifaa A Bokhari, Noor Ahmad Shaik, Babajan Banaganapalli, Khalidah Khalid Nasser, Hossain Ibrahim Ageel, Ali Saad Al Shamrani, Omran M Rashidi, Omar Yaseen Al Ghubayshi, Jilani Shaik, Aftab Ahmad and 4 more

Open access · hybridAbstract read
In one paragraph

Article in Saudi journal of biological sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.6field-weighted citation impact, top 17% 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

10 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Exome Sequencing Identifies the Extremely RareFrontiers in pediatrics · 2022
    Article
  6. Article
  7. Article
  8. Article
  9. NovelFrontiers in medicine · 2021
    Article
  10. 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

14 authors at 4 institutions in 1 country.

Hifaa A BokhariDepartment of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Saudi Arabia.
Noor Ahmad ShaikDepartment of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Saudi Arabia.
Babajan BanaganapalliDepartment of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Saudi Arabia.
Khalidah Khalid NasserPrincess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
Hossain Ibrahim AgeelDepartment of Pediatrics, King Fahd Central Hospital, Jazan, Saudi Arabia.
Ali Saad Al ShamraniDepartment of Pedidatrics, Maternity and Children Hospital, Makkah, Saudi Arabia.
Omran M RashidiDepartment of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Saudi Arabia.
Omar Yaseen Al GhubayshiDepartment of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Saudi Arabia.
Jilani ShaikDept of Biochemistry, Genome Research Chair, Faculty of Science, King Saud University, Saudi Arabia.
Aftab AhmadDepartment of Health Information Technology, Faculty of Applied Studies, King Abdulaziz University, Jeddah, Saudi Arabia.
Nuha Mohammad AlrayesDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Jumana Yousuf Al-AamaDepartment of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Saudi Arabia.
Ramu ElangoDepartment of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Saudi Arabia.
Omar Ibrahim SaadahPediatric Gastroenterology Unit, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
King Abdulaziz University · SAKing Fahad Central Hospital · SAKing Saud University · SAMaternity and Children's Hospital · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Celiac disease (CD) is a gastrointestinal disorder whose genetic basis is not fully understood. Therefore, we studied a Saudi family with two CD affected siblings to discover the causal genetic defect. Through whole exome sequencing (WES), we identified that both siblings have inherited an extremely rare and deleterious

Indexed as

Autosomal recessiveCeliac Disease (CD)CPED1Molecular analysisWhole exome sequencing

Identifiers

PMID32489286
PMCPMC7254030
OpenAlexW3017079880

What Socratic 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 Socratic graph.