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Fuelling our passions with the Health Hackathon.
Hussain T, Polwaththa Gallage Y, Shah S. Hussain T, et al. Among authors: shah s. BMJ Paediatr Open. 2025 Jan 14;9(1):e003270. doi: 10.1136/bmjpo-2024-003270. BMJ Paediatr Open. 2025. PMID: 39809500 No abstract available.
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett DK, Barnes K, Bis JC, Blackwell T, Becker LC, Boerwinkle E, Bowler RP, Budoff MJ, Carson AP, Chen J, Cho MH, Coresh J, Cox NJ, de Vries PS, DeMeo DL, Fardo DW, Fornage M, Guo X, Hall ME, Heard-Costa N, Hidalgo B, Irvin MR, Johnson AD, Jorgenson E, Kenny EE, Kessler MD, Levy D, Li Y, Lima JAC, Liu Y, Locke AE, Loos RJF, Machiela MJ, Mathias RA, Mitchell BD, Murabito JM, Mychaleckyj JC, North KE, Orchard P, Parker SCJ, Pershad Y, Peyser PA, Pratte KA, Psaty BM, Raffield LM, Redline S; Regeneron Genetics Center; Rich SS, Rotter JI, Shah SJ, Smith JA, Smith AP, Smith A, Taub MA, Tiwari HK, Tracy R, Tuftin B; NHLBI Trans-Omics for Precision Medicine Consortium; Bick AG, Sankaran VG, Reiner AP, Scheet P, Auer PL. Jakubek YA, et al. Among authors: shah sj. Am J Hum Genet. 2025 Jan 6:S0002-9297(24)00456-7. doi: 10.1016/j.ajhg.2024.12.014. Online ahead of print. Am J Hum Genet. 2025. PMID: 39809269
Loss of Kmt2c or Kmt2d primes urothelium for tumorigenesis and redistributes KMT2A-menin to bivalent promoters.
Wang N, Pachai MR, Li D, Lee CJ, Warda S, Khudoynazarova MN, Cho WH, Xie G, Shah SR, Yao L, Qian C, Wong EWP, Yan J, Tomas FV, Hu W, Kuo F, Gao SP, Luo J, Smith AE, Han M, Gao D, Ge K, Yu H, Chandarlapaty S, Iyer GV, Rosenberg JE, Solit DB, Al-Ahmadie HA, Chi P, Chen Y. Wang N, et al. Among authors: shah sr. Nat Genet. 2025 Jan 13. doi: 10.1038/s41588-024-02015-y. Online ahead of print. Nat Genet. 2025. PMID: 39806204
Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy: A Randomized Clinical Trial With Open-Label Extension.
Adams D, Wixner J, Polydefkis M, Berk JL, Conceição IM, Dispenzieri A, Peltier A, Ueda M, Bender S, Capocelli K, Jay PY, Yureneva E, Obici L; patisiran Global OLE study group. Adams D, et al. JAMA Neurol. 2025 Jan 13. doi: 10.1001/jamaneurol.2024.4631. Online ahead of print. JAMA Neurol. 2025. PMID: 39804640
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