Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea by Jaeso Cho, Young Shin Joo, Jihoon G. Yoon, Seung Bok Lee, Soo Yeon Kim, Jong Hee Chae, Yong Jin Kwon

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Expanding association between BICD2 variants and brain malformations and associated lissencephaly by Jaeso Cho, Haeryung Kim, Seoungbok Lee, Jihoon G Yoon, HyeJin Kim, Minhye Kim, Seoyun Jang, Woojoong Kim, Soo Yeon Kim, Jong Hee Chae

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Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing by Jihoon G. Yoon, Seungbok Lee, Soojin Park, Se Song Jang, Jaeso Cho, Man Jin Kim, Soo Yeon Kim, Woo Joong Kim, Jin Sook Lee, Jong-Hee Chae

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Broadening the scope of multigene panel analysis for adult epilepsy patients by Seungbok Lee, Mi‐Kyoung Kang, Ki Hurn So, Riyul Jang, Yong Woo Shin, Se Song Jang, Jihoon G. Yoon, Sheehyun Kim, Manjin Kim, Kon Chu, Sang Kun Lee, Ki Joong Kim, Seung Tae Baek, Byung Chan Lim, Jangsup Moon

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Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases by Jong Hyeon Ahn, Jihoon G. Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon-Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jinyoung Youn, Ja-Hyun Jang, Jong-Hee Chae, Jangsup Moon, Jin Whan Cho

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Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity by Jihoon G. Yoon, Dong Geon Jang, Sung-Gyu Cho, Chaeyoung Lee, Shin Hye Noh, Soo Kyung Seo, Jung Woo Yu, Hyeon Woo Chung, KyeoRe Han, Soon Sung Kwon, Dai Hoon Han, Jaeseong Oh, In-Jin Jang, Sang-Hoon Kim, Young-Koo Jee, Hyun Lee, Dong Won Park, Jang Won Sohn, Ho Joo Yoon, Chul Hoon Kim, Jae Myun Lee, Sang-Heon Kim, Min Goo Lee

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