B. Xie

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Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases

P. Agrawal, Shaoke Chen, S. Luo, 2019, Scientific Reports.

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

Yiping Shen, Z. Qin, Jiasun Su, 2019, Molecular genetics & genomic medicine.

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism

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

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

Yiping Shen, Shaoke Chen, Shang Yi, 2016, Molecular Cytogenetics.

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.

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.

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates

Shaoke Chen, S. Luo, Z. Qin, 2018, Scientific Reports.

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism

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

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Z. Qin, Jiasun Su, Weiliang Lu, 2019, Molecular Cytogenetics.

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

Z. Qin, Qinle Zhang, Mengting Li, 2019, BMC Medical Genetics.

A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1

Z. Qin, Qinle Zhang, Qi Yang, 2018, Molecular medicine reports.

Comprehensive assessment showed no associations of variants at the SLC10A1 locus with susceptibility to persistent HBV infection among Southern Chinese

Hongbing Shen, Zhibin Hu, F. He, 2017, Scientific Reports.

Genome-wide association study identiﬁes 8p21.3 associated with persistent hepatitis B virus infection among Chinese

Hongbing Shen, Zhibin Hu, Weihua Jia, 2022 .

Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature

Zhihong Wu, Hengqiang Zhao, N. Wu, 2021, Frontiers in Cell and Developmental Biology.

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.

CNV profiles of Chinese pediatric patients with developmental disorders

Yiping Shen, J. Gusella, Xiao Chen, 2021, Genetics in Medicine.

CNV profiles of Chinese pediatric patients with developmental disorders

Yiping Shen, J. Gusella, Jian Wang, 2021, Genetics in Medicine.

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

Yiping Shen, Shaoke Chen, Shang Yi, 2016, Molecular Cytogenetics.

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome

Yuying Liang, Shaoke Chen, B. Gui, 2022, Frontiers in Genetics.

Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients

Zhihong Wu, Hengqiang Zhao, N. Wu, 2021, Frontiers in Endocrinology.

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.

Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family

Shaoke Chen, B. Gui, B. Xie, 2022, Molecular genetics & genomic medicine.

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipodystrophy

Yiping Shen, Z. Qin, Shang Yi, 2020, Molecular medicine reports.

Emerging SARS-CoV-2 mutation hotspots associated with clinical outcomes

Lei Yu, Z. Mo, Yinfeng Wei, 2021, bioRxiv.

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.

[ASS1 gene mutation in a neonate with citrullinemia type I].

Shaoke Chen, Jingsi Luo, B. Xie, 2014, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Germline Duplication of SNORA18L5 Increases Risk for HBV-related Hepatocellular Carcinoma by Altering Localization of Ribosomal Proteins and Decreasing Levels of p53.

Weihua Jia, Ying Wang, F. He, 2018, Gastroenterology.

Association between the functional polymorphism Ile31Phe in the AURKA gene and susceptibility of hepatocellular carcinoma in chronic hepatitis B virus carriers

Weihua Jia, F. He, Y. Zeng, 2017, Oncotarget.

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

Yiping Shen, Jiahai Shi, P. Agrawal, 2018, Molecular genetics and metabolism reports.

Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome

R. Du, Wen Zhang, Yunting Lin, 2023, Frontiers in Genetics.

[Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G].

Q. Zhang, X. Fan, C. Li, 2018, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates

Shaoke Chen, S. Luo, Z. Qin, 2018, Scientific Reports.

Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases

P. Agrawal, Shaoke Chen, S. Luo, 2019, Scientific Reports.

EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome

Yiping Shen, Shaoke Chen, Jingsi Luo, 2015, BMC Medical Genetics.

Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism.

Shaoke Chen, S. Luo, Xuehua Hu, 2018, Clinica chimica acta; international journal of clinical chemistry.