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Page 1
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S. Lassuthova P, et al. Among authors: saghira c. Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023. Am J Hum Genet. 2018. PMID: 29499166 Free PMC article.
Prot2HG: a database of protein domains mapped to the human genome.
Stanek D, Bis-Brewer DM, Saghira C, Danzi MC, Seeman P, Lassuthova P, Zuchner S. Stanek D, et al. Among authors: saghira c. Database (Oxford). 2020 Jan 1;2020:baz161. doi: 10.1093/database/baz161. Database (Oxford). 2020. PMID: 32293014 Free PMC article.
Feasibility of functional precision medicine for guiding treatment of relapsed or refractory pediatric cancers.
Acanda De La Rocha AM, Berlow NE, Fader M, Coats ER, Saghira C, Espinal PS, Galano J, Khatib Z, Abdella H, Maher OM, Vorontsova Y, Andrade-Feraud CM, Daccache A, Jacome A, Reis V, Holcomb B, Ghurani Y, Rimblas L, Guilarte TR, Hu N, Salyakina D, Azzam DJ. Acanda De La Rocha AM, et al. Among authors: saghira c. Nat Med. 2024 Apr;30(4):990-1000. doi: 10.1038/s41591-024-02848-4. Epub 2024 Apr 11. Nat Med. 2024. PMID: 38605166 Free PMC article.
Clinical Utility of Functional Precision Medicine in the Management of Recurrent/Relapsed Childhood Rhabdomyosarcoma.
Acanda De La Rocha AM, Fader M, Coats ER, Espinal PS, Berrios V, Saghira C, Sotto I, Shakya R, Janvier M, Khatib Z, Abdella H, Bittle M, Andrade-Feraud CM, Guilarte TR, McCafferty-Fernandez J, Salyakina D, Azzam DJ. Acanda De La Rocha AM, et al. Among authors: saghira c. JCO Precis Oncol. 2021 Oct 27;5:PO.20.00438. doi: 10.1200/PO.20.00438. eCollection 2021. JCO Precis Oncol. 2021. PMID: 34738048 Free PMC article. No abstract available.