Publications by authors named "Guozhuang Li"

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Deep insights and clinical benefits from the comprehensive cohort of fetal skeletal dysplasia in China.
Guozhuang Li, Kexin Xu, Jihao Cai, Yulin Jiang, Xiya Zhou, Qing Li, Lina Zhao

J Genet Genomics· December 2025

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The Smallest Worthwhile Effect as a Promising Alternative to the MCID in Estimating PROMs for Adult Idiopathic Scoliosis.
Di Liu, Zhengye Zhao, Guozhuang Li, Xiangjie Yin, Yuanpeng Zhu, Ze Liu

J Bone Joint Surg Am· September 2025

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Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 -Related Disorders: Clinical Experience and Literature Review.
Aoran Maheshati, Kexin Xu, Ziquan Li, Guozhuang Li, Xiangjie Yin, Qing Li, Di Liu

Orthop Surg· July 2025

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Chromoanagenesis in Osteosarcoma.
Guozhuang Li, Nan Wu, Jen Ghabrial, Victoria Stinnett, Melanie Klausner

Biomolecules· June 2025

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Shaping the future of care for patients with Ehlers-Danlos syndromes: from multidisciplinary management to precision medicine.
Kexin Xu, Guozhuang Li, Terry Jianguo Zhang, Nan Wu

Orphanet J Rare Dis· March 2025

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Expert consensus on clinical genome sequencing interpretation and reporting.
Yulan Lu, Guozhuang Li, Yaqiong Wang, Kexin Xu, Xinran Dong, Qing Li, Yaping Liu, Li Liu, Ning Liu, Jiaqi Liu, Lin Yang, Linkang Li

Yi Chuan· March 2025

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First copy number variant in trans with single nucleotide variant in CCN6 causing progressive pseudorheumatoid dysplasia revealed by genome sequencing and deep phenotyping in monozygotic twins.
Kexin Xu, Guozhuang Li, Yuchen Niu, Zhihong Wu,

Am J Med Genet A· November 2024

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Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases.
Guozhuang Li, Kexin Xu, Xiangjie Yin, Jianle Yang, Jihao Cai, Qing Li

Orphanet J Rare Dis· October 2024

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Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines.
Kexin Xu, Guozhuang Li, Zhihong Wu, Terry Jianguo Zhang, Nan Wu

Orphanet J Rare Dis· May 2024

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Core planar cell polarity genes and in predisposition to congenital vertebral malformations.
Xin Feng, Yongyu Ye, Jianan Zhang, Yuanqiang Zhang, Sen Zhao, Guozhuang Li, Mao Lin, Xiaoxin Li, Ziquan Li, Pik Shan Li, Xiaochen Lin

Proc Natl Acad Sci U S A· April 2024

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Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Sen Zhao, Hengqiang Zhao, Lina Zhao, Xi Cheng, Zhifa Zheng, Qing Li, Xinquan Liu, Guozhuang Li, Guilin Chen, Pengfei Liu, Wanlu Liu

Nat Commun· February 2024

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SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Hengqiang Zhao, Huakang Du, Sen Zhao, Zefu Chen, Yaqi Li, Bowen Liu, Guozhuang Li, Guilin Chen, Pengfei Liu

Cell Rep Methods· January 2024

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COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Denise Rebello, Elizabeth Wohler, Vida Erfani, Guozhuang Li, Alexya N Aguilera, Philip F Giampietro

Hum Mol Genet· September 2023

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Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Fang Liu, Chen Liang, Zhengchang Li, Sen Zhao, Haiming Yuan, Li-Ping Zou, Guozhuang Li, Hailiang Huang, Ruize Liu, Chunyu Liu, Xiaoli Chen

Brain· August 2023

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Retrospective Analysis of Associated Anomalies in 636 Patients with Operatively Treated Congenital Scoliosis.
Nan Wu, Lian Liu, Yuanqiang Zhang, Lianlei Wang, Shengru Wang, Guozhuang Li, Guanfeng Lin

J Bone Joint Surg Am· April 2023

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TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
Guozhuang Li, Alanna Strong, Haojun Wang, Ji-Sun Kim, Deborah Watson, Philip F Giampietro

Am J Med Genet A· December 2022

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Identification of chemical constituents in vitro and in vivo of Er Shen Zhenwu Decoction by utilizing ultra-high-performance liquid chromatography with quadrupole time-of-flight mass spectrometry.
Li-Li Hong, Yan Zhao, Chen-Yu Yang, Guo-Zhuang Li, Hong-Song Wang, Li Liu

J Sep Sci· December 2021

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[The changes and significance of T lymphocytes and subsets before and after receiving highly active anti-retroviral therapy in children infected with HIV or AIDS patients].
Jian-jun Li, Wei Liu, Zhi-rong Tang, Fu-xiong Liang, Chong-xing Zhou, Shu-jia Liang, Guo-zhuang Li

Zhonghua Yu Fang Yi Xue Za Zhi· November 2010

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