Associated Papers
Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis.
Akalu Y et al.
Journal of Human Immunity, 2026
Host control of persistent Epstein-Barr virus infection.
Schmidt A et al.
Nature, 2026
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
TNFRSF13B Variant-Induced TACI Dysregulation Underlies CAEBV Pathogenesis.
Deng X et al.
Journal of Clinical Immunology, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Common Variable Immunodeficiency Disorders: A perspective from New Zealand.
Ameratunga R et al.
Clinical Reviews in Allergy & Immunology, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency.
Abolhassani H et al.
Journal of Human Immunity, 2025
Cutaneous AL-Type Amyloidomas as a Variant of Primary Cutaneous Marginal Zone Lymphoma: A Series of 30 Patients.
García-González S et al.
The American Journal of Dermatopathology, 2025
Rare Genetic Variants Underlying Primary Immunodeficiency: Clinical, Pulmonary, and Genetic Insights from Two Pediatric Cases.
Sikhayeva N et al.
Genes, 2025
Genomic and clinical characterization of adult CVID patients: results from a single-centre turkish cohort.
Yilmaz Tekinhatun H et al.
Immunologic Research, 2025
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
Ji L et al.
The Journal of Clinical Investigation, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies.
Bakhuizen JJ et al.
European Journal of Cancer (oxford, England : 1990), 2025
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Registry-Based Frequency and Clinical Characteristics of Inborn Errors of Immunity in Kazakhstan: A Retrospective Observational Cohort Study (2009-2023).
Sikhayeva N et al.
Journal of Clinical Medicine, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X 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
Genomic profiling at a single center cracks the code in inborn errors of immunity.
Andriano A et al.
Internal and Emergency Medicine, 2025
Monogenic Common Variable Immunodeficiency (Mo-CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort.
Barbati F et al.
European Journal of Immunology, 2025
Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes.
Carapezza G et al.
Genes, Chromosomes & Cancer, 2025
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms.
Li J et al.
International Journal of Laboratory Hematology, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.
Cunningham JL et al.
Developmental Neuroscience, 2025
Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia.
Feshbach LH et al.
Case Reports in Genetics, 2025
An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene.
Gu H et al.
Genetics in Medicine Open, 2025
Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.
Ilic N et al.
Genes, 2024
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
Deciphering the genetics and mechanisms of predisposition to multiple myeloma.
Went M et al.
Nature Communications, 2024
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Utsumi T et al.
Journal of Clinical Immunology, 2024
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
A Nationwide Study of the Delayed Diagnosis and the Clinical Manifestations of Predominantly Antibody Deficiencies and CTLA4-Mediated Immune Dysregulation Syndrome in Greece.
Kapousouzi A et al.
Medicina (kaunas, Lithuania), 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
Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.
Dangoni GD et al.
Pediatric 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
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Challenges for gene editing in common variable immunodeficiency disorders: Current and future prospects.
Ameratunga R et al.
Clinical Immunology (orlando, Fla.), 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
Neurological involvement in patients with primary immunodeficiency.
Kose H et al.
Allergologia Et Immunopathologia, 2024
TNFRSF13B gene mutation in familial acute myeloid leukemia: A new piece in the complex scenario of hereditary predisposition?
Cumbo C et al.
Hematological Oncology, 2023
Refractory Status Epilepticus Associated With a Pathogenic Variant in TNFRSF13B.
Yang JH et al.
Cureus, 2023