SeanEverettHofherrMD
Medical Genetics • Gaithersburg, MDClinical Biochemical Genetics, Clinical Molecular Genetics
Physician
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Office
207 Perry Pkwy
Gaithersburg, MD 20877Phone+1 301-519-2100Fax+1 202-476-2007
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
