Associated Papers
The prevalence of FV Hong Kong in patients with thrombotic disorders in South China.
Chen L et al.
Journal of Thrombosis and Thrombolysis, 2025
Venous thromboembolism laboratory testing (factor V Leiden and factor II c.∗97G>A), 2025 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Kang BE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing.
Zhuang J et al.
European Journal of Medical Research, 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing.
Chen F et al.
Thrombosis Research, 2023
A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency.
Chang YS et al.
Frontiers in Medicine, 2022
Mutations of RNF213 are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish.
Lin J et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Factor V Deficiency with a Thrombotic Clinical Phenotype.
Sridharan M et al.
Seminars in Thrombosis and Hemostasis, 2019
Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Zhang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018