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De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G. Djordjevic D, et al. Am J Hum Genet. 2022 Apr 7;109(4):759-763. doi: 10.1016/j.ajhg.2022.03.006. Am J Hum Genet. 2022. PMID: 35395209 Free PMC article. No abstract available.
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G. Djordjevic D, et al. Am J Hum Genet. 2021 Jan 7;108(1):186-193. doi: 10.1016/j.ajhg.2020.12.002. Am J Hum Genet. 2021. PMID: 33417887 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. Neuromuscul Disord. 2024 Apr 5;39:19-23. doi: 10.1016/j.nmd.2024.04.001. Online ahead of print. Neuromuscul Disord. 2024. PMID: 38691940
Spatial Transcriptional Mapping Reveals Site-Specific Pathways Underlying Human Atherosclerotic Plaque Rupture.
Sun J, Singh P, Shami A, Kluza E, Pan M, Djordjevic D, Michaelsen NB, Kennbäck C, van der Wel NN, Orho-Melander M, Nilsson J, Formentini I, Conde-Knape K, Lutgens E, Edsfeldt A, Gonçalves I. Sun J, et al. Among authors: djordjevic d. J Am Coll Cardiol. 2023 Jun 13;81(23):2213-2227. doi: 10.1016/j.jacc.2023.04.008. J Am Coll Cardiol. 2023. PMID: 37286250
195 results