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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 - 2025
- 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. 2024-12-16 - MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.Maolei Gong, Jiayi Li, Zailong Qin, Matheus Vernet Machado Bressan Wilke, Yijun Liu
American Journal of Human Genetics. 2024-11-07 - 6 citationsAdaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.Angela Gwaltney, Sarah Nelson Potter, Sarika U Peters, Rene L Barbieri-Welge, Lucia T Horowitz
Journal of Autism and Developmental Disorders. 2024-10-01
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