Search Results - "Yoon, Amanda J."

Genetic Screening in Patients with Craniofacial Malformations by Yoon, Amanda J, Pham, Binh N, Dipple, Katrina M

“…Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial…”
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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases by Lee, Hane, Huang, Alden Y., Wang, Lee-kai, Yoon, Amanda J., Renteria, Genecee, Eskin, Ascia, Signer, Rebecca H., Dorrani, Naghmeh, Nieves-Rodriguez, Shirley, Wan, Jijun, Douine, Emilie D., Woods, Jeremy D., Dell’Angelica, Esteban C., Fogel, Brent L., Martin, Martin G., Butte, Manish J., Parker, Neil H., Wang, Richard T., Shieh, Perry B., Wong, Derek A., Gallant, Natalie, Singh, Kathryn E., Tavyev Asher, Y. Jane, Sinsheimer, Janet S., Krakow, Deborah, Loo, Sandra K., Allard, Patrick, Papp, Jeanette C., Palmer, Christina, Martinez-Agosto, Julian A., Nelson, Stanley F.

“…We investigated the value of transcriptome sequencing (RNAseq) in ascertaining the consequence of DNA variants on RNA transcripts to improve the diagnostic…”
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