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AMIA Joint Summits on Translational Science Proceedings. AMIA Joint Summits on Translational Science|December 5, 2013
Standardizing Phenotype Variables in the Database of Genotypes and phenotypes (dbGaP) based on Information ModelsKo-Wei Lin, Alexander Hsieh, Seena Farzaneh, et al.Plos One|September 24, 2013
Feasibility of using Clinical Element Models (CEM) to standardize phenotype variables in the database of genotypes and phenotypes (dbGaP)Ko-Wei Lin, Melissa Tharp, Mike Conway, et al.NPJ Genomic Medicine|August 28, 2019
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genesPamela Feliciano, Xueya Zhou, Irina Astrovskaya, et al.Circulation|March 21, 2020
Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial HypertensionFrançois Potus, Michael W Pauciulo, Elina K Cook, et al.Genome Medicine|May 1, 2020
EM-mosaic detects mosaic point mutations that contribute to congenital heart diseaseAlexander Hsieh, Sarah U Morton, Jon A L Willcox, et al.Pageof 1