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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: battke f. 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.
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, Lemke JR. Heyne HO, et al. Among authors: battke f. Genet Med. 2019 Nov;21(11):2496-2503. doi: 10.1038/s41436-019-0531-0. Epub 2019 May 6. Genet Med. 2019. PMID: 31056551 Free article.
The question of WGS's clinical utility remains unanswered.
Battke F, Schulte B, Schulze M, Biskup S. Battke F, et al. Eur J Hum Genet. 2021 May;29(5):722-723. doi: 10.1038/s41431-021-00823-y. Epub 2021 Feb 17. Eur J Hum Genet. 2021. PMID: 33597733 Free PMC article. No abstract available.
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: battke f. 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.
50 results