Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.
深层组织测序可提高局灶性皮质发育不良的基因诊断率。
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doi:10.1101/2025.11.17.25340194
Galea Breana, Reid Joshua, Gooley Samuel, Witkowski Tom, Lane Tara, Macdonald Sian, Green Timothy E, Ye Zimeng, Adikari Thiuni, Bulluss Kristian, Mullen Saul A, Bennett Caitlin A, Forster Brialie, Bradshaw Gabi, Lin Wendi, De Silva Wasanthi, Ramirez Rosita B, Khoshkhoo Sattar, Gupta Sachin, Krivanek Michael, Kothur Kavitha, Gill Deepak, Pope Kate, Gillies Greta, Coleman Matthew, Lee Wei-Shern, Stephenson Sarah M, Maixner Wirginia, Harvey A Simon, Macdonald-Laurs Emma, Howell Katherine B, D'Arcy Colleen, Lockhart Paul J, Leventer Richard J, Kalnins Renata M, Clark Jonathan, Bennett Mark F, Bahlo Melanie, Scheffer Ingrid E, Perucca Piero, Berkovic Samuel F, Hildebrand Michael S