Christine M. Eng

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Yong Huang, Alexa T. McCray, Pengfei Liu, 2019, BMC Bioinformatics.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Yanming Feng, Fan Xia, Tomasz Gambin, 2019, Genome Medicine.

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy.

Robert J. Desnick, Christine M. Eng, Matteo A. Russo, 2001, The New England journal of medicine.

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Donna M. Muzny, Yan Ding, Eric Boerwinkle, 2017, The New England journal of medicine.

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Yanming Feng, Fan Xia, Shashikant Kulkarni, 2019, Nature Medicine.

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

Matthew N. Bainbridge, Christine M. Eng, Regis A. James, 2016, Genome Medicine.