Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3

by Hoppman, Nicole, Aypar, Umut, Brodersen, Pamela, Brown, Neil, Wilson, Justin, Babovic-Vuksanovic, Dusica
Published 2013

Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features

by Aypar, Umut, Hoppman, Nicole L., Thorland, Erik C., Dawson, D. Brian
Published 2016

Genetic and Epigenetic Changes in Chromosomally Stable and Unstable Progeny of Irradiated Cells

by Baulch, Janet E., Aypar, Umut, Waters, Katrina M., Yang, Austin J., Morgan, William F.
Published 2014

Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia

by Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D׳Aco, Kristin
Published 2015

False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13

by Cao, Yang, Hoppman, Nicole L., Kerr, Sarah E., Sattler, Christopher A., Borowski, Kristi S., Wick, Myra J., Highsmith, W. Edward, Aypar, Umut
Published 2016

Impact of RNA degradation on fusion detection by RNA-seq

by Davila, Jaime I., Fadra, Numrah M., Wang, Xiaoke, McDonald, Amber M., Nair, Asha A., Crusan, Barbara, R., Wu, Xianglin, Blommel, Joseph H., Jen, Jin, Rumilla, Kandelaria M., Jenkins, Robert B., Aypar, Umut, Klee, Eric W., Kipp, Benjamin R., Halling, Kevin C.
Published 2016