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Page 1
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.
Nyaga DM, Tsai P, Gebbie C, Phua HH, Yap P, Le Quesne Stabej P, Farrow S, Rong J, Toldi G, Thorstensen E, Stark Z, Lunke S, Gamet K, Van Dyk J, Greenslade M, O'Sullivan JM. Nyaga DM, et al. Among authors: o sullivan jm. NPJ Genom Med. 2024 Nov 8;9(1):57. doi: 10.1038/s41525-024-00445-5. NPJ Genom Med. 2024. PMID: 39516456 Free PMC article.
Myocardial Posttranscriptional Landscape in Peripartum Cardiomyopathy.
Li A, Fang B, Li M, Koay YC, Malecki C, Hunter B, Harney D, Dos Remedios CG, Larance M, O'Sullivan JF, Lal S. Li A, et al. Among authors: o sullivan jf. Circ Heart Fail. 2024 Nov 8:e011725. doi: 10.1161/CIRCHEARTFAILURE.124.011725. Online ahead of print. Circ Heart Fail. 2024. PMID: 39513265 Free article.
Publisher Correction: A genome-wide association analysis reveals new pathogenic pathways in gout.
Major TJ, Takei R, Matsuo H, Leask MP, Sumpter NA, Topless RK, Shirai Y, Wang W, Cadzow MJ, Phipps-Green AJ, Li Z, Ji A, Merriman ME, Morice E, Kelley EE, Wei WH, McCormick SPA, Bixley MJ, Reynolds RJ, Saag KG, Fadason T, Golovina E, O'Sullivan JM, Stamp LK, Dalbeth N, Abhishek A, Doherty M, Roddy E, Jacobsson LTH, Kapetanovic MC, Melander O, Andrés M, Pérez-Ruiz F, Torres RJ, Radstake T, Jansen TL, Janssen M, Joosten LAB, Liu R, Gaal OI, Crişan TO, Rednic S, Kurreeman F, Huizinga TWJ, Toes R, Lioté F, Richette P, Bardin T, Ea HK, Pascart T, McCarthy GM, Helbert L, Stibůrková B, Tausche AK, Uhlig T, Vitart V, Boutin TS, Hayward C, Riches PL, Ralston SH, Campbell A, MacDonald TM; FAST Study Group; Nakayama A, Takada T, Nakatochi M, Shimizu S, Kawamura Y, Toyoda Y, Nakaoka H, Yamamoto K, Matsuo K, Shinomiya N, Ichida K; Japan Gout Genomics Consortium; Lee C; Asia Pacific Gout Consortium; Bradbury LA, Brown MA, Robinson PC, Buchanan RRC, Hill CL, Lester S, Smith MD, Rischmueller M, Choi HK, Stahl EA, Miner JN, Solomon DH, Cui J, Giacomini KM, Brackman DJ, Jorgenson EM; GlobalGout Genetics Consortium; Liu H, Susztak K; 23andMe Research Team; Shringarpure S, So A, Okada Y, Li C,… See abstract for full author list ➔ Major TJ, et al. Among authors: o sullivan jm. Nat Genet. 2024 Nov;56(11):2577. doi: 10.1038/s41588-024-02017-w. Nat Genet. 2024. PMID: 39501129 No abstract available.
Pre-Emptive Pharmacogenetic Testing in the Acute Hospital Setting: A Cross-Sectional Study.
McDermott JH, Burke K, Fullerton N, O'Sullivan J, Alex A, Ingham A, Sharma V, Godfrey N, Odudu A, Syed T, Stevens A, Beynon R, Greaves N, Akam D, Mirza S, Wilson P, Wright S, Payne K, Newman WG. McDermott JH, et al. Among authors: o sullivan j. QJM. 2024 Oct 17:hcae200. doi: 10.1093/qjmed/hcae200. Online ahead of print. QJM. 2024. PMID: 39418209
A genome-wide association analysis reveals new pathogenic pathways in gout.
Major TJ, Takei R, Matsuo H, Leask MP, Sumpter NA, Topless RK, Shirai Y, Wang W, Cadzow MJ, Phipps-Green AJ, Li Z, Ji A, Merriman ME, Morice E, Kelley EE, Wei WH, McCormick SPA, Bixley MJ, Reynolds RJ, Saag KG, Fadason T, Golovina E, O'Sullivan JM, Stamp LK, Dalbeth N, Abhishek A, Doherty M, Roddy E, Jacobsson LTH, Kapetanovic MC, Melander O, Andrés M, Pérez-Ruiz F, Torres RJ, Radstake T, Jansen TL, Janssen M, Joosten LAB, Liu R, Gaal OI, Crişan TO, Rednic S, Kurreeman F, Huizinga TWJ, Toes R, Lioté F, Richette P, Bardin T, Ea HK, Pascart T, McCarthy GM, Helbert L, Stibůrková B, Tausche AK, Uhlig T, Vitart V, Boutin TS, Hayward C, Riches PL, Ralston SH, Campbell A, MacDonald TM; FAST Study Group; Nakayama A, Takada T, Nakatochi M, Shimizu S, Kawamura Y, Toyoda Y, Nakaoka H, Yamamoto K, Matsuo K, Shinomiya N, Ichida K; Japan Gout Genomics Consortium; Lee C; Asia Pacific Gout Consortium; Bradbury LA, Brown MA, Robinson PC, Buchanan RRC, Hill CL, Lester S, Smith MD, Rischmueller M, Choi HK, Stahl EA, Miner JN, Solomon DH, Cui J, Giacomini KM, Brackman DJ, Jorgenson EM; GlobalGout Genetics Consortium; Liu H, Susztak K; 23andMe Research Team; Shringarpure S, So A, Okada Y, Li C,… See abstract for full author list ➔ Major TJ, et al. Among authors: o sullivan jm. Nat Genet. 2024 Nov;56(11):2392-2406. doi: 10.1038/s41588-024-01921-5. Epub 2024 Oct 15. Nat Genet. 2024. PMID: 39406924
Management of Patients with Advanced Prostate Cancer. Report from the 2024 Advanced Prostate Cancer Consensus Conference (APCCC).
Gillessen S, Turco F, Davis ID, Efstathiou JA, Fizazi K, James ND, Shore N, Small E, Smith M, Sweeney CJ, Tombal B, Zilli T, Agarwal N, Antonarakis ES, Aparicio A, Armstrong AJ, Bastos DA, Attard G, Axcrona K, Ayadi M, Beltran H, Bjartell A, Blanchard P, Bourlon MT, Briganti A, Bulbul M, Buttigliero C, Caffo O, Castellano D, Castro E, Cheng HH, Chi KN, Clarke CS, Clarke N, de Bono JS, De Santis M, Duran I, Efstathiou E, Ekeke ON, El Nahas TIH, Emmett L, Fanti S, Fatiregun OA, Feng FY, Fong PCC, Fonteyne V, Fossati N, George DJ, Gleave ME, Gravis G, Halabi S, Heinrich D, Herrmann K, Hofman MS, Hope TA, Horvath LG, Hussain MHA, Jereczek-Fossa BA, Jones RJ, Joshua AM, Kanesvaran R, Keizman D, Khauli RB, Kramer G, Loeb S, Mahal BA, Maluf FC, Mateo J, Matheson D, Matikainen MP, McDermott R, McKay RR, Mehra N, Merseburger AS, Morgans AK, Morris MJ, Mrabti H, Mukherji D, Murphy DG, Murthy V, Mutambirwa SBA, Nguyen PL, Oh WK, Ost P, O'Sullivan JM, Padhani AR, Parker C, Poon DMC, Pritchard CC, Rabah DM, Rathkopf D, Reiter RE, Renard-Penna R, Ryan CJ, Saad F, Sade JP, Sandhu S, Sartor OA, Schaeffer E, Scher HI, Sharifi N, Skoneczna IA, Soule HR, Spratt DE, Srinivas S, Sternberg CN, S… See abstract for full author list ➔ Gillessen S, et al. Among authors: o sullivan jm. Eur Urol. 2024 Oct 10:S0302-2838(24)02610-1. doi: 10.1016/j.eururo.2024.09.017. Online ahead of print. Eur Urol. 2024. PMID: 39394013 Free article.
A proinflammatory stem cell niche drives myelofibrosis through a targetable galectin-1 axis.
Li R, Colombo M, Wang G, Rodriguez-Romera A, Benlabiod C, Jooss NJ, O'Sullivan J, Brierley CK, Clark SA, Pérez Sáez JM, Fernández PA, Schoof EM, Porse B, Meng Y, Khan AO, Wen S, Dong P, Zhou W, Sousos N, Murphy L, Clarke M, Olijnik AA, Wong ZC, Karali CS, Sirinukunwattana K, Ryou H, Norfo R, Cheng Q, Carrelha J, Ren Z, Thongjuea S, Rathinam VA, Krishnan A, Royston D, Rabinovich GA, Mead AJ, Psaila B. Li R, et al. Among authors: o sullivan j. Sci Transl Med. 2024 Oct 9;16(768):eadj7552. doi: 10.1126/scitranslmed.adj7552. Epub 2024 Oct 9. Sci Transl Med. 2024. PMID: 39383242 Free PMC article.
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O' Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: o sullivan j. medRxiv [Preprint]. 2024 Aug 21:2024.08.19.24312079. doi: 10.1101/2024.08.19.24312079. medRxiv. 2024. PMID: 39371131 Free PMC article. Preprint.
1,861 results