Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.
Brichova M et al.
Genes, 2024
Attempts to identify the molecular cause of autoinflammatory recurrent fever.
Boyarchuk O et al.
Reumatologia, 2024
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
Poker Y et al.
Frontiers in Genetics, 2023
36777733 (PubMed )
Supplement: Table2.XLSX › S4-_Variants_vPANEL1_vPANEL2
Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.
Alexeeva E et al.
Frontiers in Medicine, 2023
Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing.
Trifiletti R et al.
Scientific Reports, 2022
Genetic analysis of nucleotide-binding leucine-rich repeat (NLR) receptors in multiple sclerosis.
Popplewell LF et al.
Immunogenetics, 2020
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Karacan İ et al.
Rheumatology International, 2019
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7
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