Xuyun Hu

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Further defining the critical genes for the 4q21 microdeletion disorder

Yiping Shen, Xiaoli Chen, Bing-bing Wu, 2017, American journal of medical genetics. Part A.

Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).

Weiwei Guo, Tingting Yu, Jian Wang, 2019, European journal of medical genetics.

The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: functional consequences and clinical diversity.

Yiping Shen, Ling Li, Hongyan Wang, 2019, Clinica chimica acta; international journal of clinical chemistry.

CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia

Yiping Shen, Jun Shen, Xuyun Hu, 2019, Fetal and pediatric pathology.

A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.

Jun Shen, Niu Li, Xuyun Hu, 2019, European journal of medical genetics.

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism

Yiping Shen, Xuefan Gu, Xuyun Hu, 2016, Molecular and Cellular Endocrinology.

Whole Exome Sequencing for Non-selective Pediatric Patients with Hyperlipidemia.

Chanjuan Hao, C. Gong, Xuyun Hu, 2020, Gene.

Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy

Chanjuan Hao, Xuyun Hu, Wei Li, 2020, Pediatric investigation.

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3) The made this article openly available. Please share how this access benefits you. Your story matters

Yiping Shen, Xuyun Hu, Shaoke Chen, 2015 .

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)

Yiping Shen, Xuyun Hu, Shaoke Chen, 2014, Molecular Cytogenetics.

Novel pathogenic ACAN variants in non-syndromic short stature patients.

Yiping Shen, Tingting Yu, Jian Wang, 2017, Clinica chimica acta; international journal of clinical chemistry.

Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1

Yiping Shen, Jian Wang, Niu Li, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Development

Xuyun Hu, Yanyan Hu, Guimei Li, 2018, Fetal and pediatric pathology.

A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33.

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Gene.

Novel pathogenic variants in KIT gene in three Chinese piebaldism patients

Xuyun Hu, H. Xing, Chen Wang, 2022, Frontiers in Medicine.

RGS1 silencing inhibits the inflammatory response and angiogenesis in rheumatoid arthritis rats through the inactivation of Toll‐like receptor signaling pathway

Yongbo Tang, Jionglin Wu, W. Deng, 2019, Journal of cellular physiology.

Two Chinese Xia‐Gibbs syndrome patients with partial growth hormone deficiency

Yiping Shen, Yiyong Fu, Rong Xiang, 2019, Molecular genetics & genomic medicine.

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

Chanjuan Hao, Bao-Ping Xu, Xuyun Hu, 2019, Molecular Cytogenetics.

Targeting of the human F8 at the multicopy rDNA locus in Hemophilia A patient-derived iPSCs using TALENickases.

D. Liang, Mai Feng, Zhuo Li, 2016, Biochemical and biophysical research communications.

In situ genetic correction of F8 intron 22 inversion in hemophilia A patient-specific iPSCs

D. Liang, Mai Feng, Fangping Chen, 2016, Scientific Reports.

Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4

Chanjuan Hao, S. Qian, Xuyun Hu, 2021, Orphanet Journal of Rare Diseases.

Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.

Yiping Shen, C. Gong, Li-na Song, 2018, Gene.

Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants.

Zhan Qi, Chanjuan Hao, Xuyun Hu, 2022, Genetic testing and molecular biomarkers.

Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Clinica chimica acta; international journal of clinical chemistry.

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2016, Clinica chimica acta; international journal of clinical chemistry.

Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Xuefan Gu, Xuyun Hu, Shaoke Chen, 2016, BMJ Open.

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Yiping Shen, Xuyun Hu, Shaoke Chen, 2015, Archives of endocrinology and metabolism.

PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2015, Clinica chimica acta; international journal of clinical chemistry.

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

Zhan Qi, Chanjuan Hao, Xuyun Hu, 2020, Frontiers in Genetics.

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Molecular Cytogenetics.

Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.

Yiping Shen, Jian Wang, C. Gong, 2017, Clinica chimica acta; international journal of clinical chemistry.

Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience

Y. Wang, Yiping Shen, Tingting Yu, 2017, Genetics in Medicine.

Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study

Zhan Qi, Chanjuan Hao, Bao-Ping Xu, 2021, Human mutation.

Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

Yiping Shen, Cheng Zhang, Tingting Yu, 2017, Molecular Cytogenetics.

Newborn screening with targeted sequencing: A multi-center investigation and a pilot clinical study in China.

Zhan Qi, Chanjuan Hao, Yan Zhang, 2021, Journal of genetics and genomics = Yi chuan xue bao.

The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH

Xuyun Hu, Shaoke Chen, Jiasun Su, 2017, Endocrine connections.

Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant Classification.

Yiping Shen, Xuyun Hu, Shaoke Chen, 2015, Clinical chemistry.

Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China

Jun Liu, Zhan Qi, Chanjuan Hao, 2021, Frontiers in Genetics.

The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy

Yiping Shen, Di Wu, C. Gong, 2020, BMC Medical Genomics.

Silencing of Long Non-coding RNA HOTTIP Reduces Inflammation in Rheumatoid Arthritis by Demethylation of SFRP1

Yong Tang, Jionglin Wu, W. Deng, 2019, Molecular therapy. Nucleic acids.

MiR-27b Impairs Adipocyte Differentiation of Human Adipose Tissue-Derived Mesenchymal Stem Cells by Targeting LPL

Xuyun Hu, Jianhua Tang, Xumin Hu, 2018, Cellular Physiology and Biochemistry.

de novo interstitial deletions at the 11q23.3-q24.2 region

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Molecular Cytogenetics.

Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

Yiping Shen, Tingting Yu, Jian Wang, 2017, Molecular Cytogenetics.

Wiedemann-Steiner syndrome caused by novel mutation of KMT2A gene: one case report and literature review

Yiping Shen, Xuyun Hu, Xin Yuan, 2019 .

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

A. V. Vulto-van Silfhout, S. Mehta, Yiping Shen, 2023, Science advances.

A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy

Chanjuan Hao, S. Qian, Xuyun Hu, 2019, Molecular genetics & genomic medicine.

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

Chanjuan Hao, Bao-Ping Xu, Xuyun Hu, 2019, Molecular Cytogenetics.

Yiping Shen, Tingting Yu, Jian Wang, 2018, Genetics in Medicine.

The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy

Yiping Shen, Di Wu, C. Gong, 2020, BMC medical genomics.

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism

Yiping Shen, X. Fan, H. Zheng, 2015, Journal of Endocrinological Investigation.

Bioinformatical analysis identified significant genes in the PI3K-Akt signaling pathway relating with poor prognosis of skin cutaneous melanoma

Yunlan Zhang, Xuyun Hu, X. Hu, 2020, medRxiv.

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2017, Clinica chimica acta; international journal of clinical chemistry.

Effect of integrated medical and nursing intervention model on quality of life and unhealthy emotion of patients with esophageal cancer undergoing radiotherapy.

Xuyun Hu, Zheng-ying Wang, Yuqiao Cheng, 2021, American journal of translational research.

TALE nickase mediates high efficient targeted transgene integration at the human multi-copy ribosomal DNA locus.

Desheng Liang, Zhiqing Hu, Lingqian Wu, 2014, Biochemical and biophysical research communications.

[Application of SNP-array technology in the genetic analysis of pediatric patients with growth retardation].

Xuyun Hu, Shaoke Chen, S. Luo, 2017, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.