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1/27/2026 10:12:30 AM | Browse: 0 | Download: 0
Publication Name World Journal of Hepatology
Manuscript ID 115037
Country United States
Received
2025-10-09 02:30
Peer-Review Started
2025-10-09 02:30
First Decision by Editorial Office Director
2025-10-21 07:30
Return for Revision
2025-10-21 07:30
Revised
2025-10-21 18:12
Publication Fee Transferred
Second Decision by Editor
2025-11-24 02:45
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2025-11-24 07:47
Articles in Press
2025-11-24 07:47
Edit the Manuscript by Language Editor
Typeset the Manuscript
2026-01-13 03:40
Publish the Manuscript Online
2026-01-27 10:12
ISSN 1948-5182 (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: http://creativecommons.org/licenses/by-nc/4.0/
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Gastroenterology & Hepatology
Manuscript Type Editorial
Article Title Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease
Manuscript Source Invited Manuscript
All Author List Toshifumi Yodoshi
ORCID
Author(s) ORCID Number
Toshifumi Yodoshi http://orcid.org/0000-0001-7260-731X
Funding Agency and Grant Number
Corresponding Author Toshifumi Yodoshi, MD, PhD, Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229, United States. toshifumi.yodoshi@cchmc.org
Key Words Pediatric cholestasis; Genetic diagnosis; Whole exome sequencing; Precision medicine; Alagille syndrome; Wilson disease; Inherited metabolic liver disease
Core Tip The advent of whole-exome sequencing (WES) has transformed diagnosis of unexplained pediatric liver disease. In infants with cholestasis and children with cryptogenic hepatitis, comprehensive genomic testing markedly increases diagnostic yield, often exceeding 50% in recent cohorts, enabling earlier identification and management. Incorporating WES early can spare patients invasive procedures, including diagnostic liver biopsy, and facilitate timely, targeted interventions. Yet, given phenotypic heterogeneity, WES must be integrated with careful clinical assessment, family history, and selective traditional diagnostics. Falling costs and faster turnaround make WES a practical cornerstone of precision hepatology, while validation and multi-omics remain essential to realize its full potential.
Publish Date 2026-01-27 10:12
Citation

Yodoshi T. Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease. World J Hepatol 2026; 18(1): 115037

URL https://www.wjgnet.com/1948-5182/full/v18/i1/115037.htm
DOI https://dx.doi.org/10.4254/wjh.v18.i1.115037
Full Article (PDF) WJH-18-115037-with-cover.pdf
Manuscript File 115037_Auto_Edited_071147.docx
Answering Reviewers 115037-answering-reviewers.pdf
Audio Core Tip 115037-audio.mp3
Conflict-of-Interest Disclosure Form 115037-conflict-of-interest-statement.pdf
Copyright License Agreement 115037-copyright-assignment.pdf
Non-Native Speakers of English Editing Certificate 115037-non-native-speakers.pdf
Peer-review Report 115037-peer-reviews.pdf
Scientific Misconduct Check 115037-scientific-misconduct-check.png
Scientific Editor Work List 115037-scientific-editor-work-list.pdf
CrossCheck Report 115037-crosscheck-report.pdf