The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation

by Kristen N. Lee, Wendy Uhlmann, Lauren Hipp, Shane C. Quinonez
Published 2020-12-01

Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte

by Shane C. Quinonez, Andrea H. Seeley, Mary Seeterlin, Eleanor Stanley, Ayesha Ahmad
Published 2014-01-01

DNA Ligase IV Syndrome: A Rare Cause of Growth Failure & Hypogonadism

by Jennifer J. Iyengar, MD, Shane C. Quinonez, MD, Nataliya Razumilava, MD, Barbara Soyster, MD, Yolanda R. Smith, MD, Mark T. Vander Lugt, MD, Jennifer Wyckoff, MD
Published 2019-03-01

The introduction of genetic counseling in Ethiopia: Results of a training workshop and lessons learned.

by Shane C Quinonez, Bridget C O'Connor, Michelle F Jacobs, Atnafu Mekonnen Tekleab, Ayalew Marye, Delayehu Bekele, Beverly M Yashar, Erika Hanson, Abate Yeshidinber, Getahun Wedaje
Published 2021-01-01