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Kidney International|May 26, 2020
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndromeNan Yang, Nan Wu, Shuangshuang Dong, et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society|October 27, 2015
Association between ADAMTS-4 gene polymorphism and lumbar disc degeneration in Chinese Han populationSen Liu, Nan Wu, Jiaqi Liu, et al.
Journal of Cellular and Molecular Medicine|April 12, 2020
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalaciaNan Wu, Zhen Zhang, Xi Zhou, et al.
NPJ Genomic Medicine|February 16, 2022
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disordersSen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, et al.
Human Mutation|September 1, 2019
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance diseaseWeisheng Chen, Jiachen Lin, Lianlei Wang, et al.
Molecular Genetics & Genomic Medicine|November 28, 2019
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1Mao Lin, Zhenlei Liu, Gang Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2022
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndromeCongcong Ma, Na Chen, Angad Jolly, et al.
Elife|July 15, 2025
EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosisLianlei Wang, Xinyu Yang, Sen Zhao, et al.
NPJ Genomic Medicine|December 8, 2021
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalitiesVolkan Okur, Zefu Chen, Liesbeth Vossaert, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 26, 2024
Core planar cell polarity genes <i>VANGL1</i> and <i>VANGL2</i> in predisposition to congenital vertebral malformationsXin Feng, Yongyu Ye, Jianan Zhang, et al.
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