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

Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology

癫痫疾病分类:一项旨在完善 Mondo 疾病本体的社区努力

Vasilevsky, Nicole; Gehrke, Sarah; Mullen, Kathleen; Barua, Subit; Braun, Ian; Brünger, Tobias; Coughlin, Curtis 2nd; Ivaniuk, Alina; Korn, Daniel; Lal, Dennis; Marsh, Stephanie; O'Loughlin, Elaine; Olson, Daniel; Shwetar, Yousif; Sofocleous, Christalena; Vogel-Farley, Vanessa; Grabenstatter, Heidi; Haendel, Melissa; Mungall, Christopher; Toro, Sabrina

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

揭示WDR91的作用:一例先前未被识别的临床实体的病例报告

Marinakis, Nikolaos M; Kampouraki, Afrodite; Veltra, Danai; Tilemis, Faidon-Nikolaos; Vasilopoulou, Maria; Dokou, Aikaterini; Georgiadou, Elissavet; Karavergou, Euthalia; Christolouka, Maria; Alexopoulos, Alexis; Kirillidi, Dimitra; Goudesidou, Maria; Kosma, Konstantina; Sofocleous, Christalena; Makrythanasis, Periklis

A programmed decline in ribosome levels governs human early neurodevelopment

核糖体水平的程序性下降控制着人类早期神经发育。

Chunyang Ni # ,Yudong Wei # ,Barbara Vona # ,Dayea Park ,Yulei Wei ,Daniel A Schmitz ,Yi Ding ,Masahiro Sakurai ,Emily Ballard ,Leijie Li ,Yan Liu ,Ashwani Kumar ,Chao Xing ,Shenlu Qin ,Sangin Kim ,Martina Foglizzo ,Jianchao Zhao ,Hyung-Goo Kim ,Cumhur Ekmekci ,Ehsan Ghayoor Karimiani ,Shima Imannezhad ,Fatemeh Eghbal ,Reza Shervin Badv ,Eva Maria Christina Schwaibold ,Mohammadreza Dehghani ,Mohammad Yahya Vahidi Mehrjardi ,Zahra Metanat ,Hosein Eslamiyeh ,Ebtissal Khouj ,Saleh Mohammed Nasser Alhajj ,Aziza Chedrawi ,Khushnooda Ramzan ,Jamil A Hashmi ,Majed M Alluqmani ,Sulman Basit ,Danai Veltra ,Nikolaos M Marinakis ,Georgios Niotakis ,Pelagia Vorgia ,Christalena Sofocleous ,Hane Lee ,Won Chan Jeong ,Muhammad Umair ,Muhammad Bilal ,César Augusto Pinheiro Ferreira Alves ,Matthew Sieber ,Michael Kruer ,Henry Houlden ,Fowzan S Alkuraya ,Elton Zeqiraj ,Roger A Greenberg ,Can Cenik ,Leqian Yu ,Reza Maroofian ,Jun Wu ,Michael Buszczak

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

TMEM184B 的致病性变异会导致一种与代谢信号改变相关的神经发育综合征。

Chapman, Kimberly A; Ullah, Farid; Yahiku, Zachary A; Khan, Sheraz; Kodiparthi, Sri Varsha; Kellaris, Georgios; White, Hazel G; Powell, Andrew T; Correia, Sandrina P; Stödberg, Tommy; Sofocleous, Christalena; Marinakis, Nikolaos M; Fryssira, Helena; Tsoutsou, Eirini; Traeger-Synodinos, Jan; Accogli, Andrea; Sciruicchio, Vittorio; Salpietro, Vincenzo; Striano, Pasquale; Muss, Candace; Keren, Boris; Heron, Delphine; Berger, Seth I; Pond, Kelvin W; Sirimulla, Suman; Davis, Erica E; Bhattacharya, Martha R C

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

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

Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 Patients

基于分子和临床特征对范可尼贫血症的认识:一项包含13名患者的多中心研究

Saranti, Simoni; Selenti, Nikoletta; Sofocleous, Christalena; Traeger-Synodinos, Joanne; Kattamis, Antonis; Papadakis, Vassilios; Goussetis, Evgenios; Kelaidi, Charikleia; Paisiou, Anna; Polychronopoulou, Sophia; Kossiva, Lydia

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

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

Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management

α-珠蛋白基因表达和α-珠蛋白修饰因子对β-地中海贫血和其他血红蛋白病表型的影响:对患者管理的启示

Traeger-Synodinos, Joanne; Vrettou, Christina; Sofocleous, Christalena; Zurlo, Matteo; Finotti, Alessia; Gambari, Roberto

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

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

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

布莱恩特-李-博伊综合征(Bryant-Li-Bhoj syndrome)神经发育和神经退行性疾病的表型谱扩展,新增38例患者

Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I; Nowaczyk, M J M; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Traeger Synodinos, Joanne; Voudris, Konstantinos A; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R Frank; Meuwissen, Marije; Cocanougher, Benjamin T; Taylor, Kathryn; Pizoli, Carolyn E; McDonald, Marie T; James, Philip; Roeder, Elizabeth R; Littlejohn, Rebecca; Borja, Nicholas A; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; L E Guyader, Gwenaël; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J K; Bryant, Laura M