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Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S, Xenophontos M, Minaidou A, Stephanou C, Harteveld CL, Bento C, Traeger-Synodinos J, Fylaktou I, Yasin NM, Abdul Hamid FS, Esa E, Halim-Fikri H, Zilfalil BA, Kakouri AC; ClinGen Hemoglobinopathy Variant Curation Expert Panel; Kleanthous M, Kountouris P. Tamana S, et al. Among authors: zilfalil ba. Elife. 2022 Dec 1;11:e79713. doi: 10.7554/eLife.79713. Elife. 2022. PMID: 36453528 Free PMC article.
Editorial: Insights in thalassemia: from genomics to clinical practice.
Silao CLT, Latiff ZA, Kountouris P, Zilfalil BA. Silao CLT, et al. Among authors: zilfalil ba. Front Pediatr. 2023 Jul 14;11:1222946. doi: 10.3389/fped.2023.1222946. eCollection 2023. Front Pediatr. 2023. PMID: 37520048 Free PMC article. No abstract available.
Population genetic structure of peninsular Malaysia Malay sub-ethnic groups.
Hatin WI, Nur-Shafawati AR, Zahri MK, Xu S, Jin L, Tan SG, Rizman-Idid M, Zilfalil BA; HUGO Pan-Asian SNP Consortium. Hatin WI, et al. Among authors: zilfalil ba. PLoS One. 2011 Apr 5;6(4):e18312. doi: 10.1371/journal.pone.0018312. PLoS One. 2011. PMID: 21483678 Free PMC article.
Central resources of variant discovery and annotation and its role in precision medicine.
Halim-Fikri H, Syed-Hassan SR, Wan-Juhari WK, Assyuhada MGSN, Hernaningsih Y, Yusoff NM, Merican AF, Zilfalil BA. Halim-Fikri H, et al. Among authors: zilfalil ba. Asian Biomed (Res Rev News). 2023 Aug 1;16(6):285-298. doi: 10.2478/abm-2022-0032. eCollection 2022 Dec. Asian Biomed (Res Rev News). 2023. PMID: 37551357 Free PMC article. Review.
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: zilfalil ba. J Pers Med. 2022 Mar 31;12(4):552. doi: 10.3390/jpm12040552. J Pers Med. 2022. PMID: 35455667 Free PMC article.
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: zilfalil ba. 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.
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: zilfalil ba. 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.
82 results