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

Early genetic testing in pediatric epilepsy: Diagnostic and cost implications

儿童癫痫早期基因检测:诊断和成本影响

Swartwood, Shanna M; Morales, Ana; Hatchell, Kathryn E; Moretz, Chad; McKnight, Dianalee; Demmer, Laurie; Chagnon, Sarah; Aradhya, Swaroop; Esplin, Edward D; Bonkowsky, Joshua L

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

遗传疾病基因检测中意义未明变异的发生率和分类

Chen, Elaine; Facio, Flavia M; Aradhya, Kerry W; Rojahn, Susan; Hatchell, Kathryn E; Aguilar, Sienna; Ouyang, Karen; Saitta, Sulagna; Hanson-Kwan, Andrea K; Capurro, Nicole Nakousi; Takamine, Eriko; Jamuar, Saumya Shekhar; McKnight, Dianalee; Johnson, Britt; Aradhya, Swaroop

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

多基因检测和基因组检测中报告的意义未明变异(VUS)现状:是时候改变了

Rehm, Heidi L; Alaimo, Joseph T; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G; Chao, Elizabeth C; Chen, Elaine; Clifford, Jacob; Cohen, Ana S A; Conlin, Laura K; Das, Soma; Davis, Kyle W; Del Gaudio, Daniela; Del Viso, Florencia; DiVincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B; Harrison, Steven M; Hatchell, Kathryn E; Dyer, Lindsay Havens; Hoang, Lily U; Holt, James M; Jobanputra, Vaidehi; Karbassi, Izabela D; Kearney, Hutton M; Kelly, Melissa A; Kelly, Jacob M; Kluge, Michelle L; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S; Marshall, Christian R; McKnight, Dianalee; McWalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K; Paolucci, Sarah A; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J; Retterer, Kyle; Saunders, Carol J; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J; Thiffault, Isabelle; Thomas, Brittany C; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J; Towne, Meghan C; Zouk, Hana

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

基因检测在指导癫痫治疗管理中的应用:一项国际临床实践研究

McKnight, Dianalee; Morales, Ana; Hatchell, Kathryn E; Bristow, Sara L; Bonkowsky, Joshua L; Perry, Michael Scott; Berg, Anne T; Borlot, Felippe; Esplin, Edward D; Moretz, Chad; Angione, Katie; Ríos-Pohl, Loreto; Nussbaum, Robert L; Aradhya, Swaroop; Haldeman-Englert, Chad R; Levy, Rebecca J; Parachuri, Venu G; Lay-Son, Guillermo; de Montellano, David J Dávila-Ortiz; Ramirez-Garcia, Miguel Angel; Benítez Alonso, Edmar O; Ziobro, Julie; Chirita-Emandi, Adela; Felix, Temis M; Kulasa-Luke, Dianne; Megarbane, Andre; Karkare, Shefali; Chagnon, Sarah L; Humberson, Jennifer B; Assaf, Melissa J; Silva, Sebastian; Zarroli, Katherine; Boyarchuk, Oksana; Nelson, Gary R; Palmquist, Rachel; Hammond, Katherine C; Hwang, Sean T; Boutlier, Susan B; Nolan, Melinda; Batley, Kaitlin Y; Chavda, Devraj; Reyes-Silva, Carlos Alberto; Miroshnikov, Oleksandr; Zuccarelli, Britton; Amlie-Wolf, Louise; Wheless, James W; Seinfeld, Syndi; Kanhangad, Manoj; Freeman, Jeremy L; Monroy-Santoyo, Susana; Rodriguez-Vazquez, Natalia; Ryan, Monique M; Machie, Michelle; Guerra, Patricio; Hassan, Muhammad Jawad; Candee, Meghan S; Bupp, Caleb P; Park, Kristen L; Muller, Eric 2nd; Lupo, Pamela; Pedersen, Robert C; Arain, Amir M; Murphy, Andrea; Schatz, Krista; Mu, Weiyi; Kalika, Paige M; Plaza, Lautaro; Kellogg, Marissa A; Lora, Evelyn G; Carson, Robert P; Svystilnyk, Victoria; Venegas, Viviana; Luke, Rebecca R; Jiang, Huiyuan; Stetsenko, Tetiana; Dueñas-Roque, Milagros M; Trasmonte, Joseph; Burke, Rebecca J; Hurst, Anna C E; Smith, Douglas M; Massingham, Lauren J; Pisani, Laura; Costin, Carrie E; Ostrander, Betsy; Filloux, Francis M; Ananth, Amitha L; Mohamed, Ismail S; Nechai, Alla; Dao, Jasmin M; Fahey, Michael C; Aliu, Ermal; Falchek, Stephen; Press, Craig A; Treat, Lauren; Eschbach, Krista; Starks, Angela; Kammeyer, Ryan; Bear, Joshua J; Jacobson, Mona; Chernuha, Veronika; Meibos, Bailey; Wong, Kristen; Sweney, Matthew T; Espinoza, A Chris; Van Orman, Colin B; Weinstock, Arie; Kumar, Ashutosh; Soler-Alfonso, Claudia; Nolan, Danielle A; Raza, Muhammad; Rojas Carrion, Miguel David; Chari, Geetha; Marsh, Eric D; Shiloh-Malawsky, Yael; Parikh, Sumit; Gonzalez-Giraldo, Ernesto; Fulton, Stephen; Sogawa, Yoshimi; Burns, Kaitlyn; Malets, Myroslava; Montiel Blanco, Johnny David; Habela, Christa W; Wilson, Carey A; Guzmán, Guillermo G; Pavliuk, Mariia

Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

基因检测在儿童癫痫诊断中的价值:促进2型蜡样脂褐质沉积症(巴顿病)的早期诊断

Leal-Pardinas, Fernanda; Truty, Rebecca; McKnight, Dianalee A; Johnson, Britt; Morales, Ana; Bristow, Sara L; Yar Pang, Tiffany; Cohen-Pfeffer, Jessica; Izzo, Emanuela; Sankar, Raman; Koh, Sookyong; Wirrell, Elaine C; Millichap, John J; Aradhya, Swaroop

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

对癫痫相关 KCNQ2 变异的高通量评估揭示了功能和药理学异质性

Carlos G Vanoye, Reshma R Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L Helbig, Dianalee McKnight, Amanda S Lindy, Fanggeng Zou, Ingo Helbig, Edward C Cooper, Alfred L George Jr

Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods

ClinGen Rett/Angelman样专家组关于基因特异性变异解读方法的建议

McKnight, Dianalee; Bean, Lora; Karbassi, Izabela; Beattie, Katelynn; Bienvenu, Thierry; Bonin, Hope; Fang, Ping; Chrisodoulou, John; Friez, Michael; Helgeson, Maria; Krishnaraj, Rahul; Meng, Linyan; Mighion, Lindsey; Neul, Jeffrey; Percy, Alan; Ramsden, Simon; Zoghbi, Huda; Das, Soma

Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings

在大样本成人癫痫患者队列中进行多基因检测:诊断率和临床可操作的遗传学发现

McKnight, Dianalee; Bristow, Sara L; Truty, Rebecca M; Morales, Ana; Stetler, Molly; Westbrook, M Jody; Robinson, Kristina; Riethmaier, Darlene; Borlot, Felippe; Kellogg, Marissa; Hwang, Sean T; Berg, Anne; Aradhya, Swaroop

Current knowledge of SLC6A1-related neurodevelopmental disorders

目前对SLC6A1相关神经发育障碍的认识

Goodspeed, Kimberly; Pérez-Palma, Eduardo; Iqbal, Sumaiya; Cooper, Dominique; Scimemi, Annalisa; Johannesen, Katrine M; Stefanski, Arthur; Demarest, Scott; Helbig, Katherine L; Kang, Jingqiong; Shaffo, Frances C; Prentice, Brandon; Brownstein, Catherine A; Lim, Byungchan; Helbig, Ingo; De Los Reyes, Emily; McKnight, Dianalee; Crunelli, Vincenzo; Campbell, Arthur J; Møller, Rikke S; Freed, Amber; Lal, Dennis

Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders

KCNB1 相关神经发育障碍中的 KV 2.1 功能障碍谱

Seok Kyu Kang, Carlos G Vanoye, Sunita N Misra, Dennis M Echevarria, Jeffrey D Calhoun, John B O'Connor, Katarina L Fabre, Dianalee McKnight, Laurie Demmer, Paula Goldenberg, Lauren E Grote, Isabelle Thiffault, Carol Saunders, Kevin A Strauss, Ali Torkamani, Jasper van der Smagt, Koen van Gassen, Ro