Chunrong Gui
Guangxi Medical University(CN)First Affiliated Hospital of GuangXi Medical University(CN)
Publications by Year
Research Areas
Hemoglobinopathies and Related Disorders, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Blood groups and transfusion, Muscle Physiology and Disorders
Most-Cited Works
- → CNV profiles of Chinese pediatric patients with developmental disorders(2021)33 cited
- → Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review(2023)6 cited
- → Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature(2021)5 cited
- → Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing–based analysis for hemophilia: experience from a hemophilia treatment center in China(2024)5 cited
- → The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping(2024)4 cited
- → [Genetic testing and pregnancy outcome of 337 fetuses with urinary system anomalies].(2019)3 cited
- → Complex genotype–phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes(2024)3 cited
- → Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review(2023)2 cited
- → Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome(2022)1 cited
- → Additional file 5 of A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South China(2026)