1.
Schmidt RJ, Steeves M, Bayrak-Toydemir P, et al. Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Genetics in medicine : official journal of the American College of Medical Genetics. 2023;26(3):101036. doi:10.1016/j.gim.2023.101036.
1.
Gold JI, Madhavan S, Park J, et al. Phenotypes of undiagnosed adults with actionable and variants. HGG advances. 2023;4(4):100226. doi:10.1016/j.xhgg.2023.100226.
1.
Whiffin N, Minikel E, Walsh R, et al. Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med. 2017;19(10):1151-1158. doi:10.1038/gim.2017.26.
1.
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.
1.
Loh P-R, Genovese G, Handsaker RE, et al. Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. Nature. 2018;559(7714):350-355. doi:10.1038/s41586-018-0321-x.
1.
Friedman J, Olvera J, Silhavy JL, Gabriel SB, Gleeson JG. Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance. Neurology. 2012;79(9):946-8. doi:10.1212/WNL.0b013e318266fabf.
1.
Cassa CA, Tong MY, Jordan DM. Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum Mutat. 2013;34(9):1216-20. doi:10.1002/humu.22375.
1.
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.
1.
Vieira NM, Elvers I, Alexander MS, et al. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 2015;163(5):1204-13. doi:10.1016/j.cell.2015.10.049.
1.
Minikel EV, Vallabh SM, Lek M, et al. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016;8(322):322ra9. doi:10.1126/scitranslmed.aad5169.