Yanchou Ye

Publications by Year

Research Areas

Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Genetic Syndromes and Imprinting, Hemoglobinopathies and Related Disorders, Connective tissue disorders research

Most-Cited Works

• → Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach(2016)227 cited
• → Non‑invasive prenatal diagnosis of thalassemia through multiplex PCR, target capture and next‑generation sequencing(2020)16 cited
• → The Association between Maternal/Fetal Insulin Receptor Substrate 1 Gene Polymorphism rs1801278 and Gestational Diabetes Mellitus in a Chinese Population(2021)12 cited
• → Prenatal diagnosis of fetuses with Emanuel syndrome: Results of ultrasound examination and invasive genetic testing(2022)5 cited
• → Application of third-generation sequencing technology in the genetic testing of thalassemia(2024)4 cited
• → Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method(2021)2 cited
• → Prenatal diagnosis of Prader–Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status(2025)1 cited
• [Children's hearing behavior observations and high risk individual genetic screening for late-onset hearing loss early detection and intervention exploring a basic-level hospitals model].(2015)
• → Detection research in noninvasive prenatal diagnosis of cell-free fetal DNA in maternal plasma(2017)
• → Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies(2026)