Amy Roberts, MD

Amy Roberts, MD

Director, Cardiovascular Genetics Research Program

Assistant Professor of Pediatrics, Harvard Medical School

Medical Services

Specialties

  • Cardiovascular Genetics
  • Clinical Genetics
  • Noonan Syndrome
  • Cardiology

Departments

  • Cardiology
  • Cardiovascular Program
  • Genetics and Genomics
  • Medicine

Languages

  • English

Programs

  • Cardiovascular Genetics Program
  • Cardiology Outpatient Services
To schedule an appointment: Call 617-355-8794 or Request an Appointment
Amy Roberts, MD

Dr. Roberts is originally from Acton, MA and has been in Boston since 2001 when she joined the Harvard Medical School Genetics Training Program.  

Her philosophy of care is to treat each child as an individual and to understand their needs not only in the context of a genetic diagnosis but also how that influences their school, social, and family life. Dr. Roberts fell in love with the discipline of genetics when she was a pediatrics resident. She feels that this is the most exciting time in medicine to practice as a geneticist, as we have never before available tools to understand the genetic underpinnings of cardiovascular disease. With these new tests though comes increased responsibility to practice responsibly, ethically, and always with the best interest of the child and his or her family foremost in mind.

Experience and Education

Education

Undergraduate Degree

Swarthmore College, 1994

Swarthmore, PA

Medical School

Dartmouth Medical School, 1998

Hanover, NH

Internship

University of Massachusetts Medical Center, 1999

Worcester, MA

Residency

University of Massachusetts Medical Center, 2001

Worcester, MA

Residency

Harvard Medical School Genetics Training Program, 2004

Boston, MA

Certifications

  • Pediatrics, Medical Genetics

Professional History

Dr. Roberts is trained in both clinical genetics and pediatrics. Her research focuses on genotype phenotype correlations in Noonan syndrome and other Rasopathies and Noonan syndrome gene discovery. She also is interested in genetic causes of congenital heart disease. Dr. Roberts is the Director of the Boston Children’s Hospital Cardiac Gene Project (BCH CGP), a registry and DNA repository for families affected by congenital heart disease. She is the director of clinical cardiovascular genetic research for the department. Her principal clinical activities involve a cardiovascular genetics clinic and inpatient consultation for children with a potential genetic cause of their congenital heart disease. Her interests include Noonan syndrome, CFC syndrome, Williams syndrome, hypoplastic left heart syndrome, 22q11 deletion syndrome and cardiomyopathy.

Publications

Publications powered by Harvard Catalyst Profiles
  1. Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet. 2016 Mar; 135(3):273-85.
  2. Bellinger DC, Watson CG, Rivkin MJ, Robertson RL, Roberts AE, Stopp C, Dunbar-Masterson C, Bernson D, DeMaso DR, Wypij D, Newburger JW. Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure. J Am Heart Assoc. 2015 Dec; 4(12).
  3. Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015 Dec 4; 350(6265):1262-6.
  4. Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat. 2015 Nov; 36(11):1080-7.
  5. Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. Am J Hum Genet. 2015 May 7; 96(5):753-64.
  6. Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet. 2015 Apr 15; 24(8):2375-89.
  7. Geng J, Picker J, Zheng Z, Zhang X, Wang J, Hisama F, Brown DW, Mullen MP, Harris D, Stoler J, Seman A, Miller DT, Fu Q, Roberts AE, Shen Y. Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics. 2014; 15:1127.
  8. 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.
  9. Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2014 Oct; 134(4):e1149-62.
  10. 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.
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  12. Wang G, McCain ML, Yang L, He A, Pasqualini FS, Agarwal A, Yuan H, Jiang D, Zhang D, Zangi L, Geva J, Roberts AE, Ma Q, Ding J, Chen J, Wang DZ, Li K, Wang J, Wanders RJ, Kulik W, Vaz FM, Laflamme MA, Murry CE, Chien KR, Kelley RI, Church GM, Parker KK, Pu WT. Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. Nat Med. 2014 Jun; 20(6):616-23.
  13. Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, Zhang SC, Fodale V, Bocchinfuso G, Rossi C, Burkitt-Wright EM, Farrotti A, Stellacci E, Cecchetti S, Ferese R, Bottero L, Castro S, Fenneteau O, Brethon B, Sanchez M, Roberts AE, Yntema HG, Van Der Burgt I, Cianci P, Bondeson ML, Cristina Digilio M, Zampino G, Kerr B, Aoki Y, Loh ML, Palleschi A, Di Schiavi E, Carè A, Selicorni A, Dallapiccola B, Cirstea IC, Stella L, Zenker M, Gelb BD, Cavé H, Ahmadian MR, Tartaglia M. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Hum Mol Genet. 2014 Aug 15; 23(16):4315-27.
  14. Prendiville TW, Gauvreau K, Tworog-Dube E, Patkin L, Kucherlapati RS, Roberts AE, Lacro RV. Cardiovascular disease in Noonan syndrome. Arch Dis Child. 2014 Jul; 99(7):629-34.
  15. Fahed AC, Roberts AE, Mital S, Lakdawala NK. Heart failure in congenital heart disease: a confluence of acquired and congenital. Heart Fail Clin. 2014 Jan; 10(1):219-27.
  16. Pierpont EI, Tworog-Dube E, Roberts AE. Learning and memory in children with Noonan syndrome. Am J Med Genet A. 2013 Sep; 161A(9):2250-7.
  17. Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013 Jun 13; 498(7453):220-3.
  18. Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet. 2013 Jan 26; 381(9863):333-42.
  19. 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.
  20. Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M, Geva J, Byrne BJ, Spencer CT. The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A. 2012 Nov; 158A(11):2726-32.
  21. Lage K, Greenway SC, Rosenfeld JA, Wakimoto H, Gorham JM, Segrè AV, Roberts AE, Smoot LB, Pu WT, Pereira AC, Mesquita SM, Tommerup N, Brunak S, Ballif BC, Shaffer LG, Donahoe PK, Daly MJ, Seidman JG, Seidman CE, Larsen LA. Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci U S A. 2012 Aug 28; 109(35):14035-40.
  22. Briere LC, Roberts AE, Joshi V. Correspondence regarding genetic assessment following increased nuchal translucency and normal karyotype. Prenat Diagn. 2012 Jun; 32(6):607-8; author reply 609-10.
  23. Kowalczyk MS, Hughes JR, Babbs C, Sanchez-Pulido L, Szumska D, Sharpe JA, Sloane-Stanley JA, Morriss-Kay GM, Smoot LB, Roberts AE, Watkins H, Bhattacharya S, Gibbons RJ, Ponting CP, Wood WG, Higgs DR. Nprl3 is required for normal development of the cardiovascular system. Mamm Genome. 2012 Aug; 23(7-8):404-15.
  24. Hoban R, Roberts AE, Demmer L, Jethva R, Shephard B. Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. Am J Med Genet A. 2012 Jun; 158A(6):1411-3.
  25. Lakdawala NK, Funke BH, Baxter S, Cirino AL, Roberts AE, Judge DP, Johnson N, Mendelsohn NJ, Morel C, Care M, Chung WK, Jones C, Psychogios A, Duffy E, Rehm HL, White E, Seidman JG, Seidman CE, Ho CY. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303.
  26. Coulter ME, Miller DT, Harris DJ, Hawley P, Picker J, Roberts AE, Sobeih MM, Irons M. Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6.
  27. Yusupov R, Roberts AE, Lacro RV, Sandstrom M, Ligon AH. Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. Am J Med Genet A. 2011 Feb; 155A(2):367-71.
  28. Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct; 126(4):746-59.
  29. Lage K, Møllgård K, Greenway S, Wakimoto H, Gorham JM, Workman CT, Bendsen E, Hansen NT, Rigina O, Roque FS, Wiese C, Christoffels VM, Roberts AE, Smoot LB, Pu WT, Donahoe PK, Tommerup N, Brunak S, Seidman CE, Seidman JG, Larsen LA. Dissecting spatio-temporal protein networks driving human heart development and related disorders. Mol Syst Biol. 2010 Jun 22; 6:381.
  30. Pierpont EI, Ellis Weismer S, Roberts AE, Tworog-Dube E, Pierpont ME, Mendelsohn NJ, Seidenberg MS. The language phenotype of children and adolescents with Noonan syndrome. J Speech Lang Hear Res. 2010 Aug; 53(4):917-32.
  31. Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Rauen KA, Seidenberg MS. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. Am J Med Genet A. 2010 Mar; 152A(3):591-600.
  32. 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 from 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.
  33. Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti 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.
  34. Lee I, Pecinova A, Pecina P, Neel BG, Araki T, Kucherlapati R, Roberts AE, Hüttemann M. A suggested role for mitochondria in Noonan syndrome. Biochim Biophys Acta. 2010 Feb; 1802(2):275-83.
  35. Sheehan WJ, Delmonte OM, Miller DT, Roberts AE, Bonilla FA, Morra M, Giliani S, Pai SY, Notarangelo LD, Oettgen HC. Novel presentation of Omenn syndrome in association with aniridia. J Allergy Clin Immunol. 2009 Apr; 123(4):966-9.
  36. Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS. Genotype differences in cognitive functioning in Noonan syndrome. Genes Brain Behav. 2009 Apr; 8(3):275-82.
  37. 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.
  38. Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 1; 358(18):1899-908.
  39. Kratz CP, Niemeyer CM, Thomas C, Bauhuber S, Matejas V, Bergsträsser E, Flotho C, Flores NJ, Haas O, Hasle H, van den Heuvel-Eibrink MM, Kucherlapati RS, Lang P, Roberts AE, Starý J, Strahm B, Swanson KD, Trebo M, Zecca M, Neel B, Locatelli F, Loh ML, Zenker M. Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia. Leukemia. 2007 May; 21(5):1108-9.
  40. 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.
  41. Patel AM, Kim JB, Roberts AE, Aragam J. Double-chambered right ventricle in an adult with Noonan syndrome. Cardiol Rev. 2006 Sep-Oct; 14(5):e16-20.
  42. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006 Aug 24; 355(8):788-98.
  43. Roberts AE, Hult B, Rehm HL, Rehm HL, McDonough B, Barr S, Seidman CE, Seidman JG, Kucherlapati RS. The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy. Am J Med Genet A. 2005 Jan 30; 132A(3):333-4.
  44. Roberts AE, Rehm H, McDonough B, Barr S, Seidman C, Seidman J, Kucherlapati R. The PTPN11 gene and nonsyndromic isolated hypertrophic cardiomyopathy: no evidence of a causal link. Am J Med Genet. 2005; 132A(3).
  45. Roberts AE, Irons MB, Kimonis VE, Mulliken JB, Morton CC, Lee C, Listewnik M. Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Am J Med Genet A. 2004 Oct 1; 130A(2):204-7.
  46. Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A. 2004 Aug 1; 128A(4):352-63.
  47. Ostroy SE, Roberts AE, Knapp-Miller J, Spisak JM. Availability of 11-cis retinal and opsins without chromophore as revealed by small bleaches of rhodopsin in excised albino mouse eyes. Vision Res. 2003 Dec; 43(28):3069-73.
  48. Demmer LA, O'Neill MJ, Roberts AE, Clay MC. Knowledge of ethical standards in genetic testing among medical students, residents, and practicing physicians. JAMA. 2000 Nov 22-29; 284(20):2595-6.
  49. Atkins KM, Roberts AE, Cochran N. . How Medical Students Can Bring About Curricular Change. Academic Medicine. 1998; 73(11):1173-6.
To schedule an appointment: Call 617-355-8794 or Request an Appointment

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