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

Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies

利用包含176个基因的1000例外显子组测序数据队列，估算高危夫妇的患病率及其对健康政策的重要性和相关性

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01726-4
Marinakis, Nikolaos M; Tilemis, Faidon-Nikolaos; Veltra, Danai; Svingou, Maria; Sofocleous, Christalena; Kekou, Kyriaki; Kosma, Konstantina; Kampouraki, Afrodite; Kontse, Chrysi; Fylaktou, Irene; Sertedaki, Amalia; Kanaka-Gantenbein, Christina; Traeger-Synodinos, Joanne; Makrythanasis, Periklis
发表日期：2025
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Insights into the heterogeneity of oculopharyngeal muscular dystrophy

对眼咽肌营养不良症异质性的深入了解

期刊:Neurogenetics
影响因子:1.2
doi:10.1007/s10048-025-00849-0
Kekou, Kyriaki; Papadopoulos, Constantinos; Svingou, Maria; Chrysanthou-Piterou, Margarita; Nitsa, Evangelia; Veltra, Danai; Marinakis, Nikos; Tilemis, Faidon-Nikolaos; Dimitrios, Parissis; Arnaoutoglou, Marianthi; Moschou, Maria; Xirou, Sophia; Bakirtzis, Christos; Tsivgoulis, Georgios; Papadimas, Giorgos-Konstantinos; Sofocleous, Christalena
发表日期：2025
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Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

通过全外显子组测序（WES）数据分析进行种系拷贝数变异（CNV）检测，可提高罕见遗传疾病的诊断分辨率。

期刊:Genes
影响因子:2.8
doi:10.3390/genes14071490
Tilemis, Faidon-Nikolaos; Marinakis, Nikolaos M; Veltra, Danai; Svingou, Maria; Kekou, Kyriaki; Mitrakos, Anastasios; Tzetis, Maria; Kosma, Konstantina; Makrythanasis, Periklis; Traeger-Synodinos, Joanne; Sofocleous, Christalena
发表日期：2023
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Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients

面肩肱型肌营养不良症（FSHD）患者的口面部肌肉无力

期刊:Children-Basel
影响因子:2.1
doi:10.3390/children9010096
Konstantonis, Dimitrios; Kekou, Kyriaki; Papaefthymiou, Petros; Vastardis, Heleni; Konstantoni, Nikoleta; Athanasiou, Maria; Svingou, Maria; Margariti, Anastasia; Panousopoulou, Angeliki
FSH
发表日期：2022
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Aldolase A deficiency: Report of new cases and literature review

醛缩酶A缺乏症：新病例报告及文献综述

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2021.100730
Papadopoulos, C; Svingou, M; Kekou, K; Vergnaud, S; Xirou, S; Niotakis, G; Papadimas, G K
发表日期：2021
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Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

希腊脊髓性肌萎缩症基因型和流行病学评估：一项历时24年的全国性研究

期刊:Journal of Neuromuscular Diseases
影响因子:3.4
doi:10.3233/JND-190466
Kekou, Kyriaki; Svingou, Maria; Sofocleous, Christalena; Mourtzi, Niki; Nitsa, Evangelia; Konstantinidis, George; Youroukos, Sotiris; Skiadas, Konstantinos; Katsalouli, Marina; Pons, Roser; Papavasiliou, Antigoni; Kotsalis, Charalabos; Pavlou, Evangelos; Evangeliou, Athanasios; Katsarou, Efstathia; Voudris, Konstantinos; Dinopoulos, Argirios; Vorgia, Pelagia; Niotakis, George; Diamantopoulos, Nikolaos; Nakou, Iliada; Koute, Vasiliki; Vartzelis, George; Papadimas, George-Konstantinos; Papadopoulos, Constantinos; Tsivgoulis, Georgios; Traeger-Synodinos, Joanne
神经科学
肌萎缩症
发表日期：2020
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