Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern ChinaSheng He, Hongwei Wei, Lin Li et al.|Frontiers in Pediatrics|2021Cited by 16
Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the <scp><i>ROBO3</i></scp> geneSheng Yi, Jingsi Luo, Biyan Chen et al.|Molecular Genetics & Genomic Medicine|2023Cited by 6
De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and EndocrinopathySheng Yi, Jingsi Luo, Mengting Li et al.|Journal of Molecular Neuroscience|2022Cited by 2
Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patientsQi Yang, Jingsi Luo, Xunzhao Zhou et al.|Frontiers in Pediatrics|2024Cited by 2