Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population by Eun Hye Cho, Myoungkeun Lee, Chang-Seok Ki, Chang Ahn Seol, Mi-Ae Jang

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Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome by Hyun-Young Kim, Jeehun Lee, Ja-Hyun Jang, Jong-Won Kim, Jiwon Lee, Mi-Ae Jang

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Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity by Hye-Won Cho, Hyeseon Kim, Jeong-Min Kim, Dong Mun Shin, Oc-Hee Kim, Misun Yang, Heui Seung Jo, Mi-Ae Jang, Ja-Hyun Jang, Hyun-Young Park, Yun Sil Chang, Mi-Hyun Park

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Novel causative RYR2 indel variant with exon and intron involvement inducing exon 13 skipping in a family exhibiting catecholaminergic polymorphic ventricular tachycardia by Ju Hyeon Shin, Taek Kyu Park, Sung-A. Chang, Shin Yi Jang, June Huh, Chang Ahn Seol, Chang Ahn Seol, Kyoung-Jin Park, Sung Hoon Kim, Duk-Kyung Kim, Hye Bin Gwag, Mi-Ae Jang

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Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome by Sung Eun Wang, Yubao Cheng, Jaechul Lim, Mi-Ae Jang, Emily N. Forrest, Yuna Kim, Meaghan Donahue, Sungsin Jo, Sheng-Nan Qiao, Dong Eun Lee, Jun Young Hong, Yan Xiong, Jian Jin, Siyuan Wang, Yong-hui Jiang

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