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

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

对智力障碍/自闭症基因测序中常用基因进行临床有效性评估

Riggs, Erin Rooney; Bingaman, Taylor I; Barry, Carrie-Ann; Behlmann, Andrea; Bluske, Krista; Bostwick, Bret; Bright, Alison; Chen, Chun-An; Clause, Amanda R; Dharmadhikari, Avinash V; Ganapathi, Mythily; Gonzaga-Jauregui, Claudia; Grant, Andrew R; Hughes, Madeline Y; Kim, Se Rin; Krause, Amanda; Liao, Jun; Lumaka, Aimé; Mah, Michelle; Maloney, Caitlin M; Mohan, Shruthi; Osei-Owusu, Ikeoluwa A; Reble, Emma; Rennie, Olivia; Savatt, Juliann M; Shimelis, Hermela; Siegert, Rebecca K; Sneddon, Tam P; Thaxton, Courtney; Toner, Kelly A; Tran, Kien Trung; Webb, Ryan; Wilcox, Emma H; Yin, Jiani; Zhuo, Xinming; Znidarsic, Masa; Martin, Christa Lese; Betancur, Catalina; Vorstman, Jacob A S; Miller, David T; Schaaf, Christian P

Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy

纳米孔长读长测序在肌营养不良症诊断中的能力

Bruels, Christine C; Littel, Hannah R; Daugherty, Audrey L; Stafki, Seth; Estrella, Elicia A; McGaughy, Emily S; Truong, Don; Badalamenti, Jonathan P; Pais, Lynn; Ganesh, Vijay S; O'Donnell-Luria, Anne; Stalker, Heather J; Wang, Yang; Collins, Christin; Behlmann, Andrea; Lemmers, Richard J L F; van der Maarel, Silvère M; Laine, Regina; Ghosh, Partha S; Darras, Basil T; Zingariello, Carla D; Pacak, Christina A; Kunkel, Louis M; Kang, Peter B

A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency

PGK1 缺乏症男性患者 PGK1 基因内的半合子缺失

Behlmann, Andrea Medrano; Goyal, Namita A; Yang, Xiaoyu; Chen, Ping H; Ankala, Arunkanth