日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease

基于ACMG/AMP的变异分类,对一种新型HBA2变异(HBA2: C.297del,Hb Taiping)与Hb Adana(HBA2: C.179G>A)复合杂合,导致非缺失型Hb H病。

Yasin, Norafiza Mohd; Somasundram, Suguna; Hassan, Syahzuwan; Aziz, Nur Aisyah; Hamid, Faidatul Syazlin Abdul; Zulkefli, Ezzanie Suffya; Mohamad, Nor Nazuha; Lee, Chin Ming; Darawi, Mohd Nazif; Papasavva, Thessalia; Stephanou, Coralea; Kountouris, Petros; Arkesteijn, Sandra J G; Koopman, Tamara; Harteveld, Cornelis L

HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond

HELIOS行动:推进欧洲及其他地区血红蛋白病的研究、教育和公平。

Chatzimatthaiou, Sotiroula; Bonifazi, Fedele; Gimbert, Anna C; Colombatti, Raffaella; Cremonesi, Francesco; Glenthøj, Andreas; Mezzalira, Elisabetta; Stephanou, Coralea; Traeger-Synodinos, Jan; Antic, Darko; Durmaz, Burak; Gavriilaki, Eleni; Inusa, Baba; Landi, Annalisa; Pellegrini, Mariangela; Basile, Francesca; Muth, Stephanie; Cario, Holger; Katsantoni, Eleni; Ruhluel, Dilem; Lederer, Carsten Werner; Mañú-Pereira, María Del Mar; Kountouris, Petros

Advancing Community Care and Access to Follow-Up after Acute Kidney Injury Hospitalization: A Randomized Clinical Trial

改善急性肾损伤住院患者社区护理和后续随访:一项随机临床试验

Pannu, Neesh; McBrien, Kerry A; Tan, Zhi; Ahmad, Nasreen; Bignell, Coralea; Benterud, Eleanor; Palechuk, Taylor; Harrison, Tyrone G; Manns, Braden J; Scott-Douglas, Nairne; James, Matthew T

Pumping Up the Standards: A Call for Improved Cardiovascular Event Reporting in Oncology Trials

提高标准:呼吁改进肿瘤临床试验中心血管事件的报告

Kappel, Coralea; Abdel-Qadir, Husam; Nadler, Michelle B

Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies

与胎儿血红蛋白 (HbF) 水平和 F 细胞数量相关的遗传多态性:全基因组关联研究的系统评价

Stephanou, Coralea; Menzel, Stephan; Philipsen, Sjaak; Kountouris, Petros

Comparison of the ABC and ACMG systems for variant classification

ABC系统与ACMG系统在变异分类中的比较

Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Žukauskaitė, Gabrielė; Sansovic, Ivona; Brea-Fernández, Alejandro J; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe; Wright, William; Markovic, Milica Keckarevic; Lildballe, Dorte L; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena; Lubieniecka, Joanna M; Stojiljkovic, Maja; Buisine, Marie-Pierre; Haukanes, Bjørn Ivar; Lorans, Marie; Roomere, Hanno; Petit, François M; Haanpää, Maria K; Beneteau, Claire; Pérez, Belén; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I; Stephanou, Coralea; Sjursen, Wenche; Maver, Aleš; Rouzier, Cécile; Chirita-Emandi, Adela; Gonçalves, João; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T; Laner, Andreas

Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia

揭示β地中海贫血症中+33 C>G [HBB:c.-18C>G]变异的复杂性

Stephanou, Coralea; Petrou, Miranda; Kountouris, Petros; Makariou, Christiana; Christou, Soteroula; Hadjigavriel, Michael; Kleanthous, Marina; Papasavva, Thessalia

IthaPhen: An Interactive Database of Genotype-Phenotype Data for Hemoglobinopathies

IthaPhen:血红蛋白病基因型-表型数据交互式数据库

Xenophontos, Maria; Minaidou, Anna; Stephanou, Coralea; Tamana, Stella; Kleanthous, Marina; Kountouris, Petros

Evaluation of Mono- and Bi-Functional GLOBE-Based Vectors for Therapy of β-Thalassemia by HBBAS3 Gene Addition and Mutation-Specific RNA Interference

通过 HBBAS3 基因添加和突变特异性 RNA 干扰对 β-地中海贫血进行治疗的单体和双功能 GLOBE 载体的评估

Lola Koniali, Christina Flouri, Markela I Kostopoulou, Nikoletta Y Papaioannou, Panayiota L Papasavva, Basma Naiisseh, Coralea Stephanou, Anthi Demetriadou, Maria Sitarou, Soteroula Christou, Michael N Antoniou, Marina Kleanthous, Petros Patsali, Carsten W Lederer

P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL

P135:CLINGEN血红蛋白病变异体鉴定专家组

Donegan, Macayla L; Stefanini, Fabio; Meira, Torcato; Gordon, Joshua A; Fusi, Stefano; Siegelbaum, Steven A; Coralea Stephanou, C; Petros Kountouris, P; Carsten W Lederer, C; Celeste Bento, C; Cornelis L Hartveld, C; Jan Traeger-Synodinos, J; John S Waye, J; Zhiyu Peng, Z; Irene Fylaktou, I; Hashim Halim-Fikri, H; Tamara T. Koopmann, T; Landry Nfonsam, L; Jun Sun, J; Franck Nzengu-Lukusa, F; Michael Angastiniotis, M; Catherine Badens, C; Bertha Ibarra Cortes, B; Johan T. den Dunnen, J; Jacques Elion, J; Suthat Fucharoen, S; Kyriaki Michailidou, K; Thessalia Papasavva, T; Antonio Piga, A; Raj Ramesar, R; Swee Lay Thein, S; Léon Tshilolo, L; Zilfalil Bin Alwi, Z; Marina Kleanthous, M