AngelaELinMD

PubMed

• 499 citations
  Guidelines for case classification for the National Birth Defects Prevention Study.
  Sonja A. Rasmussen, Richard S. Olney, Lewis B. Holmes, Angela E. Lin, Kim M. Keppler-Noreuil
  Birth Defects Research. Part A, Clinical and Molecular Teratology. 2003-03-01
• 588 citations
  Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
  Claus Højbjerg Gravholt, Niels Holmark Andersen, Gerard S. Conway, Olaf M. Dekkers, Mitchell E. Geffner
  European Journal of Endocrinology. 2017-09-01
• 516 citations
  De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
  Jean Baptiste Rivière, Ghayda M. Mirzaa, Brian J. O'Roak, Margaret Beddaoui, Diana Alcantara
  Nature Genetics. 2012-08-01

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 Patients  
  Karen 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