Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F et al.
The Journal of Experimental Medicine, 2025
Immunologic and Genetic Contributors to CD46-Dependent Immune Dysregulation.
Meyer BJ et al.
Journal of Clinical Immunology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.
van Deuren RC et al.
Genome Medicine, 2021
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
Sandling JK et al.
Annals of the Rheumatic Diseases, 2021
Whole-exome Sequencing for the Identification of Rare Variants in Primary Immunodeficiency Genes in Children With Sepsis: A Prospective, Population-based Cohort Study.
Borghesi A et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2020
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.
Ashton JJ et al.
Clinical and Translational Gastroenterology, 2020
Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.
Denson LA et al.
Gastroenterology, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
Petersen BS et al.
Inflammatory Bowel Diseases, 2017
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E et al.
Plos One, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.
Bionda C et al.
Human Genetics, 2004
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
Ishibashi F et al.
Human Genetics, 2000
[Prospects for gene therapy for chronic granulomatous disease with gp91-phox deficiency].
Nunoi H et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1998
A novel polymorphism in the coding region of CYBB, the human gp91-phox gene.
Kuribayashi F et al.
Human Genetics, 1996