Clinicn Investigator, Full Prf Genetics Program, Mass General Research Institute

Professor of Pediatrics, Part-time Harvard Medical School

Pediatrician Pediatrics-Genetics, Massachusetts General Hospital

MD Jefferson Medical College 1980

abnormalities multiple; auriculo-condylar syndrome; branchio-oto-renal syndrome; cardiovascular abnormalities; congenital abnormalities; costello syndrome; deletion 2q23.1; heart defects congenital; macrocephly-capillary malformation; myhre syndrome; rasopathy syndromes; smad4 mutations; turner syndrome 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, macrocephly-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 Defecs 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 is assisting in the Zika virus rapid ascertainment program.