Associated Papers
Utility of long-read sequencing to delineate a rare large deletion of beta-globin gene which escaped Sanger sequencing at prenatal diagnosis in a family clustered with hereditary persistence of fetal hemoglobin.
Lee DJ et al.
Taiwanese Journal of Obstetrics & Gynecology, 2025
Generation of integration-free induced pluripotent stem cell (iPSC) line MURAi002-A from hemoglobin E/β-thalassemia disease patient harboring βE/β0 (CD41/42, -CTTT) compound heterozygous mutation.
Pornratananont G et al.
Stem Cell Research, 2025
Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study.
Nguyen TT et al.
Scientific Reports, 2025
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 2023
Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing.
Chang LH et al.
Cellular and Molecular Neurobiology, 2023
Identification of haemolytic anaemia caused by glucose phosphate isomerase deficiency in a thalassaemia-endemic region: Correction of misdiagnosis and consideration of the cause of misdiagnosis.
Zhu D et al.
British Journal of Haematology, 2023
Comprehensive analysis of mutations and clonal evolution patterns in a cohort of patients with cytogenetically normal acute myeloid leukemia.
Mat Yusoff Y et al.
Molecular Cytogenetics, 2021
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3
Pilot study of a novel multi-functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single-gene disorder screening.
Luo Y et al.
Molecular Genetics & Genomic Medicine, 2019
Increased Prevalence of Thalassemia in Young People in Korea: Impact of Increasing Immigration.
Lee HJ et al.
Annals of Laboratory Medicine, 2019
Investigation of mutations in the HBB gene using the 1,000 genomes database.
Carlice-Dos-Reis T et al.
Plos One, 2017
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