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Office
300 Longwood Ave
Boston, MA 02115Phone+1 617-355-6394Fax+1 617-730-0466
Education & Training
- Stanford Health Care-Sponsored Stanford UniversityResidency, Pediatrics, 1967 - 1969
- Jacobi Medical CenterInternship, Transitional Year, 1964 - 1965
- University of Rochester School of Medicine and DentistryClass of 1964
Certifications & Licensure
- MA State Medical License 1999 - 2025
- MO State Medical License 1972 - 2016
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Publications & Presentations
PubMed
- 122 citationsCopy number variation plays an important role in clinical epilepsyHeather E. Olson, Yiping Shen, Jennifer Avallone, Beth Rosen Sheidley, Rebecca Pinsky
Annals of Neurology. 2014-06-01 - 73 citationsMutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.Catherine A. Brownstein, Meghan C. Towne, Lovelace J. Luquette, David J. Harris, Nicholas S. Marinakis
European Journal of Medical Genetics. 2013-12-01 - 52 citationsHaploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palateAmelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski, Carrie Hanscom, Ian Blumenthal
Human Genetics. 2013-01-25
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