Cai L, Zheng LA, He L. The forty years of medical genetics in China. J Genet Genomics. 2018;45(11):569-582. doi:10.1016/j.jgg.2018.10.001
Biesecker LG, Nussbaum RL, Rehm HL. Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition. JAMA. 2018;320(18):1929-1930. doi:10.1001/jama.2018.14900
Dyke SOM, Knoppers BM, Hamosh A, et al. "Matching" consent to purpose: The example of the Matchmaker Exchange. Hum Mutat. 2017;38(10):1281-1285. doi:10.1002/humu.23278
Ge T, Chen CY, Neale BM, Sabuncu MR, Smoller JW. Phenome-wide heritability analysis of the UK Biobank. PLoS Genet. 2017;13(4):e1006711. doi:10.1371/journal.pgen.1006711
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
Kurki MI, Saarentaus E, Pietilainen O, et al. Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. Nat Commun. 2019;10(1):410. doi:10.1038/s41467-018-08262-y
Kruglyak L, Lander ES. Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet. 1995;57(2):439-54.
Barrera LA, Vedenko A, Kurland JV, et al. Survey of variation in human transcription factors reveals prevalent DNA binding changes. Science. 2016;351(6280):1450-4. doi:10.1126/science.aad2257
Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet. 1996;58(6):1347-63.