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Advancing genetic testing for deafness with genomic technology.
Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ. Shearer AE, et al. Among authors: joshi s. J Med Genet. 2013 Sep;50(9):627-34. doi: 10.1136/jmedgenet-2013-101749. Epub 2013 Jun 26. J Med Genet. 2013. PMID: 23804846 Free PMC article.
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Shearer AE, et al. Among authors: joshi s. Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25. Am J Hum Genet. 2014. PMID: 25262649 Free PMC article.
Prevalence of traditional cardiovascular risk factors in high-risk Kyrgyzstan population as compared to Indians - An Indo-Kyrgyz cardiometabolic study.
Sharma K, Mohan S, Hossain SA, Shah S, Konat A, Shah K, Mehta S, Tavethia JJ, Sarvaiya JN, Joshi S, Shah K, Patel DR, Patel S. Sharma K, et al. Among authors: joshi s. J Family Med Prim Care. 2024 Dec;13(12):5621-5625. doi: 10.4103/jfmpc.jfmpc_712_24. Epub 2024 Dec 9. J Family Med Prim Care. 2024. PMID: 39790788 Free PMC article.
AI as an intervention: improving clinical outcomes relies on a causal approach to AI development and validation.
Joshi S, Urteaga I, van Amsterdam WAC, Hripcsak G, Elias P, Recht B, Elhadad N, Fackler J, Sendak MP, Wiens J, Deshpande K, Wald Y, Fiterau M, Lipton Z, Malinsky D, Nayan M, Namkoong H, Park S, Vogt JE, Ranganath R. Joshi S, et al. J Am Med Inform Assoc. 2025 Jan 7:ocae301. doi: 10.1093/jamia/ocae301. Online ahead of print. J Am Med Inform Assoc. 2025. PMID: 39775871
Myocardial Fibroblast Activation After Acute Myocardial Infarction: A Positron Emission Tomography and Magnetic Resonance Study.
Barton AK, Craig NJ, Loganath K, Joshi S, Tsampasian V, Mahendran M, Lenell J, Tzolos E, Singh T, Whittington B, Nash J, Williams MC, van Beek EJR, MacAskill MG, Berkeley B, Vezaides S, Brittan M, Baker AH, Sellers S, Fletcher A, Clark T, Waight C, Slart RHJA, Berman D, Dey D, Slomka P, Newby DE, Dweck MR. Barton AK, et al. Among authors: joshi s. J Am Coll Cardiol. 2024 Nov 26:S0735-1097(24)10315-4. doi: 10.1016/j.jacc.2024.10.103. Online ahead of print. J Am Coll Cardiol. 2024. PMID: 39772364
CANAIRI: the Collaboration for Translational Artificial Intelligence Trials in healthcare.
McCradden MD, London AJ, Gichoya JW, Sendak M, Erdman L, Stedman I, Oakden-Rayner L, Akrout I, Anderson JA, Farmer LA, Greer R, Goldenberg A, Ho Y, Joshi S, Louise J, Mamdani M, Mazwi ML, Mohamud A, Palmer LJ, Peperidis A, Pfohl SR, Rickard M, Semmler C, Singh K, Singh D, Soremekun S, Tikhomirov L, van der Vegt AH, Verspoor K, Liu X. McCradden MD, et al. Among authors: joshi s. Nat Med. 2025 Jan 6. doi: 10.1038/s41591-024-03364-1. Online ahead of print. Nat Med. 2025. PMID: 39762426 No abstract available.
5,379 results