Publications by authors named "Sohyun Jang"

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Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.
Rin Khang, Hane Lee, Jihye Kim, Dongseok Moon, Seokhui Jang, Sohyun Jang

Hum Mutat· April 2025

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Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.
Heonjong Han, Go Hun Seo, Seong-In Hyun, Kisang Kwon, Seung Woo Ryu, Sohyun Jang

NPJ Genom Med· January 2025

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Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of causing North Carolina macular dystrophy in Korea.
Yuri Seo, Kwangsic Joo, Junwon Lee, Amber Diaz, Sohyun Jang

Mol Vis· April 2024

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