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A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Oh RY, AlMail A, Cheerie D, Guirguis G, Hou H, Yuki KE, Haque B, Thiruvahindrapuram B, Marshall CR, Mendoza-Londono R, Shlien A, Kyriakopoulou LG, Walker S, Dowling JJ, Wilson MD, Costain G. Oh RY, et al. Among authors: kyriakopoulou lg. HGG Adv. 2024 Jul 18;5(3):100299. doi: 10.1016/j.xhgg.2024.100299. Epub 2024 Apr 24. HGG Adv. 2024. PMID: 38659227 Free PMC article.
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: kyriakopoulou lg. Neuromuscul Disord. 2024 Jun;39:19-23. doi: 10.1016/j.nmd.2024.04.001. Epub 2024 Apr 5. Neuromuscul Disord. 2024. PMID: 38691940