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Genome Medicine|July 19, 2022
Recommendations for clinical interpretation of variants found in non-coding regions of the genomeJamie M Ellingford, Joo Wook Ahn, Richard D Bagnall, et al.Blood Advances|January 26, 2021
Neutrophil specific granule and NETosis defects in gray platelet syndromeCathelijn E M Aarts, Kate Downes, Arie J Hoogendijk, et al.Nature Communications|March 10, 2022
Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locusDavid Stacey, Lingyan Chen, Paulina J Stanczyk, et al.Cell|November 19, 2016
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene PromotersBiola M Javierre, Oliver S Burren, Steven P Wilder, et al.Genome Biology|March 12, 2017
Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenomeWarren A Cheung, Xiaojian Shao, Andréanne Morin, et al.Nature Communications|August 18, 2023
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiologyParsa Akbari, Dragana Vuckovic, Luca Stefanucci, et al.The Journal of Clinical Investigation|January 31, 2017
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopeniaIrina Pleines, Joanne Woods, Stephane Chappaz, et al.Clinical Epigenetics|March 13, 2022
Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypesDenis Seyres, Alessandra Cabassi, John J Lambourne, et al.Blood|August 30, 2023
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participantsLuca Stefanucci, Janine Collins, Matthew C Sims, et al.Science (New York, N.Y.)|September 27, 2014
Epigenetic programming of monocyte-to-macrophage differentiation and trained innate immunitySadia Saeed, Jessica Quintin, Hindrik H D Kerstens, et al.Pageof 9