Associated Papers
Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.
Szczawińska-Popłonyk A et al.
International Journal of Molecular Sciences, 2024
Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes.
Gámez-Díaz L et al.
Biomedical Journal, 2021
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Li N et al.
Npj Breast Cancer, 2021
34117267 (PubMed )
Supplement: 41523_2021_279_MOESM2_ESM.xlsx › Supp._Table_4b_Recurrent_MS
Base Excision Repair in the Immune System: Small DNA Lesions With Big Consequences.
Stratigopoulou M et al.
Frontiers in Immunology, 2020
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.
Massaad MJ et al.
The Journal of Clinical Investigation, 2016
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
Variation in base excision repair capacity.
Wilson DM et al.
Mutation Research, 2011
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