Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Topping J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.
Bui DT et al.
Scientific Reports, 2024
Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.
Baz DS et al.
Frontiers in Pediatrics, 2024
Innate immune inflammatory cell death: PANoptosis and PANoptosomes in host defense and disease.
Chen W et al.
European Journal of Immunology, 2023
RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features.
Sultan M et al.
Frontiers in Immunology, 2022
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2021
RIPK1-Associated Inborn Errors of Innate Immunity.
Zhang J et al.
Frontiers in Immunology, 2021
Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation.
Lin L et al.
Genes & Diseases, 2020
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.
Uchiyama Y et al.
Journal of Human Genetics, 2019
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Li Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
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