Gain-of-Function Claims for Type-2-Diabetes-Associated Coding Variants in SLC16A11 Are Not Supported by the Experimental Data. 1.Hoch E, Florez JC, Lander ES, Jacobs SBR. Gain-of-Function Claims for Type-2-Diabetes-Associated Coding Variants in SLC16A11 Are Not Supported by the Experimental Data. Cell Rep. 2019;29(3):778-780. doi:10.1016/j.celrep.2019.09.021. Read more
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. 1.Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, Epi25 Collaborative. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. Am J Hum Genet. 2019;105(2):267-282. doi:10.1016/j.ajhg.2019.05.020. Read more
Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy. 1.Dvela-Levitt M, Kost-Alimova M, Emani M, et al. Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy. Cell. 2019;178(3):521-535.e23. doi:10.1016/j.cell.2019.07.002. Read more
Large-scale chemical-genetics yields new M. tuberculosis inhibitor classes. 1.Johnson EO, LaVerriere E, Office E, et al. Large-scale chemical-genetics yields new M. tuberculosis inhibitor classes. Nature. 2019;571(7763):72-78. doi:10.1038/s41586-019-1315-z. Read more
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia. 1.Alver M, Palover M, Saar A, et al. Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia. Genet Med. 2019;21(5):1173-1180. doi:10.1038/s41436-018-0311-2. Read more
Optimal-Transport Analysis of Single-Cell Gene Expression Identifies Developmental Trajectories in Reprogramming. 1.Schiebinger G, Shu J, Tabaka M, et al. Optimal-Transport Analysis of Single-Cell Gene Expression Identifies Developmental Trajectories in Reprogramming. Cell. 2019;176(6):1517. doi:10.1016/j.cell.2019.02.026. Read more
2018 William Allan Award: Discovering the Genes for Common Disease: From Families to Populations. 1.Lander ES. 2018 William Allan Award: Discovering the Genes for Common Disease: From Families to Populations. Am J Hum Genet. 2019;104(3):375-383. doi:10.1016/j.ajhg.2019.01.016. Read more
Neoantigen vaccine generates intratumoral T cell responses in phase Ib glioblastoma trial. 1.Keskin DB, Anandappa AJ, Sun J, et al. Neoantigen vaccine generates intratumoral T cell responses in phase Ib glioblastoma trial. Nature. 2019;565(7738):234-239. doi:10.1038/s41586-018-0792-9. Read more
Genome-Wide CRISPR/Cas9 Screening for Identification of Cancer Genes in Cell Lines. 1.Adelmann CH, Wang T, Sabatini DM, Lander ES. Genome-Wide CRISPR/Cas9 Screening for Identification of Cancer Genes in Cell Lines. Methods Mol Biol. 2019;1907:125-136. doi:10.1007/978-1-4939-8967-6_10. Read more
The Genetic Landscape of Diamond-Blackfan Anemia. 1.Ulirsch JC, Verboon JM, Kazerounian S, et al. The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018;103(6):930-947. doi:10.1016/j.ajhg.2018.10.027. Read more