Publications by authors named "BoBo Xie"

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Corrigendum to 'Clinical validation and application of targeted long-range PCR and long-read sequencing-based analysis for haemophilia: experience from a haemophilia treatment centre in China': [JTHA, Volume 22, Issue 12, December 2024, Pages 3431-3447].
Meizhen Shi, Yunting Ma, Xianwei Peng, Xu Zhou, Zifeng Cheng, Bobo Xie

J Thromb Haemost· September 2025

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Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Yiyun Huang, Yan Peng, Chuan Li, Bobo Xie, Xianda Wei

Sci Rep· July 2025

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Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing-based analysis for hemophilia: experience from a hemophilia treatment center in China.
Meizhen Shi, Yunting Ma, Xianwei Peng, Xu Zhou, Zifeng Cheng, Bobo Xie

J Thromb Haemost· December 2024

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The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.
Yunting Ma, Chunrong Gui, Meizhen Shi, Lilin Wei, Junfang He, Bobo Xie

Hum Genomics· September 2024

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Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.
Xiaojiao Wei, Yunting Ma, Bobo Xie, Chunrong Gui, Meizhen Shi

BMC Med Genomics· May 2024

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[Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].
Bobo Xie, Xin Fan, Xianda Wei, Baoheng Gui, Xiaojiao Wei

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· February 2024

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Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.
Xianda Wei, Xu Zhou, BoBo Xie, Meizhen Shi, Chunrong Gui

Front Genet· December 2023

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Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.
Yunting Lin, Xiaohong Chen, Bobo Xie, Zhihong Guan, Xiaodan Chen

Front Genet· March 2023

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Case report: A novel heterozygous synonymous variant in deep exon region of gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome.
Meizhen Shi, Yuying Liang, Bobo Xie, Xianda Wei, Haiyang Zheng

Front Genet· November 2022

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Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.
Xianda Wei, Guori Huang, Baoheng Gui, Bobo Xie, Shaoke Chen

Mol Genet Genomic Med· April 2022

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Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.
Chenxi Yu, Bobo Xie, Zhengye Zhao, Sen Zhao, Lian Liu

Front Endocrinol (Lausanne)· February 2022

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CNV profiles of Chinese pediatric patients with developmental disorders.
Haiming Yuan, Shaofang Shangguan, Zhengchang Li, Jingsi Luo, Jiasun Su, Hua Xie, Bobo Xie

Genet Med· April 2021

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Heterozygous Recurrent Mutations Inducing Dysfunction of Gene in Patients With Short Stature.
Baoheng Gui, Chenxi Yu, Xiaoxin Li, Sen Zhao, Hengqiang Zhao, Bobo Xie

Front Cell Dev Biol· April 2021

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Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.
Bobo Xie, Xin Fan, Yaqin Lei, Shang Yi, Qi Yang

Mol Med Rep· June 2020

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Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.
Weiliang Lu, Mingxing Liang, Jiasun Su, Jin Wang, Lingxiao Li, BoBo Xie

Mol Genet Genomic Med· May 2020

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[Clinical practice guidelines for Prader-Willi syndrome].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Chuan Li, Bobo Xie, Yiping Shen, Feihong Luo

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· March 2020

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Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.
Jiasun Su, Huayu Fu, Bobo Xie, Weiliang Lu, Wei Li

Mol Cytogenet· December 2019

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Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases.
Dahua Meng, Qifei Li, Xuehua Hu, Lifang Wang, Shuyin Tan, Bobo Xie

Sci Rep· July 2019

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Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
Qi Yang, Sheng Yi, Mengting Li, Bobo Xie, Jinsi Luo

BMC Med Genet· June 2019

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Genomic structure, expression, and functional characterization of checkpoint kinase 1 from Penaeus monodon.
Lihua Qiu, Chao Zhao, Pengfei Wang, Sigang Fan, Lulu Yan, Bobo Xie

PLoS One· December 2018

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Two novel pathogenic variants of L1CAM gene in two fetuses with isolated X‑linked hydrocephaly: A case report.
Bobo Xie, Jingsi Luo, Yaqin Lei, Qi Yang, Mengting Li

Mol Med Rep· December 2018

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Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound.
Shiyu Luo, Dahua Meng, Qifei Li, Xuehua Hu, Yuhua Chen, Bobo Xie

Arq Bras Cardiol· October 2018

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Novel mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Xin Fan, Bobo Xie, Jun Zou, Jingsi Luo, Zailong Qin

Mol Genet Metab Rep· September 2018

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Germline Duplication of SNORA18L5 Increases Risk for HBV-related Hepatocellular Carcinoma by Altering Localization of Ribosomal Proteins and Decreasing Levels of p53.
Pengbo Cao, Aiqing Yang, Rui Wang, Xia Xia, Yun Zhai, Weimin Xie, Bobo Xie

Gastroenterology· August 2018

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A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1.
Qi Yang, Hong Xu, Jinsi Luo, Qinle Zhang, Bobo Xie

Mol Med Rep· March 2018

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