Yuanbai Wang

发表

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study

Dongmei Chen, Yingjun Xie, Yuying Jiang, 2021, Frontiers in Genetics.

Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families

Jianxing Zeng, Yuying Jiang, Shuhong Zeng, 2020, Journal of Clinical Pathology.

Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China

Junyu Wang, Yuying Jiang, Shuhong Zeng, 2019, Journal of Clinical Pathology.

Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing

Chunnuan Chen, Dongmei Chen, Yingjun Xie, 2022, Frontiers in Pediatrics.

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

Chunnuan Chen, Junyu Wang, Yingjun Xie, 2022, Frontiers in Genetics.

Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China

Chunnuan Chen, Chunling Lv, Yuying Jiang, 2021, BMC Pregnancy and Childbirth.

A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant

Yuying Jiang, Q. Luo, Shuhong Zeng, 2022, Indian Journal of Hematology and Blood Transfusion.

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

Chunnuan Chen, Yingjun Xie, Yuying Jiang, 2022, Molecular genetics & genomic medicine.

Molecular analysis of a large novel deletion causing α+-thalassemia

Yanchao Pan, Yuying Jiang, Shuhong Zeng, 2019, BMC Medical Genetics.

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

Chunnuan Chen, Yingjun Xie, Yuying Jiang, 2023, BMC Medical Genomics.

A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication

Yiming Lin, Chunling Lv, Yuying Jiang, 2019, Molecular Cytogenetics.

Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population

Chunnuan Chen, Yingjun Xie, Yuying Jiang, 2022, Molecular cytogenetics.

Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array

Yingjun Xie, Yuying Jiang, Shuhong Zeng, 2021, Molecular cytogenetics.

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review

Chunnuan Chen, Jia Li, Yiming Lin, 2021, Frontiers in Pediatrics.

Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication

Chunnuan Chen, Yingjun Xie, Yuying Jiang, 2022, Frontiers in Genetics.

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing

Chunnuan Chen, Yingjun Xie, Yuying Jiang, 2022, Frontiers in Genetics.

[Genetic Analysis and Prenatal Diagnosis of Thalassemia in Couples of Childbearing Age in Quanzhou Region Fujian Province, China].

Yuying Jiang, J. Zhuang, N. Zhang, 2022, Zhongguo shi yan xue ye xue za zhi.

A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant

Yuying Jiang, Q. Luo, Shuhong Zeng, 2022, Indian Journal of Hematology and Blood Transfusion.

Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China

Hui Huang, Jing Wu, Lijing Shi, 2020, Frontiers in Genetics.

A familial case of Syndactyly type IV due to a novel duplication of ~222.23 kb covering exons 2-17 of the LMBR1 gene: a case report

Hui Huang, Jing Wu, Lijing Shi, 2018, bioRxiv.

Molecular analysis of a large novel deletion causing α+-thalassemia

Yanchao Pan, Yuying Jiang, Shuhong Zeng, 2019, BMC Medical Genetics.