Guo MH, Plummer L, Chan YM, Hirschhorn JN, Lippincott MF. Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. Am J Hum Genet. 2018;103(4):522-534. doi:10.1016/j.ajhg.2018.08.016
Publications
Haas ME, Aragam KG, Emdin CA, et al. Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure. Am J Hum Genet. 2018;103(4):461-473. doi:10.1016/j.ajhg.2018.08.004
Shen J, Xiao R, Bair J, et al. Novel engineered, membrane-localized variants of vascular endothelial growth factor (VEGF) protect retinal ganglion cells: a proof-of-concept study. Cell Death Dis. 2018;9(10):1018. doi:10.1038/s41419-018-1049-0
Regier AA, Farjoun Y, Larson DE, et al. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat Commun. 2018;9(1):4038. doi:10.1038/s41467-018-06159-4
Kong X, Yao T, Zhou P, et al. Brown Adipose Tissue Controls Skeletal Muscle Function via the Secretion of Myostatin. Cell Metab. 2018;28(4):631-643.e3. doi:10.1016/j.cmet.2018.07.004
Li BB, Qian C, Gameiro PA, et al. Targeted profiling of RNA translation reveals mTOR-4EBP1/2-independent translation regulation of mRNAs encoding ribosomal proteins. Proc Natl Acad Sci U S A. 2018;115(40):E9325-E9332. doi:10.1073/pnas.1805782115
Layer JV, Cleary P, Brown AJ, et al. Parp3 promotes long-range end joining in murine cells. Proc Natl Acad Sci U S A. 2018;115(40):10076-10081. doi:10.1073/pnas.1801591115
Grant AR, Hemphill SE, Vincent LM, Rehm HL. Reclassification of the p.Ile208Val variant by case-level data sharing. Cold Spring Harb Mol Case Stud. 2018;4(5). doi:10.1101/mcs.a002675
Schirmer M, Kumar V, Netea MG, Xavier RJ. The causes and consequences of variation in human cytokine production in health. Curr Opin Immunol. 2018;54:50-58. doi:10.1016/j.coi.2018.05.012
Kearney SM, Gibbons SM, Poyet M, et al. Endospores and other lysis-resistant bacteria comprise a widely shared core community within the human microbiota. ISME J. 2018;12(10):2403-2416. doi:10.1038/s41396-018-0192-z