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Page 1
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered 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: williams sg. Am J Hum Genet. 2024 Dec 14:S0002-9297(24)00416-6. doi: 10.1016/j.ajhg.2024.11.007. Online ahead of print. Am J Hum Genet. 2024. PMID: 39701103 Free 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: williams sg. medRxiv [Preprint]. 2024 Aug 21:2024.08.19.24312079. doi: 10.1101/2024.08.19.24312079. medRxiv. 2024. Update in: Am J Hum Genet. 2024 Dec 14:S0002-9297(24)00416-6. doi: 10.1016/j.ajhg.2024.11.007 PMID: 39371131 Free PMC article. Updated. Preprint.
Large left ventricular thrombus in a heavily trabeculated left ventricle.
Lamprou V, Williams SG, Alamgir R, Callan P. Lamprou V, et al. Among authors: williams sg. Oxf Med Case Reports. 2024 Aug 19;2024(8):omae087. doi: 10.1093/omcr/omae087. eCollection 2024 Aug. Oxf Med Case Reports. 2024. PMID: 39161848 Free PMC article. No abstract available.
Administration of ferric derisomaltose for iron deficiency and heart failure during hospital admission or at the clinic - insights from the IRONMAN trial.
Lee MMY, Petrie MC, Cleland JGF, Donnelly P, Francis M, Hannah A, Japp AG, Labinjoh C, Lang NN, Manisty C, Petrie CJ, Piper SE, Williams SG, Ford I, Kalra PR;  on behalf of the IRONMAN Trial Investigators. Lee MMY, et al. Among authors: williams sg. Eur J Heart Fail. 2024 Oct;26(10):2293-2295. doi: 10.1002/ejhf.3394. Epub 2024 Jul 30. Eur J Heart Fail. 2024. PMID: 39078467 No abstract available.
Remote myocardial fibrosis predicts adverse outcome in patients with myocardial infarction on clinical cardiovascular magnetic resonance imaging.
Black N, Bradley J, Schelbert EB, Bonnett LJ, Lewis GA, Lagan J, Orsborne C, Brown PF, Soltani F, Fröjdh F, Ugander M, Wong TC, Fukui M, Cavalcante JL, Naish JH, Williams SG, McDonagh T, Schmitt M, Miller CA. Black N, et al. Among authors: williams sg. J Cardiovasc Magn Reson. 2024 Winter;26(2):101064. doi: 10.1016/j.jocmr.2024.101064. Epub 2024 Jul 23. J Cardiovasc Magn Reson. 2024. PMID: 39053856 Free PMC article.
Phenogrouping heart failure with preserved or mildly reduced ejection fraction using electronic health record data.
Soltani F, Jenkins DA, Kaura A, Bradley J, Black N, Farrant JP, Williams SG, Mulla A, Glampson B, Davies J, Papadimitriou D, Woods K, Shah AD, Thursz MR, Williams B, Asselbergs FW, Mayer EK, Herbert C, Grant S, Curzen N, Squire I, Johnson T, O'Gallagher K, Shah AM, Perera D, Kharbanda R, Patel RS, Channon KM, Lee R, Peek N, Mayet J, Miller CA. Soltani F, et al. Among authors: williams sg. BMC Cardiovasc Disord. 2024 Jul 5;24(1):343. doi: 10.1186/s12872-024-03987-9. BMC Cardiovasc Disord. 2024. PMID: 38969974 Free PMC article.
Corrigendum to "Androgen Deprivation and Radiotherapy with or Without Docetaxel for Localized High-risk Prostat Cancer: Long-term Follow-up from the Randomized NRG Oncology RTOG 0521 Trial" [Eur. Eurol. 84(2) (2023) 156-163].
Sartor O, Karrison TG, Sandler HM, Gomella LG, Amin M, Purdy J, Michalski JM, Garzotto MG, Pervez N, Balogh AG, Rodrigues GB, Souhami L, Neil Reaume M, Williams SG, Hannan R, Jones CU, Horwitz EM, Rodgers JP, Feng FY, Rosenthal SA. Sartor O, et al. Among authors: williams sg. Eur Urol. 2024 Sep;86(3):289-290. doi: 10.1016/j.eururo.2024.06.009. Epub 2024 Jun 18. Eur Urol. 2024. PMID: 38897867 Free article.
420 results