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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
- 137 citationsMARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.Julia Wang, Rami Al-Ouran, Yanhui Hu, Seon Young Kim, Ying-Wooi Wan
American Journal of Human Genetics. 2017-06-01 - 55 citationsBiallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez
American Journal of Human Genetics. 2018-03-01 - 78 citationsA Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3Hsiao-Tuan Chao, Mariska Davids, Elizabeth A. Burke, John Pappas, Jill A. Rosenfeld
American Journal of Human Genetics. 2017-01-05
Press Mentions
- The AED (Antiepileptic Drug) Pregnancy RegistryA 6-Year ExperienceJanuary 13th, 2017
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