Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.
Chen HA et al.
Molecular Genetics and Metabolism Reports, 2024
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.
Deng J et al.
Frontiers in Genetics, 2019
[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].
Yang RL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype.
Tong F et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.
McCorvie TJ et al.
Gene, 2013
Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.
Bang YL et al.
The Febs Journal, 2009
The structural and molecular biology of type III galactosemia.
Timson DJ
Iubmb Life, 2006
The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.
Park HD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0