Ye CJ, Chen J, Villani A-C, et al. Genetic analysis of isoform usage in the human anti-viral response reveals influenza-specific regulation of transcripts under balancing selection. Genome Res. 2018;28(12):1812-1825. doi:10.1101/gr.240390.118.
Kory N, Wyant GA, Prakash G, et al. SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism. Science. 2018;362(6416). doi:10.1126/science.aat9528.
Oza AM, DiStefano MT, Hemphill SE, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018;39(11):1593-1613. doi:10.1002/humu.23630.
Harrison SM, Dolinksy JS, Chen W, et al. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Hum Mutat. 2018;39(11):1641-1649. doi:10.1002/humu.23643.
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.
Iqbal NS, Jascur TA, Harrison S, et al. Copy number variations in a population with prune belly syndrome. Am J Med Genet A. 2018;176(11):2276-2283. doi:10.1002/ajmg.a.40476.
Hart R, Biesecker BB, Blout CL, et al. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med. 2019;21(5):1100-1110. doi:10.1038/s41436-018-0308-x.
Tayoun ANA, Pesaran T, DiStefano MT, et al. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018;39(11):1517-1524. doi:10.1002/humu.23626.