Nuclear paxillin functions as a molecular switch for alternative splicing in neurons during a critical period of brain development核paxillin在脑发育关键期神经元中作为选择性剪接的分子开关发挥作用EMBO JournalIF8.32025-09-090OAAI
SpliceAPP: an interactive web server to predict splicing errors arising from human mutationsBMC GENOMICSIF3.72024-06-151OAAI
Mechanism and modeling of human disease-associated near-exon intronic variants that perturb RNA splicingNATURE STRUCTURAL & MOLECULAR BIOLOGYIF10.12022-10-2710PRE
De novo mutation and skewed X-inactivation in girl withBCAP31-related syndromeHUMAN MUTATIONIF3.72020-07-227OAAI
Identification of functional single nucleotide polymorphisms in the branchpoint site分枝位点功能性单核苷酸多态性的鉴定HUMAN GENOMICSIF4.32017-11-0913OAAI
Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry diseaseMOLECULAR GENETICS AND METABOLISMIF3.52017-05-0110PREAI