Amy E. Roberts, MD

Department	Cardiology
Hospital Title	Principal Investigator
Academic Title	Assistant Professor of Pediatrics
Phone	617-355-8794
Fax	617-739-6282
Email	Amy E. Roberts
Location	300 Longwood Avenue Boston MA 02115

Research Overview

Dr. Roberts is the director of the Children’s Hospital Boston Cardiac Gene Project (CHB CGP). This is a department wide patient registry and DNA repository for children with heart disease and much of her research focuses on cardiac gene discovery.

About Amy E. Roberts, MD:

Dr. Roberts received her medical degree from Dartmouth Medical School, Hanover, New Hampshire. She trained in pediatrics at the University of Massachusetts Medical Center, and in medical genetics in the Harvard Medical School Clinical Genetics Training Program.

Key Publications:

Loeys BL, Schwarze Ulrike, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvriere S, Roberts A, Faravelli F, Greco MA, Pyeritz R, Milewicz DM, Coucke PJ, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Aneurysm Syndromes Associated Presentation, natural history and management in TGFBR1 or TGFBR2 encoding transforming growth factor-beta receptors. N Engl J Med. 2006 Aug 24;355(8):788-98.

Roberts AE, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G. The Cardiofaciocutaneous syndrome: A Review. J Med Genet. 2006 Nov;43(11):833-42.

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, 39(1):70-74.

Joshi VA, Roberts AE. Noonan syndrome associated congenital hypertrophic cardiomyopathy and the role of sarcomere gene mutations. Progress In Pediatric Cardiology. 2007, 24:75-76.

Morita H, Rehm HL, Menesses AD, McDonough B, Bowles NE, Roberts AE, Kucherlapati R, Towbin JA, Seidman CE, Seidman JG. Gene mutations in childhood-onset cardiac hypertrophy. NEJM. 2008 358(18):1899-908.

Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May;82(5):1171-7.

Joshi VA, Roberts AE, Kucherlapati R. (2008). Towards a Treatment for RAS-MAPK Pathway Disorders. In: Zenker, M. Noonan Syndrome and Related Disorders: A Matter of Deregulated Ras Signaling. Basel: Karger. 151-164.

Roberts, AE. (2008). The Clinical Phenotype of Cardio-Facio-Cutaneous Syndrome (CFC). In: Zenker, M. Noonan Syndrome and Related Disorders: A Matter of Deregulated Ras Signaling. Basel: Karger. 66-72.

Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS. Genotype differences in cognitive functioning in Noonan syndrome. Genes, Brain, and Behavior 2009 Apr;8(3):275-82. PMID 19077116

Lee I, Pecinova A, Pecina P, Neel BG, Araki T, Kucherlapati R, Roberts AE, Huttemann M. A suggested role for mitochondria in Noonan syndrome. BBA Molecular Basis of Disease Biochim Biophys Acta. 2009 Oct 14. [Epub ahead of print]

Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, Konig R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Massanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010 Jan;42(1):27-9. PMID: 19966803

Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T. Proceedings of the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A. 2010 Jan;152A(1):4-24. PMID: 20014119

Pierpont, E.I., Pierpont, M.E., Mendelsohn, N. J., Roberts, A.E., Tworog-Dube, E., Rauen, K.A., & Seidenberg, M.S. (2010). Effects of Germline Mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome. American Journal of Medical Genetics Part A. 152A: 591-600.