Yanjie Fan
XinHua Hospital(CN)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Metabolism and Genetic Disorders, RNA modifications and cancer
Most-Cited Works
- → ADF/cofilin-mediated actin dynamics regulate AMPA receptor trafficking during synaptic plasticity(2010)329 cited
- → Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration(2018)172 cited
- → Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder(2018)57 cited
- → Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development(2017)57 cited
- → Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann–Steiner syndrome(2016)47 cited
- → Marked yield of re‐evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities(2017)44 cited
- → Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study(2018)41 cited
- → Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions(2018)38 cited
- → A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes(2020)36 cited
- → De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature(2015)33 cited