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Page 1
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.
Accurate structure prediction of biomolecular interactions with AlphaFold 3.
Abramson J, Adler J, Dunger J, Evans R, Green T, Pritzel A, Ronneberger O, Willmore L, Ballard AJ, Bambrick J, Bodenstein SW, Evans DA, Hung CC, O'Neill M, Reiman D, Tunyasuvunakool K, Wu Z, Žemgulytė A, Arvaniti E, Beattie C, Bertolli O, Bridgland A, Cherepanov A, Congreve M, Cowen-Rivers AI, Cowie A, Figurnov M, Fuchs FB, Gladman H, Jain R, Khan YA, Low CMR, Perlin K, Potapenko A, Savy P, Singh S, Stecula A, Thillaisundaram A, Tong C, Yakneen S, Zhong ED, Zielinski M, Žídek A, Bapst V, Kohli P, Jaderberg M, Hassabis D, Jumper JM. Abramson J, et al. Nature. 2024 Jun;630(8016):493-500. doi: 10.1038/s41586-024-07487-w. Epub 2024 May 8. Nature. 2024. PMID: 38718835 Free PMC article.
Addendum: Accurate structure prediction of biomolecular interactions with AlphaFold 3.
Abramson J, Adler J, Dunger J, Evans R, Green T, Pritzel A, Ronneberger O, Willmore L, Ballard AJ, Bambrick J, Bodenstein SW, Evans DA, Hung CC, O'Neill M, Reiman D, Tunyasuvunakool K, Wu Z, Žemgulytė A, Arvaniti E, Beattie C, Bertolli O, Bridgland A, Cherepanov A, Congreve M, Cowen-Rivers AI, Cowie A, Figurnov M, Fuchs FB, Gladman H, Jain R, Khan YA, Low CMR, Perlin K, Potapenko A, Savy P, Singh S, Stecula A, Thillaisundaram A, Tong C, Yakneen S, Zhong ED, Zielinski M, Žídek A, Bapst V, Kohli P, Jaderberg M, Hassabis D, Jumper JM. Abramson J, et al. Nature. 2024 Dec;636(8042):E4. doi: 10.1038/s41586-024-08416-7. Nature. 2024. PMID: 39604737 Free PMC article. No abstract available.
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.
Clinical Characteristics and Outcomes in Patients With Atrial Fibrillation and Pathogenic TTN Variants.
Virk ZM, El-Harasis MA, Yoneda ZT, Anderson KC, Sun L, Quintana JA, Murphy BS, Laws JL, Davogustto GE, O'Neill MJ, Varghese BT, Crawford DM, Williams HL, Shabani M, Pelphrey CJ, Grauherr DD, Tomasek K, Su YR, Lancaster MC, Wells QS, Dendy JM, Saavedra P, Estrada JC, Richardson TD, Shen ST, Kanagasundram AN, Montgomery JA, Ellis CR, Crossley GH, Tandri H, Kannankeril PJ, Lubitz SA, Stevenson WG, Ye F, Ellinor PT, Stevenson LW, Roden DM, Shoemaker MB. Virk ZM, et al. Among authors: o neill mj. JACC Clin Electrophysiol. 2024 Nov;10(11):2445-2457. doi: 10.1016/j.jacep.2024.07.029. Epub 2024 Oct 23. JACC Clin Electrophysiol. 2024. PMID: 39453294 Free article.
Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ, Ng CA, Aizawa T, Sala L, Bains S, 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, Gamazon ER, Lancaster MC, Glazer AM, Knollmann BC, Roden DM, Weile J, Roth F, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner JR, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM. O'Neill MJ, et al. Circulation. 2024 Dec 3;150(23):1869-1881. doi: 10.1161/CIRCULATIONAHA.124.069828. Epub 2024 Sep 24. Circulation. 2024. PMID: 39315434
Ablation for Atrial Fibrillation in Patients With Rare Pathogenic Variants in Cardiomyopathy and Arrhythmia Genes.
El-Harasis MA, Yoneda ZT, Anderson KC, Ye F, Quintana JA, Martinez-Parachini JR, Jackson GG, Varghese BT, Crawford DM, Sun L, Williams HL, O'Neill MJ, Davogustto GE, Laws JL, Murphy BS, Tomasek K, Su YR, McQuillen E, Metz E, Smith C, Stubbs D, Grauherr DD, Wells QS, Michaud GF, Saavedra P, Carlos Estrada J, Richardson TD, Shen ST, Kanagasundram AN, Montgomery JA, Tandri H, Ellis CR, Crossley GH, Kannankeril PJ, Stevenson LW, Stevenson WG, Lubitz SA, Ellinor PT, Roden DM, Shoemaker MB. El-Harasis MA, et al. Among authors: o neill mj. JACC Clin Electrophysiol. 2024 Nov;10(11):2359-2370. doi: 10.1016/j.jacep.2024.06.035. Epub 2024 Sep 4. JACC Clin Electrophysiol. 2024. PMID: 39243256 Free article.
Correction: 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. 2024 Jul 15;12(1):115. doi: 10.1186/s40478-024-01825-9. Acta Neuropathol Commun. 2024. PMID: 39004770 Free PMC article. No abstract available.
Multisite 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, Shoemaker MB, 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. Circ Genom Precis Med. 2024 Aug;17(4):e004569. doi: 10.1161/CIRCGEN.124.004569. Epub 2024 Jul 2. Circ Genom Precis Med. 2024. PMID: 38953211 Free article.
279 results