Tadros R, Zheng SL, Grace C, et al. Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.01.28.23285147
Publications
Seaby EG, Thomas S, Hunt D, et al. A panel-agnostic strategy ’HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.01.31.23285025
Prosz A, Duan H, Tisza V, et al. Nucleotide excision repair deficiency is a targetable therapeutic vulnerability in clear cell renal cell carcinoma. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.02.07.527498
Folkerts EK, Pelletier RC, Chung DC, et al. A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.02.08.23284667
Jun G, English AC, Metcalf GA, et al. Structural variation across 138,134 samples in the TOPMed consortium. Research square. 2023. doi:10.21203/rs.3.rs-2515453/v1
Nyman J, Denize T, Bakouny Z, et al. Spatially aware deep learning reveals tumor heterogeneity patterns that encode distinct kidney cancer states. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.01.18.524545
Schmied C, Nelson M, Avilov S, et al. Community-developed checklists for publishing images and image analysis. ArXiv. 2023.
Kudtarkar P, Costanzo MC, Sun Y, et al. Leveraging type 1 diabetes human genetic and genomic data in the T1D Knowledge Portal. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.02.03.526066
Dreishpoon MB, Bick NR, Petrova B, et al. FDX1 regulates cellular protein lipoylation through direct binding to LIAS. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.02.03.526472
Shah R V, Steffen LM, Nayor M, et al. Dietary metabolic signatures and cardiometabolic risk. European heart journal. 2023;44(7):557-569. doi:10.1093/eurheartj/ehac446