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Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.
Körner MB, Velluva A, Bundalian L, Radtke M, Lin CC, Zacher P, Bartolomaeus T, Kirstein AS, Mrestani A, Scholz N, Platzer K, Teichmann AC, Hentschel J, Langenhan T, Lemke JR, Garten A, Abou Jamra R, Le Duc D. Körner MB, et al. Among authors: bundalian l. Sci Rep. 2022 Aug 5;12(1):13507. doi: 10.1038/s41598-022-17604-2. Sci Rep. 2022. PMID: 35931711 Free PMC article.
The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology.
Bundalian L, Su YY, Chen S, Velluva A, Kirstein AS, Garten A, Biskup S, Battke F, Lal D, Heyne HO, Platzer K, Lin CC, Lemke JR, Le Duc D; Epi25 Collaborative. Bundalian L, et al. medRxiv [Preprint]. 2023 Mar 10:2023.01.17.23284702. doi: 10.1101/2023.01.17.23284702. medRxiv. 2023. PMID: 36974069 Free PMC article. Updated. Preprint.
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
Bergner CG, Breur M, Soto-Bernardini MC, Schäfer L, Lier J, Le Duc D, Bundalian L, Schubert S, Brenner D, Kreuz FR, Schulte B, Waisfisz Q, Bugiani M, Köhler W, Sticht H, Abou Jamra R, van der Knaap MS. Bergner CG, et al. Among authors: bundalian l. Brain. 2024 Mar 15:awae085. doi: 10.1093/brain/awae085. Online ahead of print. Brain. 2024. PMID: 38489591