Yunli Lai - Publications

Simultaneous Detection of SMN1, SMN2, NAIP, H4F5, and GTF2H2 Copy Numbers and SMN1 Loss-of-Function Variants for SMA by MALDI-TOF Mass Spectrometry.

Journal: The Journal of molecular diagnostics : JMD

Published: April 27, 2026

Current research status of third-generation sequencing technology in thalassemia detection.

Journal: Frontiers in pediatrics

Published: September 15, 2025

A multiplex allele specific PCR capillary electrophoresis (mASPCR-CE) assay for simultaneously analysis of SMN1/SMN2/NAIP copy number and SMN1 loss-of-function variants.

Journal: Clinical chemistry and laboratory medicine

Published: February 14, 2025

Analysis of Prenatal Diagnosis and Pregnancy Decisions of 767 Singleton Pregnancies With Positive Prenatal Cell-Free DNA Screening Results in Southwest China.

Journal: Journal of pregnancy

Published: January 09, 2025

Prevalence of thalassaemia among childbearing-age Li and Han populations in Hainan Province.

Journal: Hematology (Amsterdam, Netherlands)

Published: October 21, 2024

The application of expanded noninvasive prenatal screening for genome-wide chromosomal abnormalities and genetic counseling.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: May 03, 2021

Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China.

Journal: Genes

Published: February 03, 2021

Low-pass genome sequencing: a validated method in clinical cytogenetics.

Journal: Human genetics

Published: March 11, 2020

A Cell-free DNA Barcode-Enabled Single-Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β-Thalassemia.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Published: December 27, 2018

Genetic Variants at BCL11A and HBS1L-MYB loci Influence Hb F Levels in Chinese Zhuang β-Thalassemia Intermedia Patients.

Journal: Hemoglobin

Published: April 01, 2017

The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients.

Journal: Blood cells, molecules & diseases

Published: October 30, 2016

Common genetic polymorphisms at three loci affect HbF levels in β-thalassemia patients from Southern China.

Journal: Blood cells, molecules & diseases

Published: August 08, 2016