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Page 1
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
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. Among authors: lin cc. Am J Hum Genet. 2023 Jul 6;110(7):1110-1122. doi: 10.1016/j.ajhg.2023.06.004. Epub 2023 Jun 26. Am J Hum Genet. 2023. PMID: 37369202 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. Among authors: lin cc. 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.
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: lin cc. Sci Rep. 2022 Aug 5;12(1):13507. doi: 10.1038/s41598-022-17604-2. Sci Rep. 2022. PMID: 35931711 Free PMC article.
51 results