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3/27/2026 6:07:04 AM | Browse: 1 | Download: 0
Publication Name World Journal of Gastroenterology
Manuscript ID 115810
Country United Arab Emirates
Received
2025-10-27 12:39
Peer-Review Started
2025-10-27 12:39
First Decision by Editorial Office Director
2025-11-18 11:09
Return for Revision
2025-11-18 11:09
Revised
2025-11-29 08:12
Publication Fee Transferred
2026-01-22 07:10
Second Decision by Editor
2026-02-04 02:52
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2026-02-04 07:56
Articles in Press
2026-02-04 07:56
Edit the Manuscript by Language Editor
Typeset the Manuscript
2026-03-17 05:52
Publish the Manuscript Online
2026-03-27 06:07
ISSN 1007-9327 (print) and 2219-2840 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2026. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Genetics & Heredity
Manuscript Type Retrospective Study
Article Title Clinical utility of genomic investigations in a Middle Eastern pediatric gastroenterology disease cohort
Manuscript Source Unsolicited Manuscript
All Author List Ali Alsarhan, Rasha Alloush, Ruchi Jain, Ahmad Abou Tayoun and Christos Tzivinikos
ORCID
Author(s) ORCID Number
Ali Alsarhan http://orcid.org/0000-0002-6283-6271
Ahmad Abou Tayoun http://orcid.org/0000-0002-9134-1673
Funding Agency and Grant Number
Corresponding Author Ahmad Abou Tayoun, Genomic Medicine Center, Dubai Health, Al Jalila Children Hospital, al jaddaf street, Dubai 00000, United Arab Emirates. ahmadat@gmail.com
Key Words Genomics; Diagnostic yield; Clinical utility; Middle East; Asia; Pediatrics
Core Tip Here we characterize the diagnostic and clinical utility of genomic investigations for a wide range of pediatric gastrointestinal disorders in a pediatric cohort from the Middle East. We show that the cumulative diagnostic yield was 55%, including 6% having multiple molecular diagnoses, mostly attributed to autosomal recessive disorders (66%). Yield was highest for patients with congenital diarrhea (73.3%) and cholestasis (62.5%). Genomic findings guided management plans in 97% of diagnosed patients. We propose a novel gene-disease association most likely due to biallelic loss-of-function variants in the NR1I3 gene.
Publish Date 2026-03-27 06:07
Citation

Alsarhan A, Alloush R, Jain R, Abou Tayoun A, Tzivinikos C. Clinical utility of genomic investigations in a Middle Eastern pediatric gastroenterology disease cohort. World J Gastroenterol 2026; 32(13): 115810

URL https://www.wjgnet.com/1007-9327/full/v32/i13/115810.htm
DOI https://dx.doi.org/10.3748/wjg.v32.i13.115810
Full Article (PDF) WJG-32-115810-with-cover.pdf
Manuscript File 115810_Auto_Edited_070430.docx
Answering Reviewers 115810-answering-reviewers.pdf
Audio Core Tip 115810-audio.m4a
Biostatistics Review Certificate 115810-biostatistics-statement.pdf
Conflict-of-Interest Disclosure Form 115810-conflict-of-interest-statement.pdf
Copyright License Agreement 115810-copyright-assignment.pdf
Signed Informed Consent Form(s) or Document(s) 115810-informed-consent-statement.pdf
Institutional Review Board Approval Form or Document 115810-institutional-review-board-statement.pdf
Non-Native Speakers of English Editing Certificate 115810-non-native-speakers.pdf
Supplementary Material 115810-supplementary-material.xlsx
Peer-review Report 115810-peer-reviews.pdf
Scientific Misconduct Check 115810-scientific-misconduct-check.png
Scientific Editor Work List 115810-scientific-editor-work-list.pdf
CrossCheck Report 115810-crosscheck-report.pdf