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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
- 7 citationsA novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis
Genetics in Medicine. 2022-07-01 - 7 citationsOne is the loneliest number: genotypic matchmaking using the electronic health record.Elly Brokamp, Mary Koziura, John A. Phillips, Leigh Anne Tang, Joy D. Cogan
Genetics in Medicine. 2021-07-06 - 14 citationsHeterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy L. Peirce
Genetics in Medicine. 2021-06-10
Press Mentions
- The AED (Antiepileptic Drug) Pregnancy RegistryA 6-Year ExperienceJanuary 13th, 2017
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