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

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

保守的错义变异致病性和旁系同源基因的相关表型

Brünger, Tobias; Ivaniuk, Alina; Pérez-Palma, Eduardo; Montanucci, Ludovica; Cohen, Stacey; Smith, Lacey; Parthasarathy, Shridhar; Helbig, Ingo; Nothnagel, Michael; May, Patrick; Lal, Dennis

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey

线粒体疾病患者死亡相关因素的特征分析:一项多中心横断面调查

Ivaniuk, Alina; Anselm, Irina A; Bowen, Aaron; Cohen, Bruce H; Eminoglu, Fatma Tuba; Estrella, Jane; Gallagher, Renata C; Ganetzky, Rebecca D; Gannon, Jennifer; Gorman, Grainne S; Greene, Carol; Gropman, Andrea L; Haas, Richard H; Hirano, Michio; Kapoor, Seema; Karaa, Amel; Koenig, Mary Kay; Kornblum, Cornelia; Kose, Engin; Larson, Austin; Lichter-Konecki, Uta; Lopriore, Piervito; Mancuso, Michelangelo; McFarland, Robert; Moe, Aye Myat; Morava, Eva; Ng, Yi Shiau; Saneto, Russell P; Scaglia, Fernando; Sue, Carolyn M; Tarnopolsky, Mark; Walker, Melissa A; Parikh, Sumit; Cheuk-Wing, Fung; Wong, Tsz-Sum; Belaramani, Kiran; Chan, Chun-Kong; Chan, Wing-Ki; Chan, Wai-Lun Larry; Cheung, Hon-Wing; Cheung, Ka-Yin; Chang, Shek-Kwan; Cheung, Sing-Ngai; Cheung, Tsz-Fung; Cheung, Yuk-Fai; Chong, Shuk-Ching Josephine; Chow, Chi-Kwan Jasmine; Chung, Hon-Yin B; Fan, Sin-Ying Florence; Fok, Wai-Ming Joshua; Fong, Ka-Wing; Fung, Tsui-Hang Sharon; Hui, Kwok-Fai; Hui, Ting-Hin; Hui, Joannie; Ko, Chun Hung; Kwan, Min-Chung; Kwok, Mei-Kwan Anne; Kwok, Sung-Shing Jeffrey; Lai, Moon-Sing; Lam, Yau-On; Lam, Ching-Wan; Lau, Ming-Chung; Law, Chun-Yiu Eric; Law, Hiu-Fung; Lee, Wing-Cheong; Hencher Lee, Han-Chih; Leung, Kin-Hang; Leung, Kit-Yan; Li, Siu-Hung; Ling, Tsz-Ki Jacky; Liu, Kam-Tim Timothy; Lo, Fai-Man; Lui, Colin; Luk, Ching-On; Luk, Ho-Ming; Ma, Che-Kwan; Ma, Karen; Ma, Kam-Hung; Mew, Yuen-Ni; Mo, Alex; Hg, Sui-Fun; Poon, Wing-Kit Grace; Sheng, Bun; Szeto, Cheuk-Ling Charing; Tai, Shuk-Mui; Tang, Jing-Liang; Tse, Choi-Ting Alan; Tsung, Li-Yan Lilian; Wong, Ho-Ming June; Wong, Wing-Yin Winnie; Wong, Kwok-Kui; Wong, Suet-Na Sheila; Wong, Chun-Nei Virginia; Wong, Wai-Shan Sammy; Wong, Chi-Kin Felix; Wu, Shun-Ping; Wu, Hiu-Fung Jerome; Yau, Man-Mut; Yau, Kin-Cheong Eric; Yeung, Wai-Lan; Yeung, Hon-Ming Jonas; Yip, Kin-Keung Edwin; Wu, Hui-Jun; Young, Pui-Hong Terence; Yuan, Gao; Yuen, Yuet-Ping Liz; Yuen, Chi-Lap

Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy-associated genetic missense variants

评估新型计算机模拟工具在癫痫相关基因错义变异致病性分类中的准确性

Montanucci, Ludovica; Brünger, Tobias; Boßelmann, Christian M; Ivaniuk, Alina; Pérez-Palma, Eduardo; Lhatoo, Samden; Leu, Costin; Lal, Dennis

Healthcare utilization and clinical characteristics of genetic epilepsy in electronic health records

电子健康记录中遗传性癫痫的医疗保健利用情况和临床特征

Boßelmann, Christian M; Ivaniuk, Alina; St John, Mark; Taylor, Sara C; Krishnaswamy, Gokul; Milinovich, Alex; Leu, Costin; Gupta, Ajay; Pestana-Knight, Elia M; Najm, Imad; Lal, Dennis

Effects of Electron-Withdrawing Strengths of the Substituents on the Properties of 4-(Carbazolyl-R-benzoyl)-5-CF(3)-1H-1,2,3-triazole Derivatives as Blue Emitters for Doping-Free Electroluminescence Devices

取代基吸电子强度对4-(咔唑基-R-苯甲酰基)-5-CF(3)-1H-1,2,3-三唑衍生物作为无掺杂电致发光器件蓝色发光材料性能的影响

Stanitska, Mariia; Pokhodylo, Nazariy; Lytvyn, Roman; Urbonas, Ervinas; Volyniuk, Dmytro; Kutsiy, Stepan; Ivaniuk, Khrystyna; Kinzhybalo, Vasyl; Stakhira, Pavlo; Keruckiene, Rasa; Obushak, Mykola; Gražulevičius, Juozas Vidas

Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder

自然语言处理和专家后续研究证实了心动过速与 CDKL5 缺乏症之间的关联

Ivaniuk, Alina; Boßelmann, Christian M; Zhang, Xiaoming; St John, Mark; Taylor, Sara C; Krishnaswamy, Gokul; Milinovich, Alex; Aziz, Peter F; Pestana-Knight, Elia; Lal, Dennis

Development and Piloting of a Mental Health Prevention and Referral Program for Veterans and Their Families in Ukraine

在乌克兰开发和试点一项针对退伍军人及其家属的心理健康预防和转介计划

Nguyen, Amanda J; Russell, Tara; Skavenski, Stephanie; Bogdanov, Sergiy; Lomakina, Kira; Ivaniuk, Iryna; Aldridge, Luke R; Bolton, Paul; Murray, Laura; Bass, Judy

Is Initial Misdiagnosis Associated with Reaching Disability Milestones in Patients with Multiple Sclerosis?

初次误诊是否与多发性硬化症患者达到残疾里程碑有关?

Ivaniuk, Alina; Marusich, Tetiana; Solodovnikova, Yuliia; Son, Anatoliy