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Office
56 Hobson St
Boston, MA 02135Phone+1 617-783-9813
Summary
- I am a pediatrician and a geneticist and specialized in ophthalmic genetics , founder of the European Society for Breastfeeding Support (SESAM) and founder and President of Innovative Medical Device startup i Sonic Medical developing precise non contact Tonometers .
Education & Training
Tufts Medical CenterResidency, Pediatrics, 1979 - 1982
OtherClass of 1979
Certifications & Licensure
MA State Medical License 1982 - 2026- American Board of Pediatrics Pediatrics
Publications & Presentations
PubMed
- Rett syndrome: a seminal book on extensive multidisciplinary analyses for rare disease.Pierre Bitoun
European journal of human genetics : EJHG. 2018-05-29 - 73 citationsA Restricted Repertoire of de Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann P. Wheeler, Anne Seawright
American Journal of Human Genetics. 2016-05-05 - 150 citationsMutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham
American Journal of Human Genetics. 2014-05-01
Press Mentions
Bed Light Gets Kids to Sleep Right: Teach Good Bedtime Habits with RemiJanuary 3rd, 2017
Professional Memberships
- Member
- Member
- American Society of Human Genetics ASHGMember
- Association for Research in Vision and Ophthalmology ARVOMember
- European Society for Human Genetics ESHGMember
- European association for Vision and Eye Research EVERMember
Other Languages
- French
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