Associated Papers
Monogenic lupus with neuroregression in an infant due to rare compound heterozygous variants in C1QA gene: Case-based review.
Jain H et al.
Modern Rheumatology Case Reports, 2025
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
Haslak F et al.
The Journal of Rheumatology, 2024
Update on hereditary C1q deficiency: pathophysiology, clinical presentation, genotype and management.
Buso H et al.
Current Opinion in Allergy and Clinical Immunology, 2024
Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party.
Buso H et al.
Journal of Clinical Immunology, 2024
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.
Triaille C et al.
Journal of Clinical Immunology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
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Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.
Yeo NK et al.
Frontiers in Genetics, 2024
Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus.
Misztal MC et al.
The Journal of Rheumatology, 2023
Genetic screening of early-onset patients with systemic lupus erythematosus by a targeted next-generation sequencing gene panel.
Dasdemir S et al.
Lupus, 2022
Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.
Batu ED et al.
The Journal of Rheumatology, 2018
Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.
Marks LJ et al.
Frontiers in Pediatrics, 2017
Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.
Oberg JA et al.
Genome Medicine, 2016
Early Complement Component Deficiency in a Single-Centre Cohort of Pediatric Onset Lupus.
Bhattad S et al.
Journal of Clinical Immunology, 2015
Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency.
Namjou B et al.
Lupus, 2012
C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasma.
Topaloglu R et al.
Clinical Rheumatology, 2012
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