Shaoke Chen

发表

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.

Reference centiles for evaluating total body fat development and fat distribution by dual-energy x-ray absorptiometry among children and adolescents aged 3-18 years.

Weili Yan, J. Mi, Xiaona Wang, 2020, Clinical nutrition.

Putative regulators for the continuum of erythroid differentiation revealed by single-cell transcriptome of human BM and UCB cells

C. Hillyer, Xinghua Pan, N. Mohandas, 2020, Proceedings of the National Academy of Sciences.

U-shaped relationship between birth weight and childhood blood pressure in China

Yimin Zhu, C. Gong, Shaoke Chen, 2019, BMC Pediatrics.

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.

LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies

M. Qi, Shanhuo Yan, Yuehong Zhou, 2019, Human mutation.

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

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

A Non-invasive Model for Detection of Undiagnosed Metabolic Syndrome in School Children and Adolescents

C. Gong, Junfen Fu, J. Derraik, 2020 .

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism

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

Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism.

Shaoke Chen, Jingsi Luo, C. Fu, 2014, Arquivos brasileiros de endocrinologia e metabologia.

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.

Polyethylene glycol recombinant human growth hormone in Chinese prepubertal slow-growing short children: doses reported in a multicenter real-world study

Di Wu, C. Gong, Yanfeng Xiao, 2022, BMC Endocrine Disorders.

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.

Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China.

Shaoke Chen, Shang Yi, Sheng He, 2017, Gene.

Hb H Hydrops Fetalis Syndrome Caused by Association of the − −SEA Deletion and Hb Constant Spring (HBA2: c.427T > C) Mutation in a Chinese Family

Xiao-Xian Tian, Shaoke Chen, Qiang Zhang, 2015, Hemoglobin.

Deletion and Hb Constant Spring (HBA2: c.427T4C) Mutation in a Chinese Family

Xiao-Xian Tian, Shaoke Chen, Qiang Zhang, 2015 .

Prevention and control of Hb Bart's disease in Guangxi Zhuang Autonomous Region, China.

Shaoke Chen, Qiang Zhang, Sheng He, 2014, European journal of obstetrics, gynecology, and reproductive biology.

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.

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

Asan, Huanming Yang, Jian Wang, 2017, EBioMedicine.

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study

Peixiang Ni, Zhiyu Peng, Shanhuo Yan, 2020, European journal of human genetics : EJHG.

REPORT Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

Feng Zhang, S. Jhangiani, Zhihong Wu, 2022 .

High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor

H. Hakonarson, H. Qu, L. Tian, 2020, Journal of paediatrics and child health.

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.

Construction of a new complete growth reference for urban Chinese children

Yunxian Yu, C. Gong, Junfen Fu, 2022, BMC public health.

Core clinical symptoms and heterogeneous manifestations of NS / LAH: three case reports and review of the literature

Shaoke Chen, Z. Qin, Qiang Zhang, 2020 .

Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

S. Sooranna, Shaoke Chen, X. Fan, 2015, Global pediatric health.

Delineation of dual molecular diagnosis in patients with skeletal deformity

Zhihong Wu, G. Qiu, N. Wu, 2022, Orphanet Journal of Rare Diseases.

First Detection of a Splice Acceptor Site β-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese Patient

Shaoke Chen, Qiang Zhang, Sheng He, 2015, Hemoglobin.

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

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

Genetic effects have a dominant role on poor responses to infant vaccination to hepatitis B virus

Weili Yan, Shaoke Chen, Kai Yan, 2013, Journal of Human Genetics.

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.

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of human genetics.

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.

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.

Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations.

P. Agrawal, Shaoke Chen, S. Luo, 2019, Clinica chimica acta; international journal of clinical chemistry.

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.

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.

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples

Asan, Huanming Yang, Jian Wang, 2018, European Journal of Human Genetics.

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.

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.

Epidemiology and Phenotypic Characteristics of Dual Molecular Diagnosis Cases in Skeletal Abnormality

Zhihong Wu, G. Qiu, N. Wu, 2021 .

Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.

J. Lupski, Zhihong Wu, Shuyang Zhang, 2021, Journal of genetics and genomics = Yi chuan xue bao.

Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder

Yiping Shen, Xin Fan, Wenyong Wu, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

[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.

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

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

Regional Disparities in Obesity Among a Heterogeneous Population of Chinese Children and Adolescents

R. Dorazio, R. Zheng, Yunxian Yu, 2021, JAMA network open.

Parental Perceptions of Obesity in School Children and Subsequent Action.

Éadaoin M Butler, C. Gong, Junfen Fu, 2019, Childhood obesity.

[Epidemiologic study on current pubertal development in Chinese school-aged children].

Junfen Fu, Shaoke Chen, L. Liang, 2013, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

The Effects of Genetic Variation in FTO rs9939609 on Obesity and Dietary Preferences in Chinese Han Children and Adolescents

Yimin Zhu, C. Gong, Junfen Fu, 2014, PloS one.

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.

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples

Asan, Huanming Yang, Jian Wang, 2018, European Journal of Human Genetics.

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

Yiping Shen, Jian Wang, Haiming Yuan, 2019, Orphanet Journal of Rare Diseases.

Preterm Birth and Birth Weight and the Risk of Type 1 Diabetes in Chinese Children

R. Zheng, Yunxian Yu, Fang Liu, 2021, Frontiers in Endocrinology.

The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant

Shaoke Chen, Z. Qin, Qiang Zhang, 2020, Medicine.

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.

New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype–phenotype profiling of SRD5A2 in 190 Chinese patients

C. Gong, Shaoke Chen, F. Luo, 2019, Journal of Medical Genetics.

Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.

Yiping Shen, Lingqian Wu, W. Lv, 2016, Gene.

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.

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.

Growth Curves of Chinese Children with Androgen Insensitivity Syndrome: A Multicenter Registry Study

C. Gong, Shaoke Chen, Ge-li Liu, 2022, Journal of personalized medicine.

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism

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

Growth Pattern in Chinese Children With 5α-Reductase Type 2 Deficiency: A Retrospective Multicenter Study

Di Wu, C. Gong, Shaoke Chen, 2019, Front. Pharmacol..

Long-term Pegylated GH for Children With GH Deficiency: A Large, Prospective, Real-world Study

J. Liu, Xuefan Gu, H. Pan, 2023, Journal of Clinical Endocrinology and Metabolism.

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.

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.

A Multicenter Survey of Type I Diabetes Mellitus in Chinese Children

C. Gong, Junfen Fu, Zhixin Zhang, 2021, Frontiers in Endocrinology.

[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.

Prevention and control of Hb Bart's disease in Guangxi Zhuang Autonomous Region, China.

Shaoke Chen, Qiang Zhang, Sheng He, 2014, European journal of obstetrics, gynecology, and reproductive biology.