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NPJ Genomic Medicine|February 16, 2022
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disordersSen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, 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.American Journal of Human Genetics|January 12, 2021
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndromeNa Chen, Sen Zhao, Angad Jolly, et al.Journal of Medical Genetics|May 9, 2020
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)Sen Zhao, Yuanqiang Zhang, Weisheng Chen, et al.Pageof 4