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460 results

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CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).
Aspromonte MC, Del Conte A, Zhu S, Tan W, Shen Y, Zhang Y, Li Q, Wang MH, Babbi G, Bovo S, Martelli PL, Casadio R, Althagafi A, Toonsi S, Kulmanov M, Hoehndorf R, Katsonis P, Williams A, Lichtarge O, Xian S, Surento W, Pejaver V, Mooney SD, Sunderam U, Srinivasan R, Murgia A, Piovesan D, Tosatto SCE, Leonardi E. Aspromonte MC, et al. Among authors: martelli pl. Hum Genet. 2025 Jan 9. doi: 10.1007/s00439-024-02722-w. Online ahead of print. Hum Genet. 2025. PMID: 39786577
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges.
Turina P, Dal Cortivo G, Enriquez Sandoval CA, Alexov E, Ascher DB, Babbi G, Bakolitsa C, Casadio R, Fariselli P, Folkman L, Kamandula A, Katsonis P, Li D, Lichtarge O, Martelli PL, Panday SK, Pires DEV, Portelli S, Pucci F, Rodrigues CHM, Rooman M, Savojardo C, Schwersensky M, Shen Y, Strokach AV, Sun Y, Woo J, Radivojac P, Brenner SE, Dell'Orco D, Capriotti E. Turina P, et al. Among authors: martelli pl. Hum Genet. 2024 Dec 23. doi: 10.1007/s00439-024-02720-y. Online ahead of print. Hum Genet. 2024. PMID: 39714488
Serological evidence of sarbecovirus exposure along Sunda pangolin trafficking pathways.
Worthington BM, Wong PY, Kumaree KK, Prigge TL, Ng KH, Liao Y, Martelli P, Churgin S, Lee FK, Perkins C, Bradley M, Pierce MP, Shum MH, Miot EF, Cheung WY, McIlroy SE, Nash HC, Wirdateti, Semiadi G, Tan CW, Wang LF, Ades G, Baker DM, Dingle C, Pybus OG, Holmes EC, Leung GM, Guan Y, Zhu H, Bonebrake TC, Lam TTY. Worthington BM, et al. Among authors: martelli p. BMC Biol. 2024 Nov 26;22(1):274. doi: 10.1186/s12915-024-02074-x. BMC Biol. 2024. PMID: 39593133 Free PMC article.
Rosette-forming multicentric B-cell lymphoma in a giant panda.
Tse ACN, Brackman CJ, Yuen CPM, Perkins CM, Martelli P, Tse MPY. Tse ACN, et al. Among authors: martelli p. J Vet Diagn Invest. 2024 Nov;36(6):945-948. doi: 10.1177/10406387241267887. Epub 2024 Sep 6. J Vet Diagn Invest. 2024. PMID: 39243117
460 results