Milko LV, Funke BH, Hershberger RE, et al. Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genet Med. 2019;21(4):987-993. doi:10.1038/s41436-018-0267-2.
Kuo S-Y, Castoreno AB, Aldrich LN, et al. Small-molecule enhancers of autophagy modulate cellular disease phenotypes suggested by human genetics. Proc Natl Acad Sci U S A. 2015;112(31):E4281-7. doi:10.1073/pnas.1512289112.
Martin AR, Gignoux CR, Walters RK, et al. Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. Am J Hum Genet. 2017;100(4):635-649. doi:10.1016/j.ajhg.2017.03.004.
Dyke SOM, Linden M, Lappalainen I, et al. Registered access: authorizing data access. Eur J Hum Genet. 2018;26(12):1721-1731. doi:10.1038/s41431-018-0219-y.
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.
Collins FS, Doudna JA, Lander ES, Rotimi CN. Human Molecular Genetics and Genomics - Important Advances and Exciting Possibilities. N Engl J Med. 2021;384(1):1-4. doi:10.1056/NEJMp2030694.
Lander ES, Botstein D. Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map. Cold Spring Harb Symp Quant Biol. 1986;51 Pt 1:49-62.
Sachidanandam R, Weissman D, Schmidt SC, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001;409(6822):928-33. doi:10.1038/35057149.