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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 2 |
2023 | 4 |
2024 | 2 |
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7 results
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Page 1
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.
Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.
O'Neill MJ, Chen SN, Rumping L, Johnson R, van Slegtenhorst M, Glazer AM, Yang T, Solus JF, Laudeman J, Mitchell DW, Vanags LR, Kroncke BM, Anderson K, Gao S, Verdonschot JAJ, Brunner H, Hellebrekers D, Taylor MRG, Roden DM, Wessels MW, Lekanne Dit Deprez RH, Fatkin D, Mestroni L, Shoemaker MB.
O'Neill MJ, et al.
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.
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Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies.
O'Neill MJ, Wada Y, Hall LD, Mitchell DW, Glazer AM, Roden DM.
O'Neill MJ, et al.
Circ Genom Precis Med. 2022 Dec;15(6):e003782. doi: 10.1161/CIRCGEN.122.003782. Epub 2022 Oct 5.
Circ Genom Precis Med. 2022.
PMID: 36197721
Free PMC article.
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ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants.
O'Neill MJ, Yang T, Laudeman J, Calandranis M, Solus J, Roden DM, Glazer AM.
O'Neill MJ, et al.
medRxiv [Preprint]. 2023 Sep 8:2023.09.04.23295019. doi: 10.1101/2023.09.04.23295019.
medRxiv. 2023.
PMID: 37732247
Free PMC article.
Preprint.
Item in Clipboard
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
Ma JG, O'Neill MJ, Richardson E, Thomson KL, Ingles J, Muhammad A, Solus JF, Davogustto G, Anderson KC, Benjamin Shoemaker M, Stergachis AB, Floyd BJ, Dunn K, Parikh VN, Chubb H, Perrin MJ, Roden DM, Vandenberg JI, Ng CA, Glazer AM.
Ma JG, et al.
medRxiv [Preprint]. 2023 Dec 20:2023.12.19.23299592. doi: 10.1101/2023.12.19.23299592.
medRxiv. 2023.
PMID: 38196587
Free PMC article.
Preprint.
Item in Clipboard
Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an SCN5A negative charge: structural insights into the gating pore hypothesis.
Glazer AM, Yang T, Li B, Page D, Fouda M, Wada Y, Lancaster MC, O'Neill MJ, Muhammad A, Gao X, Ackerman MJ, Sanatani S, Ruben PC, Roden DM.
Glazer AM, et al.
bioRxiv [Preprint]. 2024 Feb 16:2024.02.13.580021. doi: 10.1101/2024.02.13.580021.
bioRxiv. 2024.
PMID: 38405820
Free PMC article.
Preprint.
Item in Clipboard
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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