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Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.
Heart Rhythm. 2023 Aug;20(8):1158-1166. doi: 10.1016/j.hrthm.2023.05.006. Epub 2023 May 9.
Heart Rhythm. 2023.
PMID: 37164047
Free PMC article.
A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2.
Ng CA, Ullah R, Farr J, Hill AP, Kozek KA, Vanags LR, Mitchell DW, Kroncke BM, Vandenberg JI.
Ng CA, et al. Among authors: vanags lr.
Am J Hum Genet. 2022 Jul 7;109(7):1208-1216. doi: 10.1016/j.ajhg.2022.05.003. Epub 2022 Jun 9.
Am J Hum Genet. 2022.
PMID: 35688148
Free PMC article.
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High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1.
Kozek KA, Glazer AM, Ng CA, Blackwell D, Egly CL, Vanags LR, Blair M, Mitchell D, Matreyek KA, Fowler DM, Knollmann BC, Vandenberg JI, Roden DM, Kroncke BM.
Kozek KA, et al. Among authors: vanags lr.
Heart Rhythm. 2020 Dec;17(12):2180-2189. doi: 10.1016/j.hrthm.2020.05.041. Epub 2020 Jun 6.
Heart Rhythm. 2020.
PMID: 32522694
Free PMC article.
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Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification.
O'Neill MJ, Ng CA, Aizawa T, Sala L, Bains S, Denjoy I, Winbo A, Ullah R, Shen Q, Tan CY, Kozek K, Vanags LR, Mitchell DW, Shen A, Wada Y, Kashiwa A, Crotti L, Dagradi F, Musu G, Spazzolini C, Neves R, Bos JM, Giudicessi JR, Bledsoe X, Lancaster M, Glazer AM, Roden DM, Leenhardt A, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner J, Extramiana F, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM.
O'Neill MJ, et al. Among authors: vanags lr.
medRxiv [Preprint]. 2024 Feb 5:2024.02.01.24301443. doi: 10.1101/2024.02.01.24301443.
medRxiv. 2024.
PMID: 38370760
Free PMC article.
Preprint.
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