Associated Papers
Genetic Mutations and Small Bowel Ulcerating Disease: Role in Diagnosis?
Modi R et al.
Current Gastroenterology Reports, 2025
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.
Goel S et al.
Journal of Clinical Immunology, 2022
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Frede N et al.
Journal of Clinical Immunology, 2021
The role and mechanism of CARD9 gene polymorphism in diseases.
Ji C et al.
Biomedical Journal, 2021
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
Partanen T et al.
Journal of Clinical Immunology, 2020
Pathway paradigms revealed from the genetics of inflammatory bowel disease.
Graham DB et al.
Nature, 2020
The multifaceted role of CARD9 in inflammatory bowel disease.
Luo P et al.
Journal of Cellular and Molecular Medicine, 2020
Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic.
Prucha M et al.
Case Reports in Immunology, 2020
Rare and common variant discovery in complex disease: the IBD case study.
Venkataraman GR et al.
Human Molecular Genetics, 2019
First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia.
Chiriaco M et al.
Frontiers in Immunology, 2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
Molecular and physiological roles of the adaptor protein CARD9 in immunity.
Zhong X et al.
Cell Death & Disease, 2018
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Huang H et al.
Nature, 2017
Genetics of inflammatory bowel disease: beyond NOD2.
Mirkov MU et al.
The Lancet. Gastroenterology & Hepatology, 2017
The genetic background of inflammatory bowel disease: from correlation to causality.
Uniken Venema WT et al.
The Journal of Pathology, 2017
Protective alleles and modifier variants in human health and disease.
Harper AR et al.
Nature Reviews. Genetics, 2015
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.
Beaudoin M et al.
Plos Genetics, 2013
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Rivas MA et al.
Nature Genetics, 2011