Ye Wang

发表

Chromosomal abnormalities detected by karyotyping and microarray analysis in twins with structural anomalies

Shaobin Lin, Linhuan Huang, Xuan Huang, 2020, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis

D. Cooper, C. Férec, Caixia Xu, 2020, Frontiers in Genetics.

Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family

L. Lai, Hao Liang, Xiangfu Zhou, 2016, Cancer biology & therapy.

Clinical value of genetic analysis in prenatal diagnosis of short femur

Shaobin Lin, Linhuan Huang, Yanmin Luo, 2019, Molecular genetics & genomic medicine.

Chromosomal aberrations and CNVs in twin fetuses with cardiovascular anomalies: Comparison between monochorionic diamniotic and dichorionic diamniotic twins

Shaobin Lin, Linhuan Huang, Yanmin Luo, 2018, Prenatal diagnosis.

Prenatal Genetic Counseling in a Chinese Pregnant Woman With Rare Thalassemia: A Case Report

Hongxu Xu, Pinning Feng, Jiang Zhang, 2021, Frontiers in Genetics.

Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions

Qibin Li, D. Cooper, C. Férec, 2015, Human Genetics.

Concurrent Nucleotide Substitution Mutations in the Human Genome Are Characterized by a Significantly Decreased Transition/Transversion Ratio

Qibin Li, D. Cooper, C. Férec, 2015, Human mutation.

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2

S. Banerjee, Zhiyun Yang, Yang Li, 2016, Oncotarget.

Absence of heterozygosity detected by single‐nucleotide polymorphism array in prenatal diagnosis

Shaobin Lin, Linhuan Huang, Yanmin Luo, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas

D. Cooper, C. Férec, Peiqiang Su, 2015, Human mutation.

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly

D. Cooper, C. Férec, Xueli Wu, 2018, Human Genomics.

Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses

D. Cooper, C. Férec, Jian-Min Chen, 2019, Front. Genet..

The p.Ser267Phe variant in SLC10A1 is associated with resistance to chronic hepatitis B

P. Sham, Shuhua Xu, Qibin Li, 2015, Hepatology.

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine

P. Sham, Shuhua Xu, Yingnan Cao, 2017, Scientific Reports.

Qibin Li, D. Cooper, C. Férec, 2015, Human Genetics.

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly

D. Cooper, C. Férec, Xueli Wu, 2018, Human Genomics.

The p.Ser267Phe variant in SLC10A1 is associated with resistance to chronic hepatitis B

P. Sham, Shuhua Xu, Qibin Li, 2015, Hepatology.