Xiumin Wang

发表

Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.

Tingting Yu, Jian Wang, Niu Li, 2018, Gene.

Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort

Jian Wang, Hao Chen, Xiumin Wang, 2019, Orphanet Journal of Rare Diseases.

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients

Jian Wang, Niu Li, Xiumin Wang, 2019, Clinical genetics.

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.

Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene

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

Maternal diabetes induces autism-like behavior by hyperglycemia-mediated persistent oxidative stress and suppression of superoxide dismutase 2

Ya-ping Tang, Jianping Lu, Xiaodong Huang, 2019, Proceedings of the National Academy of Sciences.

Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

Yiping Shen, Tingting Yu, Jian Wang, 2019, Orphanet Journal of Rare Diseases.

Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development

Yiping Shen, Tingting Yu, Jian Wang, 2017, Journal of child neurology.

Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay

Tingting Yu, Jian Wang, Niu Li, 2017, Medicine.

Prevalence of precocious puberty among Chinese children: a school population-based study

Shijian Liu, Xin Lai, Xiumin Wang, 2021, Endocrine.

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.

Association between Dietary Patterns and Precocious Puberty in Children: A Population-Based Study

Yunting Zhang, F. Jiang, Yanrui Jiang, 2018, International journal of endocrinology.

Investigating the relationship between precocious puberty and obesity: a cross-sectional study in Shanghai, China

Yunting Zhang, F. Jiang, Yanrui Jiang, 2017, BMJ Open.

cross-sectional study in Shanghai , China precocious puberty and obesity : a Investigating the relationship between and

Yunting Zhang, F. Jiang, Yanrui Jiang, 2017 .

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.

De Novo Mutation of KAT6B Gene Causing Atypical Say–Barber–Biesecker–Young–Simpson Syndrome or Genitopatellar Syndrome

Tingting Yu, Jian Wang, Niu Li, 2017, Fetal and pediatric pathology.

Association between bisphenol a exposure and idiopathic central precocious puberty (ICPP) among school-aged girls in Shanghai, China.

Zhijun Zhou, Ying Tian, Xiumin Wang, 2018, Environment international.

Diagnosis of Patients with Mucopolysaccharidosis Type II via RNA Sequencing.

Niu Li, Xiumin Wang, Xin Li, 2022, Clinica chimica acta; international journal of clinical chemistry.

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children

Yiping Shen, Tingting Yu, Jian Wang, 2019, Genes.

Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome

Jian Wang, Yufei Xu, Xiumin Wang, 2020, Scientific Reports.

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients

Jian Wang, Niu Li, Xiumin Wang, 2019, Clinical genetics.

Cocultivation of Chinese prescription and intestine microbiota: SJZD alleviated the major symptoms of IBS-D subjects by tuning neurotransmitter metabolism

Weijun Ding, Yaji Xu, Qiaoqiao Chen, 2022, Frontiers in Endocrinology.

Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure

Yiping Shen, Tingting Yu, Jian Wang, 2018, Molecular and Cellular Endocrinology.

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report

Jian Wang, Xiumin Wang, Xin Li, 2019, BMC Pediatrics.

Turner syndrome caused by rare complex structural abnormalities involving chromosome X.

Jian Wang, Niu Li, Xiumin Wang, 2017, Experimental and therapeutic medicine.

CNV profiles of Chinese pediatric patients with developmental disorders

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

Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype

Yiping Shen, Tingting Yu, Jian Wang, 2016, Experimental and therapeutic medicine.

Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature

Jian Wang, Niu Li, Xiumin Wang, 2021, The Journal of clinical endocrinology and metabolism.

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

Yiping Shen, Tingting Yu, Jian Wang, 2018, Orphanet Journal of Rare Diseases.

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.

Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients.

Yiping Shen, Tingting Yu, Jian Wang, 2018, Clinica chimica acta; international journal of clinical chemistry.

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency

Yiping Shen, Yu Ding, Tingting Yu, 2017, International journal of molecular sciences.

SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS

Yiping Shen, Jian Wang, Niu Li, 2018, Fetal and pediatric pathology.

Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia

Jian Wang, Niu Li, F. Jiang, 2020, Journal of diabetes investigation.

New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development.

Yiping Shen, Tingting Yu, Jian Wang, 2019, European journal of endocrinology.

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

Jian Wang, Niu Li, Xiumin Wang, 2020, BMC medical genetics.

A boy with 9p+ resulting from maternal t(4;9) translocation: a case report

H. Dai, J. Xia, Xiumin Wang, 2007 .

A rare unbalanced Y:autosome translocation in a Turner syndrome patient

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

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

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

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants

Xin Li, Niu Li, Xiumin Wang, 2023, Frontiers in Endocrinology.

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.

TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations

Tingting Yu, Jian Wang, Niu Li, 2020, Molecular genetics & genomic medicine.

Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene

Jian Wang, Niu Li, Xiumin Wang, 2015, Meta gene.

Germline Neurofibromin 1 mutation enhances the anti‐tumour immune response and decreases juvenile myelomonocytic leukaemia tumourigenicity

Lili Song, Yi Yang, Yingwen Zhang, 2023, British journal of haematology.

Expression of CYP3A23/1, CYP3A2, PXR, CAR and HNF4alpha in large-for-gestational-age neonatal rats.

S. Zeng, Xiumin Wang, Zhengyan Zhao, 2009, Die Pharmazie.

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

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

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series

Yiping Shen, Jian Wang, O. Bodamer, 2019, American journal of medical genetics. Part A.

Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature

Yiping Shen, Tingting Yu, Jian Wang, 2017, American journal of medical genetics. Part A.

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities

F. Alkuraya, M. Bekheirnia, Tingting Yu, 2023, EBioMedicine.

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

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

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

B. Feng, Tingting Yu, Xiumin Wang, 2023, Molecular genetics & genomic medicine.