CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
CAGI6 ID 检测组挑战:对 415 名患有神经发育障碍 (NDD) 的儿童进行表型和变异预测评估
期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-024-02722-w
Aspromonte, Maria Cristina; Del Conte, Alessio; Zhu, Shaowen; Tan, Wuwei; Shen, Yang; Zhang, Yexian; Li, Qi; Wang, Maggie Haitian; Babbi, Giulia; Bovo, Samuele; Martelli, Pier Luigi; Casadio, Rita; Althagafi, Azza; Toonsi, Sumyyah; Kulmanov, Maxat; Hoehndorf, Robert; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Xian, Su; Surento, Wesley; Pejaver, Vikas; Mooney, Sean D; Sunderam, Uma; Srinivasan, Rajgopal; Murgia, Alessandra; Piovesan, Damiano; Tosatto, Silvio C E; Leonardi, Emanuela