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Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.

Di Gioia SA, Shaaban S, Tuysuz B, et al. Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. Am J Hum Genet. 2018;103(1):115-124. doi:10.1016/j.ajhg.2018.05.003

Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants.

Iqbal S, Pérez-Palma E, Jespersen JB, et al. Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants. Proc Natl Acad Sci U S A. 2020;117(45):28201-28211. doi:10.1073/pnas.2002660117

Profiling SARS-CoV-2 HLA-I peptidome reveals T cell epitopes from out-of-frame ORFs.

Weingarten-Gabbay S, Klaeger S, Sarkizova S, et al. Profiling SARS-CoV-2 HLA-I peptidome reveals T cell epitopes from out-of-frame ORFs. Cell. 2021;184(15):3962-3980.e17. doi:10.1016/j.cell.2021.05.046

Critical assessment of protein intrinsic disorder prediction.

Necci M, Piovesan D, CAID Predictors, DisProt Curators, Tosatto SCE. Critical assessment of protein intrinsic disorder prediction. Nat Methods. 2021;18(5):472-481. doi:10.1038/s41592-021-01117-3

Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts.

Levin JZ, Berger MF, Adiconis X, et al. Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts. Genome Biol. 2009;10(10):R115. doi:10.1186/gb-2009-10-10-r115

Quantification of cardiovascular biomarkers in patient plasma by targeted mass spectrometry and stable isotope dilution.

Keshishian H, Addona T, Burgess M, et al. Quantification of cardiovascular biomarkers in patient plasma by targeted mass spectrometry and stable isotope dilution. Mol Cell Proteomics. 2009;8(10):2339-49. doi:10.1074/mcp.M900140-MCP200

Developing multiplexed assays for troponin I and interleukin-33 in plasma by peptide immunoaffinity enrichment and targeted mass spectrometry.

Kuhn E, Addona T, Keshishian H, et al. Developing multiplexed assays for troponin I and interleukin-33 in plasma by peptide immunoaffinity enrichment and targeted mass spectrometry. Clin Chem. 2009;55(6):1108-17. doi:10.1373/clinchem.2009.123935

A second fatty acid amide hydrolase with variable distribution among placental mammals.

Wei BQ, Mikkelsen TS, McKinney MK, Lander ES, Cravatt BF. A second fatty acid amide hydrolase with variable distribution among placental mammals. J Biol Chem. 2006;281(48):36569-78. doi:10.1074/jbc.M606646200

The microbial opsin family of optogenetic tools.

Zhang F, Vierock J, Yizhar O, et al. The microbial opsin family of optogenetic tools. Cell. 2011;147(7):1446-57. doi:10.1016/j.cell.2011.12.004

The role of lysine 55 in determining the specificity of the purine repressor for its operators through minor groove interactions.

Glasfeld A, Koehler AN, Schumacher MA, Brennan RG. The role of lysine 55 in determining the specificity of the purine repressor for its operators through minor groove interactions. J Mol Biol. 1999;291(2):347-61. doi:10.1006/jmbi.1999.2946