Associated Papers
TNFRSF13B Variant-Induced TACI Dysregulation Underlies CAEBV Pathogenesis.
Deng X et al.
Journal of Clinical Immunology, 2026
Clinical characteristic of isolated thrombocytopenia in patients with bone marrow failure-related germline variants: a retrospective study from a single centre.
Dong N et al.
Annals of Medicine, 2025
Diffuse alveolar hemorrhage syndrome in children: Primary immunodeficiency diseases and implications for clinical management.
Zhang X et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2025
A novel NPHS1 variant in a Chinese infant with congenital nephrotic syndrome: a case report and literature review.
Zhang W et al.
Frontiers in Pediatrics, 2025
Novel heterozygous mutations of TNFRSF13B in EBV-associated T/NK lymphoproliferative diseases (EBV-T/NK-LPDs).
Deng X et al.
Blood Science (baltimore, Md.), 2024
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Musolf AM et al.
Communications Biology, 2023
Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study.
Zou J et al.
Frontiers in Neurology, 2023
TNFRSF13B c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension.
Shinya Y et al.
Journal of the American Heart Association, 2021
Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.
Wu Y et al.
Frontiers in Genetics, 2021
Recent advances in elucidating the genetics of common variable immunodeficiency.
Aggarwal V et al.
Genes & Diseases, 2020
Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.
Wang Y et al.
Frontiers in Cell and Developmental Biology, 2020
Screening for Genetic Mutations for the Early Diagnosis of Common Variable Immunodeficiency in Children With Refractory Immune Thrombocytopenia: A Retrospective Data Analysis From a Tertiary Children's Center.
Ma J et al.
Frontiers in Pediatrics, 2020
Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.
Su D et al.
Nature Communications, 2019
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing.
Li R et al.
Biomed Research International, 2018
A gain-of-function mutation in TNFRSF13B is a candidate for predisposition to familial or sporadic immune thrombocytopenia.
Peng HL et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
Search on chromosome 17 centromere reveals TNFRSF13B as a susceptibility gene for intracranial aneurysm: a preliminary study.
Inoue K et al.
Circulation, 2006
Inborn errors of immunity and its clinical significance in children with lymphoma in China: a single-center study.
Yang C et al.
Jornal De Pediatria, 0