
Sean Everett Hofherr MD
Clinical Biochemical Genetics, Clinical Molecular Genetics
Physician
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207 Perry PkwyGaithersburg, MD 20877
Phone+1 301-519-2100
Fax+1 202-476-2007
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Summary
- Dr. Sean Hofherr, MD is a board certified medical geneticist in Gaithersburg, Maryland.
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 citationsExpanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.Alban Ziegler, Carrie Koval-Burt, Denise M Kay, Sharon F Suchy, Amber Begtrup
JAMA. 2025-01-21 - 10 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
Genetics in Medicine. 2021-04-12 - 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
American Journal of Medical Genetics. Part A. 2018-01-17
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