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Human Mutation|April 14, 2025
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support ProgramRin Khang, Hane Lee, Jihye Kim, et al.
Medicine|July 15, 2022
Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseasesIn Hee Choi, Go Hun Seo, JeongYun Park, et al.
Annals of Pediatric Endocrinology & Metabolism|January 8, 2025
Cohort profile: Multicenter Networks for Ideal Outcomes of Rare Pediatric Endocrine and Metabolic Diseases in Korea (OUTSPREAD study)Yun Jeong Lee, Chong Kun Cheon, Junghwan Suh, et al.
Orphanet Journal of Rare Diseases|October 8, 2022
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructureSoo Yeon Kim, Seungbok Lee, Hyewon Woo, et al.
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