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Office
112 Colchester Avenue
Burlington, VT 05401Phone+1 802-847-4310Fax+1 802-847-4664
Education & Training
University of California (San Diego) Medical CenterResidency, Pediatrics, 1987 - 1989
University of North Carolina at Chapel Hill School of MedicineClass of 1987
Certifications & Licensure
CA State Medical License 1988 - Present
VT State Medical License 2000 - 2024
OH State Medical License 2020 - 2022
ME State Medical License 2018 - 2020
CT State Medical License 2018 - 2019
PA State Medical License 1994 - 2000
NC State Medical License 1992 - 1998
Awards, Honors, & Recognition
- Fellow (FAAP) American Academy of Pediatrics
Publications & Presentations
PubMed
- 14 citationsEP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.Jennifer L. Cohen, Samantha A. Schrier Vergano, Sarah Mazzola, Alanna Strong, Beth Keena
American Journal of Medical Genetics. Part A. 2020-10-11 - 127 citationsPIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda M. Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha
JCI Insight. 2016-06-16 - 30 citationsMarshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.Margaret P Adam, Raoul C.M. Hennekam, Laura D Keppen, Marilyn J. Bull, Carol L. Clericuzio
American Journal of Medical Genetics. Part A. 2005-08-30
Journal Articles
- Expanding the Clinical Phenotype of Individuals with a 3-Bp in-Frame Deletion of the NF1 Gene (c.2970_2972del): An Update of Genotype–Phenotype CorrelationRachel K Hachen, Elizabeth K Schorry, Arthur S Aylsworth, Katherine A Rauen, Ashraf Syed, Daryl A Scott, Lois J Starr, Donald G Basel, Lynne M Bird, Leah W Burke, Mari..., Nature
Professional Memberships
- Fellow
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