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Aggressive systemic mastocytosis with the co-occurrence of PRKG2::PDGFRB, KAT6A::NCOA2, and RXRA::NOTCH1 fusion transcripts and a heterozygous RUNX1 frameshift mutation.
Poscente M, Tolomeo D, Arshadi A, Agostini A, L'Abbate A, Solimando AG, Palumbo O, Carella M, Palumbo P, González T, Hernández-Rivas JM, Bassi L, Isidori R, Dell'Aquila M, Trapè G, Latagliata R, Pessina G, Natoni F, Storlazzi CT. Poscente M, et al. Cancer Genet. 2024 Jun;284-285:5-11. doi: 10.1016/j.cancergen.2024.03.002. Epub 2024 Mar 7. Cancer Genet. 2024. PMID: 38471404
Treatment in patients with acute myeloid leukemia/high-risk myelodysplastic syndrome with hypomethylating agents: Day-hospital management compared to home care setting.
Trapè G, De Angelis G, Morucci M, Tarnani M, De Gregoris C, Di Veroli A, Panichi V, Topini G, Bassi L, Isidori R, Poscente M, Innocenti V, Cippitelli EE, Talucci R, Bertelli S, Crocicchia A, Lippi A, Pezzuti G, Fuschino M, Randi R, Mastini C, Ciambella S, Pessina G, Montanaro M, Latagliata R. Trapè G, et al. Among authors: poscente m. Eur J Haematol. 2023 Aug;111(2):311-317. doi: 10.1111/ejh.14012. Epub 2023 May 26. Eur J Haematol. 2023. PMID: 37231885
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P, Walsh T, Tenesa A; GenOMICC investigators; 23andMe investigators; COVID-19 Human Genetics Initiative; Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas L, Law A, Caulfield MJ, Baillie JK. Kousathanas A, et al. Nature. 2022 Jul;607(7917):97-103. doi: 10.1038/s41586-022-04576-6. Epub 2022 Mar 7. Nature. 2022. PMID: 35255492 Free PMC article.
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.
Magini P, Poscente M, Ferrari S, Vargiolu M, Bacchelli E, Graziano C, Wischmeijer A, Turchetti D, Malaspina E, Marchiani V, Cordelli DM, Franzoni E, Romeo G, Seri M. Magini P, et al. Among authors: poscente m. Mol Cytogenet. 2015 Aug 1;8:58. doi: 10.1186/s13039-015-0164-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 26236399 Free PMC article.
18 results