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

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。

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

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1

MBD基因在自闭症中的作用日益凸显:MECP2重复的发现以及MBD5、MBD6和SETDB1的新改变

Cukier, Holly N; Lee, Joycelyn M; Ma, Deqiong; Young, Juan I; Mayo, Vera; Butler, Brittany L; Ramsook, Sandhya S; Rantus, Joseph A; Abrams, Alexander J; Whitehead, Patrice L; Wright, Harry H; Abramson, Ruth K; Haines, Jonathan L; Cuccaro, Michael L; Pericak-Vance, Margaret A; Gilbert, John R