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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. Among authors: li b. 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.
Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.
Li B, Mendenhall JL, Kroncke BM, Taylor KC, Huang H, Smith DK, Vanoye CG, Blume JD, George AL Jr, Sanders CR, Meiler J. Li B, et al. Circ Cardiovasc Genet. 2017 Oct;10(5):e001754. doi: 10.1161/CIRCGENETICS.117.001754. Circ Cardiovasc Genet. 2017. PMID: 29021305 Free PMC article.
High-Throughput Reclassification of SCN5A Variants.
Glazer AM, Wada Y, Li B, Muhammad A, Kalash OR, O'Neill MJ, Shields T, Hall L, Short L, Blair MA, Kroncke BM, Capra JA, Roden DM. Glazer AM, et al. Among authors: li b. Am J Hum Genet. 2020 Jul 2;107(1):111-123. doi: 10.1016/j.ajhg.2020.05.015. Epub 2020 Jun 12. Am J Hum Genet. 2020. PMID: 32533946 Free PMC article.
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