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Office
175 Cambridge St
Massachusetts General Hospital
Boston, MA 02114Phone+1 617-726-1561Fax+1 617-726-1566
Education & Training
- University of WashingtonFellowship, Pediatric Hematology/Oncology, 1997 - 2000
- University of WashingtonResidency, Medical Genetics and Genomics, 1992 - 1997
- Washington University/B-JH/SLCH ConsortiumResidency, Pediatrics, 1989 - 1992
- Washington University in St. Louis School of MedicineClass of 1989
Certifications & Licensure
- MA State Medical License 2003 - 2026
- ME State Medical License 2021 - 2026
- NH State Medical License 2021 - 2025
- RI State Medical License 2021 - 2024
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Pediatrics Pediatrics
- American Board of Pediatrics Pediatric Hematology-Oncology
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Regional Top Doctor Castle Connolly, 2019
- Fellow (FAAP) American Academy of Pediatrics
Clinical Trials
- Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network Start of enrollment: 2015 Sep 16
Roles: Contact
Publications & Presentations
PubMed
- 183 citationsPanel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencingMark Consugar, Daniel Navarro-Gomez, Emily Place, Kinga M. Bujakowska, Maria E. Sousa
Genetics in Medicine. 2015-04-01 - 119 citationsThe Undiagnosed Diseases Network: Accelerating Discovery about Health and DiseaseRachel B. Ramoni, John J. Mulvihill, David R. Adams, Patrick Allard, Euan A. Ashley
American Journal of Human Genetics. 2017-02-02 - 136 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
Press Mentions
- Recent Mass General Research Awards and Honors (Part 2)August 6th, 2019
- Chinatown Swimmer Join Swim Across America for the 23rd Annual Boston Harbor Swim, July 12June 15th, 2019
- Season of HopeMarch 8th, 2019
- Join now to see all
Grant Support
- Molecular Analysis Of Del(9q) Acute Myeloid LeukemiaNational Cancer Institute2006–2010
Professional Memberships
- Fellow
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