Yates M, Vasudevan PC, Chandler KE, et al. De novo mutations in HNRNPU result in a neurodevelopmental syndrome. Am J Med Genet A. 2017;173(11):3003-3012. doi:10.1002/ajmg.a.38492
Schafer DP, Stevens B. Brains, Blood, and Guts: MeCP2 Regulates Microglia, Monocytes, and Peripheral Macrophages. Immunity. 2015;42(4):600-2. doi:10.1016/j.immuni.2015.04.002
Yu L, Lutz MW, Farfel JM, et al. Neuropathologic features of TOMM40 ’523 variant on late-life cognitive decline. Alzheimers Dement. 2017;13(12):1380-1388. doi:10.1016/j.jalz.2017.05.002
Wang L, Fan J, Francis JM, et al. Integrated single-cell genetic and transcriptional analysis suggests novel drivers of chronic lymphocytic leukemia. Genome Res. 2017;27(8):1300-1311. doi:10.1101/gr.217331.116
Murata K, Fang C, Terao C, et al. Hypoxia-Sensitive COMMD1 Integrates Signaling and Cellular Metabolism in Human Macrophages and Suppresses Osteoclastogenesis. Immunity. 2017;47(1):66-79.e5. doi:10.1016/j.immuni.2017.06.018
Luukkonen TM, Kiiski V, Ahola M, et al. The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients. Acta Derm Venereol. 2017;97(4):456-463. doi:10.2340/00015555-2578
Lazaridis I, Mittnik A, Patterson N, et al. Genetic origins of the Minoans and Mycenaeans. Nature. 2017;548(7666):214-218. doi:10.1038/nature23310
Mor N, Rais Y, Sheban D, et al. Neutralizing Gatad2a-Chd4-Mbd3/NuRD Complex Facilitates Deterministic Induction of Naive Pluripotency. Cell Stem Cell. 2018;23(3):412-425.e10. doi:10.1016/j.stem.2018.07.004
Bolze A, Boisson B, Bosch B, et al. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons. Proc Natl Acad Sci U S A. 2018;115(34):E8007-E8016. doi:10.1073/pnas.1805437115
Li H, Bloom JM, Farjoun Y, et al. A synthetic-diploid benchmark for accurate variant-calling evaluation. Nat Methods. 2018;15(8):595-597. doi:10.1038/s41592-018-0054-7