| TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene … J Liu, N Wu, ... Genetics in Medicine 21 (7), 1548-1558, 2019 | 70 | 2019 |
| Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM) K Wang, S Zhao, B Liu, Q Zhang, Y Li, J Liu, Y Shen, X Ding, J Lin, Y Wu, ... Journal of medical genetics 55 (10), 675-684, 2018 | 65 | 2018 |
| Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome N Chen, S Zhao, A Jolly, L Wang, H Pan, J Yuan, S Chen, A Koch, C Ma, ... The American Journal of Human Genetics 108 (2), 337-345, 2021 | 60 | 2021 |
| Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) S Zhao, Y Zhang, W Chen, W Li, S Wang, L Wang, Y Zhao, M Lin, Y Ye, ... Journal of medical genetics 58 (1), 41-47, 2021 | 48 | 2021 |
| An ultra-sensitive assay using cell-free DNA fragmentomics for multi-cancer early detection H Bao, Z Wang, X Ma, W Guo, X Zhang, W Tang, X Chen, X Wang, ... Molecular cancer 21 (1), 1-7, 2022 | 46 | 2022 |
| Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature X Fan, S Zhao, C Yu, D Wu, Z Yan, L Fan, Y Song, Y Wang, C Li, Y Ming, ... Journal of Genetics and Genomics 48 (5), 396-402, 2021 | 32 | 2021 |
| Circular RNA as a potential biomarker for melanoma: a systematic review K Tang, H Zhang, Y Li, Q Sun, H Jin Frontiers in Cell and Developmental Biology 9, 638548, 2021 | 21 | 2021 |
| Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders S Zhao, Y Zhang, S Hallgrimsdottir, Y Zuo, X Li, D Batkovskyte, S Liu, ... NPJ genomic medicine 7 (1), 11, 2022 | 17 | 2022 |
| A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations. N Wu, L Wang, J Hu, S Zhao, B Liu, Y Li, H Du, Y Zhang, X Li, Z Yan, ... Current Gene Therapy 19 (4), 242-247, 2019 | 11 | 2019 |
| Deciphering the mutational signature of congenital limb malformations L Sun, Y Huang, S Zhao, J Zhao, Z Yan, Y Guo, M Lin, W Zhong, Y Yin, ... Molecular Therapy-Nucleic Acids 24, 961-970, 2021 | 9 | 2021 |
| Mutational burden and potential oligogenic model of TBX6‐mediated genes in congenital scoliosis Y Yang, S Zhao, Y Zhang, S Wang, J Shao, B Liu, Y Li, Z Yan, Y Niu, X Li, ... Molecular Genetics & Genomic Medicine 8 (10), e1453, 2020 | 8 | 2020 |
| SIGMA leverages protein structural information to predict the pathogenicity of missense variants H Zhao, H Du, S Zhao, Z Chen, Y Li, K Xu, B Liu, X Cheng, W Wen, G Li, ... Cell Reports Methods 4 (1), 2024 | 4 | 2024 |
| The utility of hierarchical genetic testing in paediatric liver disease F Wang, Y Li, S Zhao, Z Chen, Z Xu, L Wang, TJ Zhang, J Yan, L Cao, ... Liver International 42 (5), 1097-1108, 2022 | 3 | 2022 |
| Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis Z Chen, Z Yan, C Yu, J Liu, Y Zhang, S Zhao, J Lin, Y Zhang, L Wang, ... Orphanet Journal of Rare Diseases 15, 1-9, 2020 | 3 | 2020 |
