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Office
175 Cambridge St
Mass General for Children
Boston, MA 02114Phone+1 617-726-1561
Education & Training
- Allegheny General Hospital1987 - 1988
- Children's Hospital of PhiladelphiaFellowship, Pediatric Cardiology, 1985 - 1986
- UCLA David Geffen School of Medicine/UCLA Medical CenterFellowship, Pediatric Cardiology, 1984 - 1985
- UPMC Medical EducationResidency, Pediatrics, 1980 - 1983
- Sidney Kimmel Medical College at Thomas Jefferson UniversityClass of 1980
Certifications & Licensure
- MA State Medical License 1990 - 2025
- ME State Medical License 1991 - 2022
- RI State Medical License 2021 - 2022
- PA State Medical License 1981 - 1994
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Fellowship Teaching Award UCLA Dept. of Pediatrics
- Distinguished Service Award National Birth Defects Prevention Study, 2011
- Appreciation (Co-Director, Professional Advisory Board) Costello Syndrome Family Network, 2003
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Publications & Presentations
PubMed
- 4 citationsEmergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).Angela E Lin, Eleanor R Scimone, Robyn P Thom, Duraisamy Balaguru, T Bernard Kinane
American Journal of Medical Genetics. Part A. 2024-10-01 - 1 citationsSMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.Katherine A Wood, R Spencer Tong, Marialetizia Motta, Viviana Cordeddu, Eleanor R Scimone
American Journal of Human Genetics. 2024-09-05 - Survival to Young Adulthood Among Individuals With Congenital Heart Defects and Genetic Syndromes: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being.Karrie F Downing, Angela E Lin, Wendy N Nembhard, Charles E Rose, Jennifer G Andrews
Journal of the American Heart Association. 2024-08-06
Journal Articles
- Gain-of function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.Lin AE, Alali A, Starr LJ, et al., Am J Med Genet Part A. 2019; 1–10, 2019
- Nonreentrant Atrial Tachycardia Occurs Independently of Hypertrophic Cardiomyopathy in RASopathy PatientsKaren W Gripp, Rosemarie Smith, Stephanie M Ware, Paula Goldenberg, Kathryn C Chatfield, Mark D Levin, Richard J Czosek, Elaine H Zackai, Angela E Lin, Tara L Wenger, ..., American Journal of Medical Genetics Part A
- Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.Lin AE, et al., American Journal of Medical Genetics, 2016
Authored Content
- NORD Myhre syndromeMarch 2020
Professional Memberships
- Fellow
- American College Medical GeneticsFellow
- American Society Human GeneticsMember
- Fellow
External Links
- MGH Turner Syndrome Clinichttp://www.massgeneral.org/children/services/treatmentprograms.aspx?id=1682
- MGH Myhre Syndrome Clinichttps://www.massgeneral.org/children/myhre-syndrome
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