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Office
2930 Craig Drive
Salt Lake City, UT 84109Phone+1 801-274-2404
Education & Training
University of the WitwatersrandClass of 1976
Certifications & Licensure
UT State Medical License 1998 - 2018- American Board of Medical Genetics and Genomics Clinical Genetics
Publications & Presentations
PubMed
- 151 citationsGenotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.Pinar Bayrak-Toydemir, Jamie McDonald, Boaz A. Markewitz, Susan O. Lewin, Franklin J. Miller
American Journal of Medical Genetics. Part A. 2006-03-01 - 156 citationsMalfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.Kazuya Kashiyama, Yuka Nakazawa, Daniela T. Pilz, Guo Chaowan, Mayuko Shimada
American Journal of Human Genetics. 2013-05-02 - 282 citationsThe genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomiesJan O. Korbel, Tal Tirosh-Wagner, Alexander E. Urban, Xiao Ning Chen, Maya Kasowski
Proceedings of the National Academy of Sciences of the United States of America. 2009-07-21
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