Naghmeh Dorrani

VarSight: prioritizing clinically reported variants with binary classification algorithms

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

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Joon-Yong An, Stephan J. Sanders, 2017, Genome Biology.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Eric Vilain, Samuel P Strom, Michelle Fox, 2014, JAMA.