Publication Name	World Journal of Gastroenterology
Manuscript ID	115810
Country	United Arab Emirates

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
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.
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; In press

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

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/
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