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Publications

Best practices to evaluate the impact of biomedical research software-metric collection beyond citations.

Afiaz A, Ivanov AA, Chamberlin J, et al. Best practices to evaluate the impact of biomedical research software-metric collection beyond citations. Bioinformatics (Oxford, England). 2024. doi:10.1093/bioinformatics/btae469

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Cortese A, Beecroft SJ, Facchini S, et al. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nature communications. 2024;15(1):6327. doi:10.1038/s41467-024-49950-2

STING: Stay near to STIM(1) neuroprotection.

Lee HG, Quintana FJ. STING: Stay near to STIM(1) neuroprotection. Molecular cell. 2024;84(14):2596-2597. doi:10.1016/j.molcel.2024.06.034

Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders.

Andersen RE, Alkuraya IF, Ajeesh A, et al. Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. Human genetics. 2024. doi:10.1007/s00439-024-02693-y

Aerobic denitrification as an N2O source from microbial communities.

Roothans N, Gabriëls M, Abeel T, Pabst M, van Loosdrecht MCM, Laureni M. Aerobic denitrification as an N2O source from microbial communities. The ISME journal. 2024;18(1). doi:10.1093/ismejo/wrae116

Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.

Chen Y, Lee K, Woo J, et al. Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers. Research square. 2024. doi:10.21203/rs.3.rs-4587317/v1

PRC1.6 localizes on chromatin with the human silencing hub (HUSH) complex for promoter-specific silencing.

Rodríguez TC, Yurkovetskiy L, Nagalekshmi K, et al. PRC1.6 localizes on chromatin with the human silencing hub (HUSH) complex for promoter-specific silencing. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.07.12.603173

Adjuvantation of a SARS-CoV-2 mRNA vaccine with controlled tissue-specific expression of an mRNA encoding IL-12p70.

Brook B, Duval V, Barman S, et al. Adjuvantation of a SARS-CoV-2 mRNA vaccine with controlled tissue-specific expression of an mRNA encoding IL-12p70. Science translational medicine. 2024;16(757):eadm8451. doi:10.1126/scitranslmed.adm8451

Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults.

Pozarickij A, Gan W, Lin K, et al. Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults. Nature communications. 2024;15(1):6265. doi:10.1038/s41467-024-50297-x

Large-scale discovery of chromatin dysregulation induced by oncofusions and other protein-coding variants.

Frenkel M, Corban JE, Hujoel MLA, Morris Z, Raman S. Large-scale discovery of chromatin dysregulation induced by oncofusions and other protein-coding variants. Nature biotechnology. 2024. doi:10.1038/s41587-024-02347-4