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.

Ge T, Chen C-Y, 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.

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.

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.

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.

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.

Golan D, Rosset S, Lander ES. Reply to Lee: Downward bias in heritability estimation is not due to simplified linkage equilibrium SNP simulation. Proc Natl Acad Sci U S A. 2015;112(40):E5452-3. doi:10.1073/pnas.1511370112.

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.

Markljung E, Jiang L, Jaffe JD, et al. ZBED6, a novel transcription factor derived from a domesticated DNA transposon regulates IGF2 expression and muscle growth. PLoS Biol. 2009;7(12):e1000256. doi:10.1371/journal.pbio.1000256.