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Publications

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing, Yang, Yaping, Muzny Donna M., Xia Fan, Niu Zhiyv, Person Richard, Ding Yan, Ward Patricia, Braxton Alicia, Wang Min, Buhay Christian, et al. , JAMA, 11/2014, Volume 312, Issue 18, p.1870, (2014)
A framework for the interpretation of de novo mutation in human disease, Samocha, Kaitlin E., Robinson Elise B., Sanders Stephan J., Stevens Christine, Sabo Aniko, McGrath Lauren M., Kosmicki Jack A., Rehnström Karola, Mallick Swapan, Kirby Andrew, et al. , Nature Genetics, 8/2014, Volume 46, Issue 9, p.944 - 950, (2014)
Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes, Li, Quan, Liu Xiaoming, Gibbs Richard A., Boerwinkle Eric, Polychronakos Constantin, and Qu Hui-Qi , PLoS ONE, 8/2014, Volume 9, Issue 8, p.e104452, (2014)
Whole-genome sequence–based analysis of high-density lipoprotein cholesterol, Morrison, Alanna C., Voorman Arend, Johnson Andrew D., Liu Xiaoming, Yu Jin, Li Alexander, Muzny Donna, Yu Fuli, Rice Kenneth, Zhu Chengsong, et al. , Nature Genetics, 6/2013, Volume 45, Issue 8, p.899 - 901, (2013)


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