About Angela Lin, MD

Angela E. Lin, MD is a Board-certified pediatrician and clinical geneticist who is dedicated to the care of people with physical differences, especially syndromes which involve the cardiovascular system. She is active in numerous research projects, and has published over 100 articles and chapters. She  is committed to teaching families and trainees.

Dr. Lin attended St. Joseph's University and Thomas Jefferson University in Philadelphia, and completed a pediatric residency at Children's Hospital of Pittsburgh. After a fellowship in pediatric cardiology at UCLA, and additional training at the Children's Hospital of Philadelphia, she completed a genetics fellowship at the West Penn Hospital in Pittsburgh. From 1990-1994, she worked at the National Birth Defects Center in Boston. After a maternity leave, she joined the Massachusetts General Hospital in 1997, where she is a Staff Geneticist, and a Professor in Pediatrics, Part-Time at Harvard Medical School.

In 2011, she and Dr. Lynne Levitsky started the multi-specialty Turner Syndrome Clinic, joined in 2012 by Dr. Frances Hayes (REU). She has been a member of the Professional Advisory Board of the Turner Syndrome Society of the United States for 10 years. She co-founded the MGH HHT Center in 2010, and now, as a Center of Excellence, directs the pediatric and genetics sections. Recently, she organized a national clinic committed to Myhre Syndrome, with Dr. Mark Lindsay from pediatric cardiology.  Dr. Lin also developed a clinical cardiogenetics service, sees patients with "RASopathy" syndromes and works closely with the craniofacial team. 

Dr. Lin also works in birth defects surveillance at the MA Dept. of Public Health, Birth Defects Monitoring Program. She was an Associate Editor of the American Journal of Medical Genetics until 2016, and remains on the Editorial Board. She is committed to teaching trainees at all levels.

Clinical Interests:




Mass General for Children: Genetics Program
55 Fruit St.
Yawkey Center for Outpatient Care
Suite 6C
Boston, MA 02114
Phone: 617-726-1561

Medical Education

  • MD, Jefferson Medical College
  • Residency, Children Hospital of Pittsburgh
  • Fellowship, Children's Hospital of Philadelphia
  • Fellowship, Ronald Reagan UCLA Medical Center
  • Fellowship, Ronald Reagan UCLA Medical Center
  • Fellowship, Western Pennsylvania Hospital

American Board Certifications

  • Clinical Genetics, American Board of Medical Genetics and Genomics
  • Pediatrics, American Board of Pediatrics

Accepted Insurance Plans

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Dr. Lin is a medical geneticist clinical researcher who has delineated the clinical and molecular aspects of several malformation syndromes in major reviews (CHARGE, BOFS, Sensenbrenner, MMF embryopathy), as well as contributing cases to define the molecular basis of new syndromes (Bosma syndrome/arhinia, Myhre syndrome, macrocephaly-capillary malformation, auriculo-condylar syndrome, deletion 2q23.1). Her specialty has been studying the pattern and frequency of cardiac abnormalities, especially Costello syndrome (and other RASopathy syndromes) and Turner syndrome, and most recently, the striking pattern in Myhre syndrome (SMAD4 mutations).

Dr. Lin is a frequent participant in research about birth defects, especially those which are identified through newborn surveillance. These projects have been conducted at the Brigham-Women's Malformation Surveillance Program, and as a consultant to the Massachusetts Center for Birth Defects Prevention. As part of the National Birth Defects Prevention Study (1997-2013), Dr. Lin has focused on congenital heart defects (CHDs), especially heterotaxy. She is a frequent collaborator in projects studying risk factors for CHDs, classification of CHDs, and currently, is contributing to the analysis of critical CHDs, and CHD prevalence in adults.  Through her participation as a consultant at the MA DPH, she assisted in the Zika virus rapid ascertainment program.


  • (N.B. PubMed lists another, "Lin AE")

    Select Publications:

    •  Milunsky J, . Lin A. 2008. TFAP2A mutations result in Branchio-Oculo-Facial syndrome. AJHG 82:1171.
    • Lin AE, et al. 2011. Clinical, pathological and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome. AJMG 155:486.
    • Lin AE, et al. 2013. Sensenbrenner syndrome (Cranioectodermal Dysplasia). AJMG 161A:2762.
    • Lin AE, et al., 2014. Laterality Defects in the National Birth Defects Prevention Study. AJMG 164A:2581
    • Lin AE, et al., 2016. Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes. AJMG 170:2617.
    • Prakash, S, .... Lin AE. 2019. "Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome. AJMG-C 181:36-42.


    • Gravholt CH, ....Lin AE, ... Backelajuw PF (19 authors). 2017. Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome. EJE 177:G1-70.
    • Lin AE, .... Gravholt CH (20 authors). 2019.  Recognition and management of adolescents and adults with Turner syndrome. AJMG 179:1987-2033.
    • Gripp KL, ... Lin, AE, ...Rauen, KA. et al. (18 authors). 2019. Costello syndrome: Clinical phenotype, genotype and management guidelines. AJMG 179:1725.


    • Lin AE, et al.  Branchio-Oculo-Facial syndrome (March 2018)
    • Gripp KW, Lin AE.  Costello syndrome (May 2009)
    • Starr LJ, Lindor NM, Lin A.  Myhre syndrome (April 2017)




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