Associated Papers
Complement deficiencies and infections.
El Sissy C et al.
Current Opinion in Immunology, 2026
Monogenic disorders of immunity: Common variants are not so rare.
Béziat V et al.
Cell Genomics, 2026
Late-Onset Bilateral Malignant Ciliary Body Medulloepithelioma in an Adult.
Kaimi Y et al.
Pathology International, 2026
Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy.
Chen X et al.
Journal of Nephrology, 2023
Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Connaughton DM et al.
Journal of Molecular Medicine (berlin, Germany), 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding.
Luo FM et al.
Frontiers in Pediatrics, 2021
Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.
Hu B et al.
Frontiers in Oncology, 2021
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Arcas-García A et al.
Clinical and Experimental Immunology, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.
Willems E et al.
Clinical & Translational Immunology, 2020
Whole-exome sequencing detects mutations in pediatric patients with atypical hemolytic uremic syndrome in Taiwan.
Tseng MH et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation.
Tanita K et al.
Frontiers in Pediatrics, 2019
The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.
Geerlings MJ et al.
Molecular Immunology, 2017
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017