Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular diseaseJonas B. Nielsen, Jennifer A. Smith, Oren Rom et al.|Nature Communications|2020Cited by 91
Neuronal intranuclear inclusion disease is genetically heterogeneousZhongbo Chen, Henry Houlden, Wai Yan Yau et al.|Annals of Clinical and Translational Neurology|2020Cited by 65
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant informationSebastian Guelfi, Jean‐Christophe Corvol, Karishma D’Sa et al.|Nature Communications|2020Cited by 39
Genetic study of von Willebrand factor antigen levels ≤ 50 IU/dL identifies variants associated with increased risk of von Willebrand disease and bleedingPaul S. de Vries, Adam S. Heath, Jennifer E. Huffman et al.|Journal of Thrombosis and Haemostasis|2025Cited by 5
Human-lineage-specific genomic elements: relevance to neurodegenerative disease and <i>APOE</i> transcript usageZhongbo Chen, Mina Ryten, David Zhang et al.|bioRxiv (Cold Spring Harbor Laboratory)|2020Cited by 4