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Year | Number of Results |
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2022 | 3 |
2023 | 1 |
2024 | 1 |
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Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.
Genet Med. 2023 Mar;25(3):100355. doi: 10.1016/j.gim.2022.12.002. Epub 2022 Dec 7.
Genet Med. 2023.
PMID: 36496179
Free PMC article.
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome.
Jiang C, Richardson E, Farr J, Hill AP, Ullah R, Kroncke BM, Harrison SM, Thomson KL, Ingles J, Vandenberg JI, Ng CA.
Jiang C, et al.
Am J Hum Genet. 2022 Jul 7;109(7):1199-1207. doi: 10.1016/j.ajhg.2022.05.002. Epub 2022 Jun 9.
Am J Hum Genet. 2022.
PMID: 35688147
Free PMC article.
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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.
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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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.
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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