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Office
111 Michigan Ave Nw
Laboratory Medicine
Washington, DC 20010Phone+1 202-476-2033Fax+1 202-476-2007- Is this information wrong?
Summary
- Dr. Sean Hofherr, MD is a board certified medical geneticist in Washington, District of Columbia.
Certifications & Licensure
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Molecular Genetics
Publications & Presentations
PubMed
- 9 citationsInterference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.Renkui Bai, Hong Cui, Joseph M. Devaney, Katrina M. Allis, Amanda Balog, Xinyue Liu, Rhonda E. Schnur, Faye L. Shapiro, Ariel Brautbar, Juvianee I. Estrada-Veras, Laur...> ;Genetics in Medicine. 2021 Apr 12
- 7 citationsIntellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.David Isum Ward, Bethany A. Buckley, Eyby Leon, Jullianne Diaz, Margaret Faust Galegos, Sean E. Hofherr, Amy Feldman Lewanda> ;American Journal of Medical Genetics. Part A. 2018 Jan 17
- 1 citationsTime-dependent negative bias in plasma ammonia samples in a clinical setting.Omar B. Ayyub, Sean E. Hofherr, Kristina Cusmano-Ozog, Nicholas Ah Mew> ;Clinica Chimica Acta; International Journal of Clinical Chemistry. 2017 May 10
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Press Mentions
- OPKO Health's GeneDx Adds Repeat Expansion Analysis Genetic Tests for Diagnosis of Spinocerebellar Ataxia (SCA), Friedreich Ataxia, and Other Common Forms of Hereditary AtaxiaJanuary 26th, 2021