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Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: stephanou c. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778080 Free PMC article.
Evaluation of Mono- and Bi-Functional GLOBE-Based Vectors for Therapy of β-Thalassemia by HBBAS3 Gene Addition and Mutation-Specific RNA Interference.
Koniali L, Flouri C, Kostopoulou MI, Papaioannou NY, Papasavva PL, Naiisseh B, Stephanou C, Demetriadou A, Sitarou M, Christou S, Antoniou MN, Kleanthous M, Patsali P, Lederer CW. Koniali L, et al. Among authors: stephanou c. Cells. 2023 Dec 15;12(24):2848. doi: 10.3390/cells12242848. Cells. 2023. PMID: 38132168 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: stephanou c. Elife. 2022 Dec 1;11:e79713. doi: 10.7554/eLife.79713. Elife. 2022. PMID: 36453528 Free PMC article.
27 results