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Page 1
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: mulargia m. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293212. doi: 10.1101/2023.08.02.23293212. medRxiv. 2023. Update in: Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w PMID: 37577678 Free PMC article. Updated. 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: mulargia m. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
Four years monitoring of the endangered European plethodontid salamanders.
Coppari L, Di Gregorio M, Corti C, Merilli S, Mulargia M, Cogoni R, Manenti R, Ficetola GF, Lunghi E. Coppari L, et al. Among authors: mulargia m. Sci Data. 2024 Jun 27;11(1):706. doi: 10.1038/s41597-024-03555-y. Sci Data. 2024. PMID: 38937493 Free PMC article.
Batracobdella leeches, environmental features and Hydromantes salamanders.
Lunghi E, Ficetola GF, Mulargia M, Cogoni R, Veith M, Corti C, Manenti R. Lunghi E, et al. Among authors: mulargia m. Int J Parasitol Parasites Wildl. 2018 Jan 9;7(1):48-53. doi: 10.1016/j.ijppaw.2018.01.003. eCollection 2018 Apr. Int J Parasitol Parasites Wildl. 2018. PMID: 29988806 Free PMC article.
Absence of activating killer immunoglobulin-like receptor genes combined with hepatitis C viral genotype is predictive of hepatocellular carcinoma.
Littera R, Zamboni F, Tondolo V, Fantola G, Chessa L, Orrù N, Sanna M, Valentini D, Cappai L, Mulargia M, Caocci G, Arras M, Floris A, Orrù S, La Nasa G, Carcassi C. Littera R, et al. Among authors: mulargia m. Hum Immunol. 2013 Oct;74(10):1288-94. doi: 10.1016/j.humimm.2013.05.007. Epub 2013 Jun 10. Hum Immunol. 2013. PMID: 23756163
Interactions between killer immunoglobulin-like receptors and their human leucocyte antigen Class I ligands influence the outcome of unrelated haematopoietic stem cell transplantation for thalassaemia: a novel predictive algorithm.
Littera R, Orrù N, Caocci G, Sanna M, Mulargia M, Piras E, Vacca A, Giardini C, Orofino MG, Visani G, Bertaina A, Giorgiani G, Locatelli F, Carcassi C, La Nasa G. Littera R, et al. Among authors: mulargia m. Br J Haematol. 2012 Jan;156(1):118-28. doi: 10.1111/j.1365-2141.2011.08923.x. Epub 2011 Nov 14. Br J Haematol. 2012. PMID: 22077388 Free article.
30 results