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Prioritization of putatively detrimental variants in euploid miscarriages.
Buonaiuto S, Biase ID, Aleotti V, Ravaei A, Marino A, Damaggio G, Chierici M, Pulijala M, D'Ambrosio P, Esposito G, Ayub Q, Furlanello C, Greco P, Capalbo A, Rubini M, Biase SD, Colonna V. Buonaiuto S, et al. Among authors: colonna v. Sci Rep. 2022 Feb 7;12(1):1997. doi: 10.1038/s41598-022-05737-3. Sci Rep. 2022. PMID: 35132093 Free PMC article.
Building pangenome graphs.
Garrison E, Guarracino A, Heumos S, Villani F, Bao Z, Tattini L, Hagmann J, Vorbrugg S, Marco-Sola S, Kubica C, Ashbrook DG, Thorell K, Rusholme-Pilcher RL, Liti G, Rudbeck E, Nahnsen S, Yang Z, Moses MN, Nobrega FL, Wu Y, Chen H, de Ligt J, Sudmant PH, Soranzo N, Colonna V, Williams RW, Prins P. Garrison E, et al. Among authors: colonna v. bioRxiv [Preprint]. 2023 Apr 6:2023.04.05.535718. doi: 10.1101/2023.04.05.535718. bioRxiv. 2023. PMID: 37066137 Free PMC article. Preprint.
Positive selection in Europeans and East-Asians at the ABCA12 gene.
Sirica R, Buonaiuto M, Petrella V, Sticco L, Tramontano D, Antonini D, Missero C, Guardiola O, Andolfi G, Kumar H, Ayub Q, Xue Y, Tyler-Smith C, Salvemini M, D'Angelo G, Colonna V. Sirica R, et al. Among authors: colonna v. Sci Rep. 2019 Mar 19;9(1):4843. doi: 10.1038/s41598-019-40360-9. Sci Rep. 2019. PMID: 30890716 Free PMC article.
Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest.
Capalbo A, Buonaiuto S, Figliuzzi M, Damaggio G, Girardi L, Caroselli S, Poli M, Patassini C, Cetinkaya M, Yuksel B, Azad A, Grøndahl ML, Hoffmann ER, Simón C, Colonna V, Kahraman S. Capalbo A, et al. Among authors: colonna v. Reprod Biomed Online. 2022 Sep;45(3):508-518. doi: 10.1016/j.rbmo.2022.05.009. Epub 2022 May 21. Reprod Biomed Online. 2022. PMID: 35798635
Predictive medicine in a testis trio-family through a combined multi-omics approach.
Di Maggio F, Damaggio G, Nunziato M, Buonaiuto S, Crocetto F, Calabrese A, Aveta A, Vino G, Donvito G, Pandolfo SD, Imbimbo C, Colonna V, Salvatore F. Di Maggio F, et al. Among authors: colonna v. Clin Transl Med. 2024 Apr;14(4):e1643. doi: 10.1002/ctm2.1643. Clin Transl Med. 2024. PMID: 38616705 Free PMC article. No abstract available.
89 results