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Office
300 Longwood Ave
Children's Hospital
Boston, MA 02115Phone+1 617-355-6394Fax+1 617-730-0466
Education & Training
- Massachusetts General HospitalFellowship, Clinical Biochemical Genetics, 1990 - 1993
- Boston Children’s Hospital/Boston Medical CenterFellowship, Adolescent Medicine, 1984 - 1985
- Tufts Medical CenterResidency, Pediatrics, 1981 - 1984
- Columbia University Vagelos College of Physicians and SurgeonsClass of 1981
Certifications & Licensure
- VT State Medical License 2021 - 2026
- MA State Medical License 1984 - 2025
- ME State Medical License Active through 2007
- RI State Medical License 1995 - 1997
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Regional Top Doctor Castle Connolly, 2014
Publications & Presentations
PubMed
- 3 citationsMono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.Shreyas Bhat, Justine Rousseau, Coralie Michaud, Charles Marques Lourenço, Joan M Stoler
American Journal of Human Genetics. 2024-04-04 - Regulatory elements in(7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.Paola Nicoletti, Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick
Genetics in Medicine Open. 2024-01-01 - 6 citationsHeterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.Mythily Ganapathi, Leticia S Matsuoka, Michael March, Dong Li, Elly Brokamp
European Journal of Human Genetics. 2023-10-01
Press Mentions
- The AED (Antiepileptic Drug) Pregnancy RegistryA 6-Year ExperienceJanuary 13th, 2017
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