Amy Roberts

Dr. Roberts obtained her M.D. degree from Dartmouth Medical School in Hanover, NH. Following Pediatrics residency at the University of Massachusetts Medical Center, she completed a second residency in medical genetics at Harvard Medical School. In 2007 she joined the Department of Cardiology at Boston Children’s Hospital to direct cardiovascular genetic research and to work in the cardiovascular genetics clinic caring for children with a variety of syndromic and nonsyndromic genetically acquired congenital heart diseases and cardiomyopathies.

Selected Publications:

1. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan; 39(1):70-4.
2. Smpokou P, Tworog-Dube E, Kucherlapati RS, Roberts AE. Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. Am J Med Genet A. 2012 Dec; 158A(12):3106-11.
3. Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8.
4. Zaidi S, Choi M, Wakimoto H, et.al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013 Jun 13; 498(7453):220- 3.
5. Pierpont EI, Tworog-Dube E, Roberts AE. Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings. Dev Med Child Neurol. 2015 Apr;57(4):385-92.
6. Cordeddu, V, Yin, J, Gunnarson, C, et al. Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome. Human Mutation, In Press