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
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S2.xlsx › Supplementary_Table_2
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Cananzi M et al.
Human Genetics, 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
33037003 (PubMed )
Supplement: annrheumdis-2020-218636supp002.pdf
A clinical score to guide in decision making for monogenic type I IFNopathies.
Sönmez HE et al.
Pediatric Research, 2020
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
Dand N et al.
Human Molecular Genetics, 2017
28973304 (PubMed )
Supplement: dand_exomewideassociationstudy_hmg_2017_supplementaryexcel_ddx328.xlsx › Supp_Table_10
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
Lamborn IT et al.
The Journal of Experimental Medicine, 2017
28606988 (PubMed )
Supplement: JEM_20161759_TableS3.xlsx › Sheet6
A rare coding allele in IFIH1 is protective for psoriatic arthritis.
Budu-Aggrey A et al.
Annals of the Rheumatic Diseases, 2017
28501801 (PubMed )
Supplement: annrheumdis-2016-210592supp001.pdf
The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity.
Gorman JA et al.
Nature Immunology, 2017
A novel support vector machine-based approach for rare variant detection.
Fang YH et al.
Plos One, 2013
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
Nejentsev S et al.
Science (new York, N.y.), 2009
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