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Nature Communications|December 24, 2025
Proteomic signatures of smoking and their associations with risk of incident diseases and mortality in diverse populationsSihao Xiao, Bowen Liu, M Austin Argentieri, et al.American Journal of Medical Genetics. Part A|December 14, 2021
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformationsSrimmitha Balachandar, Tamara J Graves, Anika Shimonty, et al.Orphanet Journal of Rare Diseases|July 1, 2020
European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)Omer F Eker, Edoardo Boccardi, Ulrich Sure, et al.Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.Pageof 7