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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. 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.
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
Papasavva T, van Ijcken WF, Kockx CE, van den Hout MC, Kountouris P, Kythreotis L, Kalogirou E, Grosveld FG, Kleanthous M. Papasavva T, et al. Among authors: kountouris p. Eur J Hum Genet. 2013 Dec;21(12):1403-10. doi: 10.1038/ejhg.2013.47. Epub 2013 Apr 10. Eur J Hum Genet. 2013. PMID: 23572027 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. 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.
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: kountouris p. J Pers Med. 2022 Mar 31;12(4):552. doi: 10.3390/jpm12040552. J Pers Med. 2022. PMID: 35455667 Free PMC article.
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: kountouris p. Elife. 2022 Dec 1;11:e79713. doi: 10.7554/eLife.79713. Elife. 2022. PMID: 36453528 Free PMC article.
Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet.
Collado A, Boaro MP, van der Veen S, Idrizovic A, Biemond BJ, Beneitez Pastor D, Ortuño A, Cela E, Ruiz-Llobet A, Bartolucci P, de Montalembert M, Castellani G, Biondi R, Manara R, Sanavia T, Fariselli P, Kountouris P, Kleanthous M, Alvarez F, Zazo S, Colombatti R, van Beers EJ, Mañú-Pereira MDM. Collado A, et al. Among authors: kountouris p. Hemasphere. 2023 Feb 22;7(3):e844. doi: 10.1097/HS9.0000000000000844. eCollection 2023 Mar. Hemasphere. 2023. PMID: 36844183 Free PMC article. No abstract available.
24 results