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

Functional correction and genome integrity with duplex base editing of β-thalassemic hematopoietic stem cells

利用β-地中海贫血造血干细胞的双链碱基编辑实现功能矫正和基因组完整性

Papaioannou, Nikoletta Y; Patsali, Petros; Klermund, Julia; Papasavva, Panayiota L; Andrieux, Geoffroy; Koniali, Lola; Naiisseh, Basma; Christou, Soteroula; Sitarou, Maria; Kleanthous, Marina; Cathomen, Toni; Lederer, Carsten W

Special Issue "Genetic Modifiers of Hemoglobinopathies: Recent Advances and Future Directions"

特刊“血红蛋白病遗传修饰因子:最新进展与未来方向”

Lederer, Carsten W; Felice, Alex E; Kountouris, Petros

From Bench to Bedside: Ethical and Clinical Best Practices for Genome Editing Applications

从实验室到临床:基因组编辑应用的伦理和临床最佳实践

Ortiz-Bueno, María; Zinghirino, Federica; Serra, Pilar Puig; Paschoudi, Kyriaki; Montoliu, Lluis; Atilla, Erden; Luo, Yonglun; Cavazza, Alessia; Lederer, Carsten W; Benabdellah, Karim

Genetic Modifiers Associated with Vaso-Occlusive Crises and Acute Pain Phenomena in Sickle Cell Disease: A Scoping Review

镰状细胞病血管阻塞危象和急性疼痛现象相关遗传修饰因子:一项范围综述

Sophocleous, Froso; Archer, Natasha M; Lederer, Carsten W

Evaluation of Five Plasma miRNAs as Biomarkers for Minimally Invasive Staging of Liver Fibrosis in β-Thalassaemia Patients

评估五种血浆 miRNA 作为 β-地中海贫血患者肝纤维化微创分期生物标志物的价值

Özkaramehmet, Sevgi; Andreou, Savanna; Yiangou, Kristia; Christou, Soteroula; Hadjigavriel, Michalis; Sitarou, Maria; Pyrovolaki, Katerina; Papanicolaou, Eleni; Flourou, Christina; Savvidou, Irene; Boutsikos, Panagiotis; Mendoni, Alexandra; Kleanthous, Marina; Phylactides, Marios; Lederer, Carsten W

Global Globin Network and adopting genomic variant database requirements for thalassemia

全球珠蛋白网络及地中海贫血基因组变异数据库要求的采纳

Halim-Fikri, Hashim; Zulkipli, Ninie Nadia; Alauddin, Hafiza; Bento, Celeste; Lederer, Carsten W; Kountouris, Petros; Kleanthous, Marina; Hernaningsih, Yetti; Thong, Meow-Keong; Mahmood, Muhammad Hamdi; Mohd Yasin, Norafiza; Esa, Ezalia; Elion, Jacques; Coviello, Domenico; Raja-Sabudin, Raja-Zahratul-Azma; El-Kamah, Ghada; Burn, John; Mohd Yusoff, Narazah; Ramesar, Raj; Zilfalil, Bin Alwi

Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome

病例报告:重新思考NGS分析在诊断Diamond-Blackfan贫血综合征中的应用

Papasavva, Panayiota L; Kaouranis, Konstantinos; Byrou, Stefania; Constantinou, Constantina G; Efrosini, Iacovou; Kleanthous, Marina; Lederer, Carsten W; Papasavva, Thessalia

Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi

基因编辑治疗人类疾病的进展与协调:COST行动CA21113 GenE-HumDi会议记录

Cavazza, Alessia; Hendel, Ayal; Bak, Rasmus O; Rio, Paula; Güell, Marc; Lainšček, Duško; Arechavala-Gomeza, Virginia; Peng, Ling; Hapil, Fatma Zehra; Harvey, Joshua; Ortega, Francisco G; Gonzalez-Martinez, Coral; Lederer, Carsten W; Mikkelsen, Kasper; Gasiunas, Giedrius; Kalter, Nechama; Gonçalves, Manuel A F V; Petersen, Julie; Garanto, Alejandro; Montoliu, Lluis; Maresca, Marcello; Seemann, Stefan E; Gorodkin, Jan; Mazini, Loubna; Sanchez, Rosario; Rodriguez-Madoz, Juan R; Maldonado-Pérez, Noelia; Laura, Torella; Schmueck-Henneresse, Michael; Maccalli, Cristina; Grünewald, Julian; Carmona, Gloria; Kachamakova-Trojanowska, Neli; Miccio, Annarita; Martin, Francisco; Turchiano, Giandomenico; Cathomen, Toni; Luo, Yonglun; Tsai, Shengdar Q; Benabdellah, Karim

Catching Them Early: Framework Parameters and Progress for Prenatal and Childhood Application of Advanced Therapies

及早发现:产前和儿童期应用先进疗法的框架参数和进展

Lederer, Carsten W; Koniali, Lola; Buerki-Thurnherr, Tina; Papasavva, Panayiota L; La Grutta, Stefania; Licari, Amelia; Staud, Frantisek; Bonifazi, Donato; Kleanthous, Marina

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

ACMG/AMP变异分类框架的调整:来自ClinGen血红蛋白病变异注释专家组的观点

Kountouris, Petros; Stephanou, Coralea; Lederer, Carsten W; Traeger-Synodinos, Joanne; Bento, Celeste; Harteveld, Cornelis L; Fylaktou, Eirini; Koopmann, Tamara T; Halim-Fikri, Hashim; Michailidou, Kyriaki; Nfonsam, Landry E; Waye, John S; Zilfalil, Bin A; Kleanthous, Marina