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Frontiers in Genetics|April 1, 2022
Identification of Novel <i>FBN2</i> Variants in a Cohort of Congenital Contractural ArachnodactylyLiying Sun, Yingzhao Huang, Sen Zhao, et al.Orphanet Journal of Rare Diseases|October 15, 2020
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variantsWen Tian, Yingzhao Huang, Liying Sun, et al.Journal of Medical Genetics|January 1, 2020
Increased <i>TBX6</i> gene dosages induce congenital cervical vertebral malformations in humans and miceXiaojun Ren, Nan Yang, Nan Wu, et al.Journal of Human Genetics|January 13, 2022
A genotype-first analysis in a cohort of Mullerian anomalyWeijie Tian, Na Chen, Yang Ye, et al.Medical Science Monitor : International Medical Journal of Experimental and Clinical Research|March 29, 2020
Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional StudyLianlei Wang, Yuanqiang Zhang, Sen Zhao, et al.Molecular Therapy. Nucleic Acids|June 7, 2021
Deciphering the mutational signature of congenital limb malformationsLiying Sun, Yingzhao Huang, Sen Zhao, et al.Journal of Cellular and Molecular Medicine|September 26, 2017
Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolismQiankun Zhu, Nan Wu, Gang Liu, et al.American Journal of Medical Genetics. Part A|May 6, 2020
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformationsNoura Al Dhaheri, Nan Wu, Sen Zhao, et al.Rheumatology (Oxford, England)|February 27, 2016
Synovitis, acne, pustulosis, hyperostosis and osteitis syndrome: a single centre study of a cohort of 164 patientsChen Li, Yuzhi Zuo, Nan Wu, et al.Proceedings of the National Academy of Sciences of the United States of America|January 24, 2025
Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosisLianlei Wang, Zhaoyang Liu, Sen Zhao, et al.Pageof 24