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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SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations

SCN1A 调控多种癫痫表型：新型和已知变异体及其不同表现的报告

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms25115644
Veltra, Danai; Theodorou, Virginia; Katsalouli, Marina; Vorgia, Pelagia; Niotakis, Georgios; Tsaprouni, Triantafyllia; Pons, Roser; Kosma, Konstantina; Kampouraki, Afroditi; Tsoutsou, Irene; Makrythanasis, Periklis; Kekou, Kyriaki; Traeger-Synodinos, Joanne; Sofocleous, Christalena
信号转导
癫痫
神经科学
发表日期：2024
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Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature

施瓦赫曼-戴蒙德综合征的致命并发症和复杂基因型：一例反复发生新生儿死亡的家族病例报告及基于病例的文献简要回顾

期刊:Children-Basel
影响因子:2.1
doi:10.3390/children11060705
Veltra, Danai; Marinakis, Nikolaos M; Kotsios, Ioannis; Delaporta, Polyxeni; Kekou, Kyriaki; Kosma, Konstantina; Traeger-Synodinos, Joanne; Sofocleous, Christalena
发表日期：2024
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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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A Greek National Cross-Sectional Study on Myotonic Dystrophies

希腊全国强直性肌营养不良症横断面研究

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms232415507
Papadimas, Georgios K; Papadopoulos, Constantinos; Kekou, Kyriaki; Kartanou, Chrisoula; Kladi, Athina; Nitsa, Evangelia; Sofocleous, Christalena; Tsanou, Evangelia; Sarmas, Ioannis; Kaninia, Stefania; Chroni, Elisabeth; Tsivgoulis, Georgios; Kimiskidis, Vasilios; Arnaoutoglou, Marianthi; Stefanis, Leonidas; Panas, Marios; Koutsis, Georgios; Karadima, Georgia; Traeger-Synodinos, Joanne
强直性脊柱炎
发表日期：2022
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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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Orofacial Manifestations Associated with Muscular Dystrophies: A Review

肌营养不良症相关的口面部表现：综述

期刊:Turkish Journal of Orthodontics
影响因子:1.4
doi:10.5152/TurkJOrthod.2021.21021
Papaefthymiou, Petros; Kekou, Kyriaki; Özdemir, Fulya
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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