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373 results

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Page 1
Chromosome-length genome assemblies and cytogenomic analyses of pangolins reveal remarkable chromosome counts and plasticity.
Houck ML, Koepfli KP, Hains T, Khan R, Charter SJ, Fronczek JA, Misuraca AC, Kliver S, Perelman PL, Beklemisheva V, Graphodatsky A, Luo SJ, O'Brien SJ, Lim NT, Chin JSC, Guerra V, Tamazian G, Omer A, Weisz D, Kaemmerer K, Sturgeon G, Gaspard J, Hahn A, McDonough M, Garcia-Treviño I, Gentry J, Coke RL, Janecka JE, Harrigan RJ, Tinsman J, Smith TB, Aiden EL, Dudchenko O. Houck ML, et al. Among authors: smith tb. Chromosome Res. 2023 Apr 12;31(2):13. doi: 10.1007/s10577-023-09722-y. Chromosome Res. 2023. PMID: 37043058
A highly contiguous genome assembly for the Yellow Warbler (Setophaga petechia).
Tsai WLE, Escalona M, Garrett KL, Terrill RS, Sahasrabudhe R, Nguyen O, Beraut E, Seligmann W, Fairbairn CW, Harrigan RJ, McCormack JE, Alfaro ME, Smith TB, Bay RA. Tsai WLE, et al. Among authors: smith tb. J Hered. 2024 May 9;115(3):317-325. doi: 10.1093/jhered/esae008. J Hered. 2024. PMID: 38401156 Free PMC article.
Optimizing Health Care Resource Allocation, Workforce "Right-Sizing," and Stakeholder Collaboration.
Young MN, Asgar AW, Goldsweig AM, Hermiller JB, Khalique O, Manoukian SV, Rao SV, Smith TBBJ, Szerlip M, Kliger C; SCAI 2024 Think Tank Structural Consortium -; Canpa K, Church M, Deible R, Ferguson R, Haddad M, Maguire L, Nelson D, Shetler J, Sultana N. Young MN, et al. Among authors: smith tbbj. J Soc Cardiovasc Angiogr Interv. 2024 Dec 19;3(12):102397. doi: 10.1016/j.jscai.2024.102397. eCollection 2024 Dec. J Soc Cardiovasc Angiogr Interv. 2024. PMID: 39807239 Free PMC article. No abstract available.
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. Am J Hum Genet. 2025 Jan 2;112(1):59-74. doi: 10.1016/j.ajhg.2024.11.007. Epub 2024 Dec 18. Am J Hum Genet. 2025. PMID: 39701103 Free article.
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. Thomas HB, et al. Among authors: smith tb. medRxiv [Preprint]. 2024 Oct 11:2024.10.10.24315152. doi: 10.1101/2024.10.10.24315152. medRxiv. 2024. PMID: 39417135 Free PMC article. Preprint.
373 results