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Identification of sequence variants influencing immunoglobulin levels.

Jonsson S, Sveinbjornsson G, Portilla AL de L, et al. Identification of sequence variants influencing immunoglobulin levels. Nat Genet. 2017;49(8):1182-1191. doi:10.1038/ng.3897

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

Roberts AM, Ware JS, Herman DS, et al. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med. 2015;7(270):270ra6. doi:10.1126/scitranslmed.3010134

Rare coding variants and X-linked loci associated with age at menarche.

Lunetta KL, Day FR, Sulem P, et al. Rare coding variants and X-linked loci associated with age at menarche. Nat Commun. 2015;6:7756. doi:10.1038/ncomms8756

The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining.

Park J, Welner RS, Chan MY, et al. The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining. J Immunol. 2016;196(1):244-55. doi:10.4049/jimmunol.1403099

Proteomic Analysis of Unbounded Cellular Compartments: Synaptic Clefts.

Loh KH, Stawski PS, Draycott AS, et al. Proteomic Analysis of Unbounded Cellular Compartments: Synaptic Clefts. Cell. 2016;166(5):1295-1307.e21. doi:10.1016/j.cell.2016.07.041