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

Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research

释放多学科诊所的潜力,以变革罕见癫痫的治疗、见解和研究

Bakhos, Carole; Delagrammatikas, Christal G; Demarest, Scott; DeWoody, Yssa; Dyer, Tuesdi; Miller, Ilene Penn; Moore, Amanda; Point, Ashley Fortney; Rigby, Charlene Son; Steinberg, Jackie; Vogel-Farley, Vanessa; Wiltrout, Kimberly

The Research Visit of the Future: an academic-industry model for telehealth, electronic clinical outcomes assessments, and Decentralized Clinical Trials (DCTs)

未来科研访问:远程医疗、电子临床结果评估和分散式临床试验(DCT)的产学研合作模式

Goodson, Noah; Wiltrout, Christopher; Warren, Joss; Reis, Steven; Massart, Mylynda

High-throughput imaging of GABA fluorescence as a functional assay for variants in the neurodevelopmental gene, SLC6A1

利用高通量成像技术检测GABA荧光,作为神经发育基因SLC6A1变异体的功能性检测方法

McGraw, Christopher Michael; Zhang, Guoqi; Prinzing, Gillian; Wiltrout, Kimberly; Poduri, Annapurna

Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism

对SYNGAP1相关疾病患者的全面表型分析显示,癫痫和自闭症的发生率很高。

Wiltrout, Kimberly; Brimble, Elise; Poduri, Annapurna

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

共识报告指南旨在弥补对超罕见遗传疾病描述方面的不足

AlMail, Ali; Jamjoom, Ahmed; Pan, Amy; Feng, Min Yi; Chau, Vann; D'Gama, Alissa M; Howell, Katherine; Liang, Nicole S Y; McTague, Amy; Poduri, Annapurna; Wiltrout, Kimberly; Bassett, Anne S; Christodoulou, John; Dupuis, Lucie; Gill, Peter; Levy, Tess; Siper, Paige; Stark, Zornitza; Vorstman, Jacob A S; Diskin, Catherine; Jewitt, Natalie; Baribeau, Danielle; Costain, Gregory

The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome

ARX相关癫痫-运动障碍综合征患儿的运动障碍谱

Akula, Shyam K; Quiroz, Vicente; D'Gama, Alissa M; Chiu, Michelle Y; Koh, Hyun Yong; Saffari, Afshin; Zaman, Zainab; Tam, Amy; Srouji, Rasha; Valentine, Rozalia; Wiltrout, Kimberly; Pinto, Anna; Harini, Chellamani; Pearl, Phillip L; Poduri, Annapurna; Ebrahimi-Fakhari, Darius

CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and Phenotype

CIC相关神经发育障碍:文献综述及基因型和表型扩展

Ruiz, Ivan; Wiltrout, Kimberly; Stredny, Coral; Mahida, Sonal

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

评估快速基因组测序在婴儿癫痫诊断中的可行性、诊断率和临床应用价值(Gene-STEPS):一项国际多中心试点队列研究

D'Gama, Alissa M; Mulhern, Sarah; Sheidley, Beth R; Boodhoo, Fadil; Buts, Sarah; Chandler, Natalie J; Cobb, Joanna; Curtis, Meredith; Higginbotham, Edward J; Holland, Jonathon; Khan, Tayyaba; Koh, Julia; Liang, Nicole S Y; McRae, Lyndsey; Nesbitt, Sarah E; Oby, Brandon T; Paternoster, Ben; Patton, Alistair; Rose, Graham; Scotchman, Elizabeth; Valentine, Rozalia; Wiltrout, Kimberly N; Hayeems, Robin Z; Jain, Puneet; Lunke, Sebastian; Marshall, Christian R; Rockowitz, Shira; Sebire, Neil J; Stark, Zornitza; White, Susan M; Chitty, Lyn S; Cross, J Helen; Scheffer, Ingrid E; Chau, Vann; Costain, Gregory; Poduri, Annapurna; Howell, Katherine B; McTague, Amy

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

外显子组测序在不明原因儿童期癫痫诊断中的应用

Koh, Hyun Yong; Smith, Lacey; Wiltrout, Kimberly N; Podury, Archana; Chourasia, Nitish; D'Gama, Alissa M; Park, Meredith; Knight, Devon; Sexton, Emma L; Koh, Julia J; Oby, Brandon; Pinsky, Rebecca; Shao, Diane D; French, Courtney E; Shao, Wanqing; Rockowitz, Shira; Sliz, Piotr; Zhang, Bo; Mahida, Sonal; Moufawad El Achkar, Christelle; Yuskaitis, Christopher J; Olson, Heather E; Sheidley, Beth Rosen; Poduri, Annapurna H

Variants in DOCK3 cause developmental delay and hypotonia

DOCK3基因变异会导致发育迟缓和肌张力低下。

Kimberly Wiltrout,Alejandro Ferrer,Ingrid van de Laar,Kazuhiko Namekata,Takayuki Harada,Eric W Klee,Michael T Zimmerman,Margot A Cousin,Jennifer L Kempainen,Dusica Babovic-Vuksanovic,Marjon A van Slegtenhorst,Coranne D Aarts-Tesselaar,Rhonda E Schnur,Marisa Andrews,Marwan Shinawi