Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants
对病例对照队列中自闭症谱系障碍相关基因进行靶向大规模平行测序,揭示了罕见的失功能风险变异。
期刊:Molecular Autism
影响因子:5.5
doi:10.1186/s13229-015-0034-z
Griswold, Anthony J; Dueker, Nicole D; Van Booven, Derek; Rantus, Joseph A; Jaworski, James M; Slifer, Susan H; Schmidt, Michael A; Hulme, William; Konidari, Ioanna; Whitehead, Patrice L; Cuccaro, Michael L; Martin, Eden R; Haines, Jonathan L; Gilbert, John R; Hussman, John P; Pericak-Vance, Margaret A