Huijun Wang

发表

Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project*

Rui Cheng, Yangfang Li, Bing-bing Wu, 2021, Critical care medicine.

The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra

Bing-bing Wu, Yan Ren, Wenhao Zhou, 2019 .

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

J. Zhao, Xiaohong Wang, Jibin Dong, 2015, PloS one.

A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development

Z. Qiu, Wenhao Zhou, Xu Liu, 2018, Neuroscience Bulletin.

Novel heterozygous GATA3 and SLC34A3 variants in a 6‐year‐old boy with Barakat syndrome and hypercalciuria

W. Lu, Huijun Wang, Y. Ni, 2020, Molecular genetics & genomic medicine.

Tissue-specific differential DNA methylation at Igf 2 / H 19 locus in a mouse model for embryonal ethanol exposure

Duan Ma, Xiaotian Li, Qiongjie Zhou, 2009 .

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians

Xinran Dong, Bing-bing Wu, Wenhao Zhou, 2022, Orphanet Journal of Rare Diseases.

Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients

Xiu Xu, Bing-bing Wu, Gang Li, 2021, Journal of Autism and Developmental Disorders.

A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease

Libo Wang, Huijun Wang, Jing Liu, 2017, Pediatric Research.

[Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families].

Wen-Hao Zhou, Bing-bing Wu, Dan-yan Zhuang, 2020, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Genetic Architecture of Childhood Kidney and Urological Diseases in China

Jinghai Li, Liping Zhao, Jianhua Mao, 2021, Phenomics.

Characteristics and outcomes of glomerulonephritis with membranoproliferative pattern in children

Y. Zhai, Jing Chen, Jialu Liu, 2021, Translational pediatrics.

Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort.

Duan Ma, Y. Zhai, K. Dong, 2020, European journal of medical genetics.

COQ8B nephropathy: Early detection and optimal treatment

Y. Zhai, Jing Chen, Jialu Liu, 2020, Molecular genetics & genomic medicine.

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians

Xinran Dong, Wenhao Zhou, Lin Yang, 2021, Orphanet Journal of Rare Diseases.

Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project

Xinran Dong, F. Liu, Gang Li, 2022, Journal of Medical Genetics.

Secondary genomic findings in the 2020 China Neonatal Genomes Project participants

Xinran Dong, Lin Yang, Yulan Lu, 2022, World Journal of Pediatrics.

Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants

G. Lu, Wenhao Zhou, Lin Yang, 2020, npj Genomic Medicine.

Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey

Xiuyong Cheng, Ying Huang, H. Zeng, 2017, Inflammatory bowel diseases.

Estimation of hereditary fructose intolerance prevalence in the Chinese population

Xinran Dong, Q. Ni, Yulan Lu, 2022, Orphanet Journal of Rare Diseases.

Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.

Mingbang Wang, Xinran Dong, Wenhao Zhou, 2018, Clinica chimica acta; international journal of clinical chemistry.

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants

Wenhao Zhou, Guoqiang Chen, Lin Yang, 2019, BMC Medical Genetics.

Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China

Ziqing Ye, Jun-ping Lu, Yu-huan Wang, 2019, Genetics in Medicine.

Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders

Xinran Dong, T. Xiao, Deyi Zhuang, 2022, Frontiers in Molecular Neuroscience.

COQ8B nephropathy: Early detection and optimal treatment

Y. Zhai, Jing Chen, Jialu Liu, 2020, Molecular genetics & genomic medicine.

Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants

G. Lu, Wenhao Zhou, Lin Yang, 2020, npj Genomic Medicine.

Umbilical Cord Blood Transplantation Corrects Very Early-Onset Inflammatory Bowel Disease in Chinese Patients With IL10RA-Associated Immune Deficiency.

Ying Zhou, Jun-ping Lu, Yu-huan Wang, 2018, Inflammatory bowel diseases.

EDN1 Gene Variant is Associated with Neonatal Persistent Pulmonary Hypertension

Jinqiao Sun, Wenhao Zhou, Lin Yang, 2016, Scientific Reports.

Relationship between phenotype and genotype of 102 Chinese newborns with Prader–Willi syndrome

Wenhao Zhou, Lin Yang, Huijun Wang, 2019, Molecular Biology Reports.

In the developing cerebral cortex: axonogenesis, synapse formation, and synaptic plasticity are regulated by SATB2 target genes

Xinran Dong, Huijun Wang, Yanyan Qian, 2022, Pediatric Research.

Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay

Xinran Dong, Gang Li, Ping Zhang, 2022, Frontiers in Pediatrics.

Neonatal Metabolic Acidosis in the Neonatal Intensive Care Unit: What Are the Genetic Causes?

Xinran Dong, Yangfang Li, Wenhao Zhou, 2021, Frontiers in Pediatrics.

Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data

Zhengyan Zhao, Wenhao Zhou, T. Xiao, 2021, Annals of translational medicine.

Secondary genomic findings in the 2020 China Neonatal Genomes Project participants

Xinran Dong, Lin Yang, Yulan Lu, 2022, World Journal of Pediatrics.

First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant

Wenhao Zhou, Ping Zhang, Renchao Liu, 2020, Molecular genetics & genomic medicine.

microRNA expression profiling of heart tissue during fetal development.

Weidong Tian, Xinran Dong, Duan Ma, 2014, International journal of molecular medicine.

microRNA EXPRESSION PROFILING OF CARDIAC TISSUE DURING FETAL DEVELOPMENT 1251 vital role by regulating heart gene expression in heart

Weidong Tian, Xinran Dong, Qiongjie Zhou, 2014 .

Overdosage of HNF1B Gene Associated With Annular Pancreas Detected in Neonate Patients With 17q12 Duplication

Gang Li, Wenhao Zhou, Yun Cao, 2021, Frontiers in Genetics.

Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review

Huijun Wang, Dahui Wang, Li Sun, 2022, Molecular genetics & genomic medicine.

Familial hemophagocytic lymphohistiocytosis in a newborn presenting with recurrent fever and thrombocytopenia

C. Dandoy, Hongsheng Wang, Wenhao Zhou, 2019, Pediatric Medicine.

Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients: Study From a Tertiary Care Center

Ying Zhou, Ziqing Ye, Hua Sun, 2018, Pancreas.

KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant

Wenhao Zhou, Ping Zhang, Huijun Wang, 2015, BMC Medical Genetics.

Mutations of CNTNAP1 led to defects in neuronal development

Z. Qiu, Wenhao Zhou, Lin Yang, 2020, JCI insight.

Clinical and genetic spectrum of a large cohort of children with epilepsy in China

Xinran Dong, Wenhao Zhou, Lin Yang, 2018, Genetics in Medicine.

A novel 333 bp deletion of IL10RA in Chinese patients with neonatal-onset inflammatory bowel disease

Xinran Dong, Ying Huang, Wenhao Zhou, 2021, Journal of Clinical Immunology.

Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients

Wen-Hao Zhou, Si-Min Ma, Huijun Wang, 2015, Molecular genetics & genomic medicine.

Overcoming the pitfalls of NGS-based molecular diagnosis of Shwachman-Diamond syndrome

Xinran Dong, Gang Li, Lin Yang, 2021, medRxiv.

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly

Xinran Dong, Wenhao Zhou, Qing Wang, 2019, Molecular genetics & genomic medicine.

Genetic aetiology of early infant deaths in a neonatal intensive care unit

Wenhao Zhou, Lin Yang, Huijun Wang, 2019, Journal of Medical Genetics.

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report

Wenhao Zhou, Yulan Lu, Huijun Wang, 2020, BMC Medical Genetics.

Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project

Xinran Dong, W. Lu, Hao-Yun Li, 2021, Human mutation.

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort

Xinran Dong, Xiu Xu, Wenhao Zhou, 2020, Journal of Medical Genetics.

Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing.

Wenhao Zhou, Lin Yang, Huijun Wang, 2017, Clinica chimica acta; international journal of clinical chemistry.

Deletion of CHD8 in cerebellar granule neuron progenitors leads to severe cerebellar hypoplasia, ataxia and psychiatric behavior in mice.

Xinran Dong, Lin Yang, Huijun Wang, 2022, Journal of genetics and genomics = Yi chuan xue bao.

A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report

Shuizhen Zhou, Yuanfeng Zhou, Huijun Wang, 2020, Translational pediatrics.

High-Frequency Exon Deletion of DNA Cross-Link Repair 1C Accounting for Severe Combined Immunodeficiency May Be Missed by Whole-Exome Sequencing

Jinqiao Sun, Gang Li, Wenhao Zhou, 2021, Frontiers in Genetics.

De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models.

Z. Qiu, Wenhao Zhou, Lin Yang, 2014, Biochimica et biophysica acta.

Clinical and genetic etiologies of neonatal unconjugated hyperbilirubinemia in the China Neonatal Genomes Project.

Xinran Dong, Wenhao Zhou, Yun Cao, 2021, The Journal of pediatrics.

PhenoPro: a novel toolkit for assisting in the diagnosis of Mendelian disease

Lin Yang, Weidong Tian, Feng Zhang, 2019, Bioinform..

Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation

Yulan Lu, Wenhao Zhou, Xinran Dong, 2018, Cold Spring Harbor molecular case studies.

Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China

Xinran Dong, G. Lu, Wenhao Zhou, 2020, Human Genetics.

Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients

Shuizhen Zhou, Wenhui Li, Ping Zhang, 2023, Frontiers in Pediatrics.

Speech and language delay in a patient with WDR4 mutations.

Lin Yang, Yulan Lu, Wenhao Zhou, 2018, European journal of medical genetics.

Survival Motor Neuron Gene Copy Number Analysis by Exome Sequencing

Xinran Dong, Gang Li, Wenhao Zhou, 2020 .

SMN gene copy number analysis by exome-seq: assisting SMA diagnosis and carrier screening.

Xinran Dong, Gang Li, Wenhao Zhou, 2020, The Journal of molecular diagnostics : JMD.

Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China

Xinran Dong, Zejun Wei, Sha Tang, 2021, Clinical genetics.

Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family

Jinqiao Sun, Gang Li, W. Ying, 2022, Molecular genetics & genomic medicine.

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

Mingbang Wang, Weidong Tian, Wenhao Zhou, 2017, BMC Medical Genetics.

Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort

Jianhua Mao, Duan Ma, Y. Zhai, 2021, BMC Medical Genomics.

Aetiology and outcomes of prolonged neonatal jaundice in tertiary centres: data from the China Neonatal Genome Project

Xinran Dong, Gong Chen, Wenhao Zhou, 2022, Archives of Disease in Childhood.

Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants.

Jian-She Wang, J. Zhao, Wenhao Zhou, 2020, Journal of clinical lipidology.

Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients.

Xinnian Pan, Q. Wei, Lin Yang, 2020, Translational pediatrics.

A novel recurrent 3.6-kb deletion in the PYGL gene contributes to glycogen storage disease type VI.

Xinran Dong, Yi Lu, Gang Li, 2020, The Journal of molecular diagnostics : JMD.

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype

Xinran Dong, Libo Wang, Yun Cao, 2021, Archives of Disease in Childhood.

Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome

Wenhao Zhou, Long Li, Yajie Su, 2021, Frontiers in Pediatrics.

Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system

Jianhua Mao, Zhi Chen, Xiaorong Liu, 2019, Clinical genetics.

Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients

Jinqiao Sun, Yi Lu, M. Gan, 2022, Frontiers in Genetics.

First reported Chinese case of guanidinoacetate methyltransferase deficiency in a 4-year-old child.

W. Lu, Ping Zhang, Huijun Wang, 2017, Clinica chimica acta; international journal of clinical chemistry.

Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China

Xinran Dong, G. Lu, Wenhao Zhou, 2020, Human Genetics.

Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology

Gang Li, Q. Wei, Lin Yang, 2023, JAMA network open.

CYP2C9*3 Increases the Ibuprofen Response of Hemodynamically Significant Patent Ductus Arteriosus in the Infants with Gestational Age of More Than 30 Weeks

Xinran Dong, Wenhao Zhou, T. Xiao, 2021, Phenomics.

Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family

Gang Li, Yun-Yun Ren, Ping Zhang, 2022, Reproductive Sciences.

Screening for primary immunodeficiency diseases by next‐generation sequencing in early life

Xinran Dong, Jinqiao Sun, Wenhao Zhou, 2020, Clinical & translational immunology.

Data on mutations and Clinical features in SCN1A or SCN2A gene

Mingbang Wang, Xinran Dong, Wenhao Zhou, 2018, Data in brief.

Lentiviral-mediated expression of SATB2 promotes osteogenic differentiation of bone marrow stromal cells in vitro and in vivo.

Huijun Wang, Fei Yang, Youcheng Yu, 2014, European journal of oral sciences.

Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.

Huijun Wang, Yun-Fei Zhang, Y. Ni, 2021, International journal of pediatric otorhinolaryngology.

Recessive LOXHD1 Variants Cause a Milder Prelingual Hearing Loss: Genotype-Phenotype Correlation and Three Additional Patients With Novel Variants

Huijun Wang, Yun-Fei Zhang, Y. Ni, 2020 .

A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development

Z. Qiu, Wenhao Zhou, Xu Liu, 2018, Neuroscience Bulletin.

Clinical and genetic spectrum of a large cohort of children with epilepsy in China

Xinran Dong, Q. Lu, Wenhao Zhou, 2018, Genetics in Medicine.

Importance of Early Genetic Sequencing in Neonates Admitted to NICU with Recurrent Hypernatremia: Results of a Prospective Cohort Study

Wenhao Zhou, Yun Cao, Lin Yang, 2021, Neonatology.

Genetic Spectrum Identified by Exome Sequencing in a Chinese Pediatric Cerebral Palsy Cohort.

Xinran Dong, Wenhao Zhou, T. Xiao, 2021, The Journal of pediatrics.

Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss.

Q. Ni, Huijun Wang, Yun-Fei Zhang, 2021, European journal of medical genetics.

Protocol of the China Neonatal Genomes Project: an observational study about genetic testing on 100,000 neonates

Wenhao Zhou, Lin Yang, Feifan Xiao, 2021, Pediatric Medicine.

Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea

Ying Huang, Ping Zhang, Renchao Liu, 2021, Frontiers in Genetics.

In the developing cerebral cortex: axonogenesis, synapse formation, and synaptic plasticity are regulated by SATB2 target genes

Xinran Dong, Huijun Wang, Yanyan Qian, 2022, Pediatric Research.

Genome-wide methylation analysis reveals differentially methylated CpG sites and altered expression of heart development-associated genes in fetuses with cardiac defects

Xinran Dong, Xiaotian Li, Y. Xiong, 2021, Experimental and therapeutic medicine.

Molecular Genetic Analysis of Newborns with Congenital Microcephaly

Xinran Dong, Lin Yang, Yulan Lu, 2022, Neonatology.

Risk stratification of hemodynamically significant patent ductus arteriosus by clinical and genetic factors

Xinran Dong, T. Xiao, Yun Cao, 2023, World Journal of Pediatrics.

Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project

Xinran Dong, Q. Shen, Gang Li, 2023, Kidney international reports.

Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects

Xinran Dong, Chengjun Sun, F. Luo, 2022, Osteoporosis International.

High-risk phenotypes of genetic disease in a Neonatal Intensive Care Unit population

Xinran Dong, Mengchun Gong, Wenhao Zhou, 2022, Chinese medical journal.

One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome

Xinran Dong, Wenhao Zhou, Lin Yang, 2017, Journal of clinical research in pediatric endocrinology.

Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project

Xinran Dong, Gang Li, Long Li, 2023, Human Genetics.

Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis

Xinran Dong, Lin Yang, Yulan Lu, 2023, Genome medicine.

The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Yan Ren, Wenhao Zhou, Long Li, 2019, Annals of translational medicine.

PICOTEES: a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants from Chinese children cohorts.

Xinran Dong, Wenhao Zhou, Lin Yang, 2023, Journal of genetics and genomics = Yi chuan xue bao.

Novel Variants of PPP2R1A in Catalytic Subunit Binding Domain and Genotype–Phenotype Analysis in Neurodevelopmentally Delayed Patients

Gang Li, Huijun Wang, Yanyan Qian, 2023, Genes.