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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL, O'Leary MC, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson MW, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: floris m. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
[Classification and Management of MGRS Related Diseases].
Angioi A, Lepori N, Derudas D, Floris M, Mascia G, Cabiddu G, Pani A. Angioi A, et al. Among authors: floris m. G Ital Nefrol. 2023 Oct 3;40(Suppl 81):2023-S81. G Ital Nefrol. 2023. PMID: 38007837 Review. Italian.
[Transplant Candidate with Cancer: Should We Proceed?].
Mascia G, Floris M, Angioi A, Argiolas D, Lepori N, Cabiddu G, Pani A. Mascia G, et al. Among authors: floris m. G Ital Nefrol. 2023 Oct 3;40(Suppl 81):2023-S81. G Ital Nefrol. 2023. PMID: 38007833 Review. Italian.
229 results