Publications

Select Recent Publications

Nagaraj S, Harish V, McCoy LG, et al.
From Clinic to Computer and Back Again: Practical Considerations When Designing and Implementing Machine Learning Solutions for Pediatrics.
[published online ahead of print, 2020 Sep 15].
Current Treatment Options in Pediatrics. 2020;1-14. 

Chang, W.H., Mashouri, P., Lozano, A.X. et al.
Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Genet Med. 2020; 22: 1391–1400.

Turinsky, AL, Choufani, S, Lu, K, et al.
EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.
Human Mutation. 2020; 41: 1722– 1733.

Gonorazky HD, Naumenko S, Ramani AK, et al.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
The American Journal of Human Genetics. 2019;104(3):466-483.

Dzamba M, Ramani AK, Buczkowicz P, et al.
Identification of complex genomic rearrangements in cancers using CouGaR.
Genome Res. 2017;27(1):107-117.