[1]中国遗传性神经性肌强直家系调查和遗传学特征分析 [2]Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia [3]Comparative analysis of the autism-related variants between different autistic children in a family pedigree [4]Application of whole exome sequencing in undiagnosed inherited polyneuropathies [5]毛囊闭锁性三联征一例及家系分析 [6]Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma [7]Case Report: Exome Sequencing Identified Variants in Three Candidate Genes From Two Families With Hearing Loss, Onychodystrophy, and Epilepsy [8]The identification of novel gene mutations for degenerative lumbar spinal stenosis using whole-exome sequencing in a Chinese cohort [9]Identification of a low frequency missense mutation in MUC6 contributing to pulmonary artery hypertension by whole-exome sequencing [10]The mutational landscape of medullary thyroid carcinoma using whole-exome sequencing in China