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A novel deep intronic variant in LAMA2 identified by RNA sequencing.
Djordjevic D, Alawneh I, Amburgey K, Yuki KE, Kyriakopoulou LG, Navickiene V, Stavropoulos J, Yoon G, Dowling JJ, Gonorazky H. Djordjevic D, et al. Among authors: yoon g. Neuromuscul Disord. 2024 Jun;39:19-23. doi: 10.1016/j.nmd.2024.04.001. Epub 2024 Apr 5. Neuromuscul Disord. 2024. PMID: 38691940
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: yoon g. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Sagath L, Kiiski K, Naidu K, Patel K, Jonson PH, Laarne M, Djordjevic D, Yoon G, LaGroon A, Rogers C, Galindo MK, Scherer K, Kunstmann E, Koparir E, Ho D, Davis M, Joshi P, Zygmunt A, Orbach R, Donkervoort S, Bönnemann CG, Savarese M, Echaniz-Laguna A, Biancalana V, Genetti CA, Iannaccone ST, Beggs AH, Wallgren-Pettersson C, Henning F, Pelin K, Lehtokari VL. Sagath L, et al. Among authors: yoon g. medRxiv [Preprint]. 2024 Oct 4:2024.10.04.24313542. doi: 10.1101/2024.10.04.24313542. medRxiv. 2024. PMID: 39802796 Free PMC article. Preprint.
Hidden route of protein damage through oxygen-confined photooxidation.
Kim S, Kim E, Park M, Kim SH, Kim BG, Na S, Sadongo VW, Wijesinghe WCB, Eom YG, Yoon G, Jeong H, Hwang E, Lee C, Myung K, Kim CU, Choi JM, Min SK, Kwon TH, Min D. Kim S, et al. Among authors: yoon g. Nat Commun. 2024 Dec 30;15(1):10873. doi: 10.1038/s41467-024-55168-z. Nat Commun. 2024. PMID: 39738007 Free PMC article.
Accurate predictions of SARS-CoV-2 infectivity from comprehensive analysis.
Park J, Choi W, Seong DY, Jeong S, Lee JY, Park HJ, Chung DS, Yi K, Kim U, Yoon GY, Kim H, Kim T, Ko S, Min EJ, Cho HS, Cho NH, Hong D. Park J, et al. Among authors: yoon gy. Elife. 2024 Dec 24;13:RP99833. doi: 10.7554/eLife.99833. Elife. 2024. PMID: 39717902 Free PMC article.
1,040 results