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Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants.
Mukherjee S, Cassini TA, Hu N, Yang T, Li B, Shen W, Moth CW, Rinker DC, Sheehan JH, Cogan JD; Undiagnosed Diseases Network; Newman JH, Hamid R, Macdonald RL, Roden DM, Meiler J, Kuenze G, Phillips JA, Capra JA. Mukherjee S, et al. HGG Adv. 2022 Jul 19;3(4):100131. doi: 10.1016/j.xhgg.2022.100131. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 36035247 Free PMC article.
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.
Jin B, Capra JA, Benchek P, Wheeler N, Naj AC, Hamilton-Nelson KL, Farrell JJ, Leung YY, Kunkle B, Vadarajan B, Schellenberg GD, Mayeux R, Wang LS, Farrer LA, Pericak-Vance MA, Martin ER, Haines JL, Crawford DC, Bush WS. Jin B, et al. Genome Res. 2022 Apr;32(4):778-790. doi: 10.1101/gr.276069.121. Epub 2022 Feb 24. Genome Res. 2022. PMID: 35210353 Free PMC article.