
Joan Marilyn Stoler MD
Clinical Biochemical Genetics, Clinical Genetics
Associate Professor of Pediatrics, Boston Children's Hospital
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300 Longwood AveChildren's HospitalBoston, MA 02115
Phone+1 617-355-6394
Fax+1 617-730-0466
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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
MA State Medical License 1984 - 2027
VT State Medical License 2021 - 2026
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
- 19 citationsGenetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report.Lance H Rodan, Joan Stoler, Emily Chen, Timothy Geleske,
Pediatrics. 2025-07-01 - 6 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 - 3 citationsRegulatory 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
Press Mentions
Docs Urged to Use Genome Tests to Diagnose Kids EarlyJune 24th, 2025- The AED (Antiepileptic Drug) Pregnancy RegistryA 6-Year ExperienceJanuary 13th, 2017
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