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Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries.
Halim-Fikri BH, Lederer CW, Baig AA, Mat-Ghani SNA, Syed-Hassan SR, Yusof W, Abdul Rashid D, Azman NF, Fucharoen S, Panigoro R, Silao CLT, Viprakasit V, Jalil N, Mohd Yasin N, Bahar R, Selvaratnam V, Mohamad N, Nik Hassan NN, Esa E, Krause A, Robinson H, Hasler J, Stephanou C, Raja-Sabudin RZ, Elion J, El-Kamah G, Coviello D, Yusoff N, Abdul Latiff Z, Arnold C, Burn J, Kountouris P, Kleanthous M, Ramesar R, Zilfalil BA, On Behalf Of The Global Globin Network Ggn. Halim-Fikri BH, et al. Among authors: stephanou c. J Pers Med. 2022 Mar 31;12(4):552. doi: 10.3390/jpm12040552. J Pers Med. 2022. PMID: 35455667 Free PMC article.
Short-hairpin RNA against aberrant HBBIVSI-110(G>A) mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells.
Patsali P, Papasavva P, Stephanou C, Christou S, Sitarou M, Antoniou MN, Lederer CW, Kleanthous M. Patsali P, et al. Among authors: stephanou c. Haematologica. 2018 Sep;103(9):e419-e423. doi: 10.3324/haematol.2018.189357. Epub 2018 Apr 26. Haematologica. 2018. PMID: 29700171 Free PMC article. No abstract available.
Correction of IVS I-110(G>A) β-thalassemia by CRISPR/Cas-and TALEN-mediated disruption of aberrant regulatory elements in human hematopoietic stem and progenitor cells.
Patsali P, Turchiano G, Papasavva P, Romito M, Loucari CC, Stephanou C, Christou S, Sitarou M, Mussolino C, Cornu TI, Antoniou MN, Lederer CW, Cathomen T, Kleanthous M. Patsali P, et al. Among authors: stephanou c. Haematologica. 2019 Nov;104(11):e497-e501. doi: 10.3324/haematol.2018.215178. Epub 2019 Apr 19. Haematologica. 2019. PMID: 31004018 Free PMC article. No abstract available.
Sex-specific transcriptional profiles identified in β-thalassemia patients.
Nanou A, Toumpeki C, Fanis P, Bianchi N, Cosenza LC, Zuccato C, Sentis G, Giagkas G, Stephanou C, Phylactides M, Christou S, Hadjigavriel M, Sitarou M, Lederer CW, Gambari R, Kleanthous M, Katsantoni E. Nanou A, et al. Among authors: stephanou c. Haematologica. 2021 Apr 1;106(4):1207-1211. doi: 10.3324/haematol.2020.248013. Haematologica. 2021. PMID: 32817281 Free PMC article. No abstract available.
The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies.
Kountouris P, Stephanou C, Archer N, Bonifazi F, Giannuzzi V, Kuo KHM, Maggio A, Makani J, Mañú-Pereira MDM, Michailidou K, Nkya S, Nnodu OE, Trompeter S, Tshilolo L, Wonkam A, Zilfalil BA, Inusa BPD, Kleanthous M; on behalf of the International Hemoglobinopathy Research Network (INHERENT). Kountouris P, et al. Among authors: stephanou c. Am J Hematol. 2021 Nov 1;96(11):E416-E420. doi: 10.1002/ajh.26323. Epub 2021 Aug 30. Am J Hematol. 2021. PMID: 34406671 Free PMC article. No abstract available.
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Kountouris P, Stephanou C, Lederer CW, Traeger-Synodinos J, Bento C, Harteveld CL, Fylaktou E, Koopmann TT, Halim-Fikri H, Michailidou K, Nfonsam LE, Waye JS, Zilfalil BA, Kleanthous M; ClinGen Hemoglobinopathy Variant Curation Expert Panel. Kountouris P, et al. Among authors: stephanou c. Hum Mutat. 2022 Aug;43(8):1089-1096. doi: 10.1002/humu.24280. Epub 2021 Sep 24. Hum Mutat. 2022. PMID: 34510646 Free PMC article.
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