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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL, O'Leary M, 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 M, 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: de paoli f. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293212. doi: 10.1101/2023.08.02.23293212. medRxiv. 2023. PMID: 37577678 Free PMC article. Preprint.
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: de paoli f. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
Molecular characterization of diffuse large B-cell lymphomas associated with hepatitis C virus infection.
Sciarra R, Merli M, Cristinelli C, Lucioni M, Zibellini S, Riboni R, Furlan D, Uccella S, Zerbi C, Bianchi B, Gotti M, Ferretti VV, Varraso C, Fraticelli S, Lazic T, Defrancesco I, Mora B, Libera L, Mazzacane A, Carpi F, Berliner M, Neri G, Rizzo E, De Paoli F, Sessa F, Passamonti F, Paulli M, Arcaini L. Sciarra R, et al. Among authors: de paoli f. Br J Haematol. 2024 Mar 5. doi: 10.1111/bjh.19378. Online ahead of print. Br J Haematol. 2024. PMID: 38442902
Six weeks of high-load resistance and low-load blood flow restricted training increase Na/K-ATPase sub-units α2 and β1 equally, but does not alter ClC-1 abundance in untrained human skeletal muscle.
Wang J, Rindom E, Groennebaek T, Sieljacks P, Jakobsgaard JE, Farup J, Vissing K, Pedersen TH, de Paoli FV. Wang J, et al. Among authors: de paoli fv. J Muscle Res Cell Motil. 2023 Mar;44(1):25-36. doi: 10.1007/s10974-023-09644-6. Epub 2023 Apr 4. J Muscle Res Cell Motil. 2023. PMID: 37014477 Clinical Trial.
Photodynamic therapy reduces cell viability, migration and triggers necroptosis in prostate tumor cells.
de Melo Gomes LC, de Oliveira Cunha AB, Peixoto LFF, Zanon RG, Botelho FV, Silva MJB, Pinto-Fochi ME, Góes RM, de Paoli F, Ribeiro DL. de Melo Gomes LC, et al. Among authors: de paoli f. Photochem Photobiol Sci. 2023 Jun;22(6):1341-1356. doi: 10.1007/s43630-023-00382-9. Epub 2023 Mar 3. Photochem Photobiol Sci. 2023. PMID: 36867369 Free PMC article.
145 results