Associated Papers
Clinical impact of whole-exome sequencing: 10 years of the Great Ormond Street Hospital Autoinflammation Centre of Excellence experience.
Price-Kuehne F et al.
Rheumatology (oxford, England), 2026
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants.
Dutta D et al.
Journal of Human Genetics, 2026
TNFRSF13B Variant-Induced TACI Dysregulation Underlies CAEBV Pathogenesis.
Deng X et al.
Journal of Clinical Immunology, 2026
Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency.
Abolhassani H et al.
Journal of Human Immunity, 2025
Rare Genetic Variants Underlying Primary Immunodeficiency: Clinical, Pulmonary, and Genetic Insights from Two Pediatric Cases.
Sikhayeva N et al.
Genes, 2025
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetics in a Danish Common Variable Immunodeficiency Cohort.
Drabe CH et al.
Journal of Clinical Immunology, 2025
Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.
Forghani I et al.
Genes, 2025
Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.
Cheo SW et al.
Esmo Open, 2025
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms.
Li J et al.
International Journal of Laboratory Hematology, 2025
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.
Rozevska M et al.
Frontiers in Immunology, 2025
Genetic testing of Behçet's disease using next-generation sequencing to identify monogenic mimics and HLA-B*51.
Burleigh A et al.
Rheumatology (oxford, England), 2024
Deciphering the genetics and mechanisms of predisposition to multiple myeloma.
Went M et al.
Nature Communications, 2024
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience.
Aygun A et al.
Immunologic Research, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Common variable immunodeficiency, cross currents, and prevailing winds.
Romberg N et al.
Immunological Reviews, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
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
Exome sequencing in 90 children with developmental delay: a single-center experience.
Boyarchuk O et al.
Frontiers in Genetics, 2024
Evaluating the prevalence of inborn errors of immunity in adults with chronic immune thrombocytopenia or Evans syndrome.
Jiang D et al.
Blood Advances, 2023
Refractory Status Epilepticus Associated With a Pathogenic Variant in TNFRSF13B.
Yang JH et al.
Cureus, 2023
Punctate inner choroidopathy in common variable immunodeficiency associated with a pathogenic variant in the tumour necrosis factor receptor superfamily 13b (TNFRSF13B) gene - Case report and review of the literature.
Salih H et al.
Clinical Immunology (orlando, Fla.), 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort.
Sanchez DA et al.
Frontiers in Immunology, 2023
Genetics and clinical phenotypes in common variable immunodeficiency.
Cunningham-Rundles C et al.
Frontiers in Genetics, 2023
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
Ligand-independent oligomerization of TACI is controlled by the transmembrane domain and regulates proliferation of activated B cells.
Smulski CR et al.
Cell Reports, 2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Multi-omics analysis of naïve B cells of patients harboring the C104R mutation in TACI.
Ramirez N et al.
Frontiers in Immunology, 2022
TNFRSF13B genotypes control immune-mediated pathology by regulating the functions of innate B cells.
de Mattos Barbosa MG et al.
Jci Insight, 2021
TACI haploinsufficiency protects against BAFF-driven humoral autoimmunity in mice.
Jacobs HM et al.
European Journal of Immunology, 2021
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece.
Kakkas I et al.
Medicina (kaunas, Lithuania), 2021