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Office
Childrens Hospital
300 Longwood Avegenetics Feg
Boston, MA 02115Phone+1 617-355-6000Fax+1 617-730-0466
Education & Training
- Boston Children’s Hospital/Harvard Medical SchoolResidency, Medical Genetics and Genomics, 2003 - 2006
- Massachusetts General HospitalResidency, Pediatrics, 2001 - 2003
- University of Nottingham Medical SchoolClass of 1998
Certifications & Licensure
- MA State Medical License 2006 - 2027
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Clinical Trials
- Characterization of Angelman Syndrome Start of enrollment: 2006 Feb 01
- Dietary Supplements for the Treatment of Angelman Syndrome Start of enrollment: 2006 Jul 01
- Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome Start of enrollment: 2009 Jan 01
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Publications & Presentations
PubMed
- Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022).Adriana T Gomes, Amanda Moore, Meagan Cross, Cristy Hardesty, Kelly David
American Journal of Medical Genetics. Part A. 2025-04-01 - CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.Emmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, Maya Chopra, Muznah Khatoo
American Journal of Human Genetics. 2025-02-06 - is implicated in central nervous system, orofacial and maxillofacial anomalies.Jeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, Ramgopal Dhakar, Tikam Chand Dakal
Journal of Medical Genetics. 2025-01-27
Grant Support
- 2024 ASXL-Related Disorders Scientific Conference and Family MeetingUNIVERSITY OF CALIFORNIA LOS ANGELES2024–2025
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