Newborn Screening Translational Research Network (NBSTRN): Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2)

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

S. Kingsmore, Julie A. Cakici, Michelle M. Clark, et al.. (2019). American journal of human genetics. Cited 325 times. https://doi.org/10.1016/j.ajhg.2019.08.009

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.

D. Dimmock, Michelle M. Clark, Mary Gaughran, et al.. (2020). American journal of human genetics. Cited 166 times. https://doi.org/10.1016/j.ajhg.2020.10.003

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.

Julie A. Cakici, D. Dimmock, Sara A. Caylor, et al.. (2020). American journal of human genetics. Cited 82 times. https://doi.org/10.1016/j.ajhg.2020.10.004

Neonatal diabetes mellitus due to a novel variant in the INS gene

S. Laurenzano, Cory McFall, Linda Nguyen, et al.. (2019). Cold Spring Harbor Molecular Case Studies. Cited 10 times. https://doi.org/10.1101/mcs.a004085

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation

Laura V. Milko, Flavia Chen, Kee Chan, et al.. (2019). NPJ Genomic Medicine. Cited 8 times. https://doi.org/10.1038/s41525-019-0105-8