Ping Li

发表

Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects

Shaobin Lin, Yi Zhou, X. Ou, 2021, Molecular cytogenetics.

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome

H. Hakonarson, H. Qu, L. Tian, 2019, Orphanet Journal of Rare Diseases.

Ankyrin repeat domain 1: A novel gene for cardiac septal defects

Jimei Chen, J. Zhuang, Xiaobing Liu, 2019, The journal of gene medicine.

Distepharinamide, a novel dimeric proaporphine alkaloid from Diploclisia glaucescens, inhibits the differentiation and proliferative expansion of CD4+Foxp3+ regulatory T cells.

C. Chou, Chang-An Geng, Ji-Jun Chen, 2022, Phytomedicine : international journal of phytotherapy and phytopharmacology.

A Novel Mutation in MYH6 in Two Unrelated Chinese Han Families with Familial Atrial Septal Defect.

J. Zhuang, Yueheng Wu, Shufang Huang, 2019, Circulation. Genomic and precision medicine.

Atypical Deletion of Williams-beuren Syndrome Reveals the Mechanism of Neurodevelopmental Disorders

Tao Ge, J. Zhuang, Xianwu Zhou, 2020 .

Functional analysis of HECA variants identified in congenital heart disease in the Chinese population

Wei Sheng, Ping Li, Yao Wu, 2022, Journal of clinical laboratory analysis.

Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease

J. Zhuang, Yueheng Wu, Shufang Huang, 2018, Prenatal diagnosis.

FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy

H. Hakonarson, H. Qu, Y. Liu, 2020, medRxiv.

Clinical application of chromosomal microarray analysis for the diagnosis of Williams–Beuren syndrome in Chinese Han patients

J. Zhuang, Yueheng Wu, Shufang Huang, 2018, Molecular genetics & genomic medicine.

Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect.

J. Zhuang, Yueheng Wu, Shufang Huang, 2021, European journal of medical genetics.

X‐linked BCOR variants identified in Chinese Han patients with congenital heart disease

Wei Sheng, Ping Li, Guo-Ying Huang, 2022, The journal of gene medicine.

A Case of a Derivative Chromosome: der(Y)t(Y;18)Pat with Congenital Abnormalities

J. Zhuang, Yueheng Wu, Shufang Huang, 2019, Fetal and Pediatric Pathology.

A novel splice‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review

Liang Wang, Ping Li, Ya Wen, 2023, Molecular Genetics & Genomic Medicine.

A novel GATA-binding protein 4 gene variation associated with familial atrial septal defect

Jimei Chen, J. Zhuang, Xiaobing Liu, 2018, bioRxiv.