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Communications Biology|December 6, 2024
Novel loci and biomedical consequences of iron homoeostasis variationElias Allara, Steven Bell, Rebecca Smith, et al.Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathyMichele Nicastro, Alexa M C Vermeer, Pieter G Postema, et al.Nature Communications|March 26, 2025
Missense variants in FRS3 affect body mass index in populations of diverse ancestriesAndrea B Jonsdottir, Gardar Sveinbjornsson, Rosa B Thorolfsdottir, et al.Nature Communications|June 10, 2023
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethalityAsmundur Oddsson, Patrick Sulem, Gardar Sveinbjornsson, et al.European Journal of Epidemiology|June 9, 2025
Cohort profile: Copenhagen Hospital Biobank-chronic inflammatory disease-inflammatory bowel disease (CHB-CID:IBD) genetic cohortBehrooz Darbani, Thorsten Brodersen, Anette Liljensøe, et al.American Journal of Human Genetics|May 23, 2025
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathyMichele Nicastro, Alexa M C Vermeer, Pieter G Postema, et al.Annals of the Rheumatic Diseases|April 26, 2022
Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subsetSaedis Saevarsdottir, Lilja Stefansdottir, Patrick Sulem, et al.The Journal of Experimental Medicine|January 4, 2024
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in childrenPaul Bastard, Adrian Gervais, Maki Taniguchi, et al.Nature|April 9, 2025
Translational genomics of osteoarthritis in 1,962,069 individualsKonstantinos Hatzikotoulas, Lorraine Southam, Lilja Stefansdottir, et al.Science Immunology|August 20, 2021
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deathsPaul Bastard, Adrian Gervais, Tom Le Voyer, et al.Pageof 22