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Accurate whole human genome sequencing using reversible terminator chemistry.
Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP, Evers DJ, Barnes CL, Bignell HR, Boutell JM, Bryant J, Carter RJ, Keira Cheetham R, Cox AJ, Ellis DJ, Flatbush MR, Gormley NA, Humphray SJ, Irving LJ, Karbelashvili MS, Kirk SM, Li H, Liu X, Maisinger KS, Murray LJ, Obradovic B, Ost T, Parkinson ML, Pratt MR, Rasolonjatovo IM, Reed MT, Rigatti R, Rodighiero C, Ross MT, Sabot A, Sankar SV, Scally A, Schroth GP, Smith ME, Smith VP, Spiridou A, Torrance PE, Tzonev SS, Vermaas EH, Walter K, Wu X, Zhang L, Alam MD, Anastasi C, Aniebo IC, Bailey DM, Bancarz IR, Banerjee S, Barbour SG, Baybayan PA, Benoit VA, Benson KF, Bevis C, Black PJ, Boodhun A, Brennan JS, Bridgham JA, Brown RC, Brown AA, Buermann DH, Bundu AA, Burrows JC, Carter NP, Castillo N, Chiara E Catenazzi M, Chang S, Neil Cooley R, Crake NR, Dada OO, Diakoumakos KD, Dominguez-Fernandez B, Earnshaw DJ, Egbujor UC, Elmore DW, Etchin SS, Ewan MR, Fedurco M, Fraser LJ, Fuentes Fajardo KV, Scott Furey W, George D, Gietzen KJ, Goddard CP, Golda GS, Granieri PA, Green DE, Gustafson DL, Hansen NF, Harnish K, Haudenschild CD, Heyer NI, Hims MM, Ho JT, Horgan AM, Hoschler K, Hurwitz S, Ivanov DV, Johns… See abstract for full author list ➔ Bentley DR, et al. Nature. 2008 Nov 6;456(7218):53-9. doi: 10.1038/nature07517. Nature. 2008. PMID: 18987734 Free PMC article.
H19 in the pouch.
Bartolomei MS, Vigneau S, O'Neill MJ. Bartolomei MS, et al. Nat Genet. 2008 Aug;40(8):932-3. doi: 10.1038/ng0808-932. Nat Genet. 2008. PMID: 18665128 No abstract available.
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. Among authors: o neill mj. bioRxiv [Preprint]. 2024 Feb 16:2024.02.13.580021. doi: 10.1101/2024.02.13.580021. bioRxiv. 2024. PMID: 38405820 Free PMC article. Preprint.
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.
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. Among authors: o neill mj. medRxiv [Preprint]. 2023 Dec 20:2023.12.19.23299592. doi: 10.1101/2023.12.19.23299592. medRxiv. 2023. PMID: 38196587 Free PMC article. Preprint.
Tau seed amplification assay reveals relationship between seeding and pathological forms of tau in Alzheimer's disease brain.
Frey B, Holzinger D, Taylor K, Ehrnhoefer DE, Striebinger A, Biesinger S, Gasparini L, O'Neill MJ, Wegner F, Barghorn S, Höglinger GU, Heym RG. Frey B, et al. Among authors: o neill mj. Acta Neuropathol Commun. 2023 Nov 14;11(1):181. doi: 10.1186/s40478-023-01676-w. Acta Neuropathol Commun. 2023. PMID: 37964332 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.
Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.
O'Neill MJ, Sala L, Denjoy I, Wada Y, Kozek K, Crotti L, Dagradi F, Kotta MC, Spazzolini C, Leenhardt A, Salem JE, Kashiwa A, Ohno S, Tao R, Roden DM, Horie M, Extramiana F, Schwartz PJ, Kroncke BM. O'Neill MJ, et al. 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.
273 results