Gymrek M, Willems T, Reich D, Erlich Y iv. Interpreting short tandem repeat variations in humans using mutational constraint. Nat Genet. 2017;49(10):1495-1501. doi:10.1038/ng.3952
Belbin GM, Odgis J, Sorokin EP, et al. Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system. Elife. 2017;6. doi:10.7554/eLife.25060
Choi SH, Weng LC, Roselli C, et al. Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation. JAMA. 2018;320(22):2354-2364. doi:10.1001/jama.2018.18179
Cassa CA, Weghorn D, Balick DJ, et al. Reply to ’Selective effects of heterozygous protein-truncating variants’. Nat Genet. 2019;51(1):3-4. doi:10.1038/s41588-018-0301-y
Khera AV, Won HH, Peloso GM, et al. Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease. JAMA. 2017;317(9):937-946. doi:10.1001/jama.2017.0972
Ene IV, Farrer RA, Hirakawa MP, Agwamba K, Cuomo CA, Bennett RJ. Global analysis of mutations driving microevolution of a heterozygous diploid fungal pathogen. Proc Natl Acad Sci U S A. 2018;115(37):E8688-E8697. doi:10.1073/pnas.1806002115
Cassa CA, Weghorn D, Balick DJ, et al. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet. 2017;49(5):806-810. doi:10.1038/ng.3831
Latva-Rasku A, Honka MJ, Stančáková A, et al. A Partial Loss-of-Function Variant in Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study. Diabetes. 2018;67(2):334-342. doi:10.2337/db17-1142
Rusu V, Hoch E, Mercader JM, et al. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell. 2017;170(1):199-212.e20. doi:10.1016/j.cell.2017.06.011
Heinzen EL, O’Neill AC, Zhu X, et al. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018;14(5):e1007281. doi:10.1371/journal.pgen.1007281