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

Philosophy of Care

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.

PROFESSIONAL HISTORY

Dr. Amy 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.

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. 

 

Dr. Robers serves as an expert for the Department of Cardiology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.

CERTIFICATIONS

  • American Board of Medical Genetics and Genomics, Clinical Genetics

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis. Children (Basel). 2021 Feb 10; 8(2). View abstract
  2. In Memoriam: Jaqueline A. Noonan. J Am Coll Cardiol. 2020 Sep 22; 76(12):1498-1500. View abstract
  3. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circ Genom Precis Med. 2020 08; 13(4):e002836. View abstract
  4. Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification. J Am Heart Assoc. 2020 06 02; 9(11):e016195. View abstract
  5. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. Am Heart J. 2020 07; 225:108-119. View abstract
  6. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. JACC Basic Transl Sci. 2020 Apr; 5(4):376-386. View abstract
  7. Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease. Cereb Cortex. 2020 03 21; 30(2):476-487. View abstract
  8. Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents. J Am Coll Cardiol. 2019 07 23; 74(3):346-358. View abstract
  9. Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue. Circulation. 2019 07 30; 140(5):390-404. View abstract
  10. Inducible Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome. Circulation. 2019 07 16; 140(3):207-224. View abstract
  11. Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing. Circ Genom Precis Med. 2019 03; 12(3):e002463. View abstract
  12. Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene. Stem Cell Res. 2019 01; 34:101374. View abstract
  13. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018 12 06; 103(6):1054-1055. View abstract
  14. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018 11 01; 103(5):786-793. View abstract
  15. The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One. 2018; 13(1):e0191319. View abstract
  16. Trisomy 13 and 18: Cardiac Surgery Makes Sense if It Is Part of a Comprehensive Care Strategy. Pediatrics. 2017 11; 140(5). View abstract
  17. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017 Nov; 49(11):1593-1601. View abstract
  18. Genetic contribution to neurodevelopmental outcomes in congenital heart disease: are some patients predetermined to have developmental delay? Curr Opin Pediatr. 2017 10; 29(5):529-533. View abstract
  19. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circ Cardiovasc Genet. 2017 Oct; 10(5). View abstract
  20. Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. Congenit Heart Dis. 2017 Jul; 12(4):475-483. View abstract
  21. Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. J Pediatr. 2017 06; 185:248-248.e1. View abstract
  22. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet. 2016 Mar; 135(3):273-85. View abstract
  23. Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure. J Am Heart Assoc. 2015 Dec 14; 4(12). View abstract
  24. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015 Dec 04; 350(6265):1262-6. View abstract
  25. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat. 2015 Nov; 36(11):1080-7. View abstract
  26. Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol. 2015 Jul 01; 39(1):13-19. View abstract
  27. 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 07; 96(5):753-64. View abstract
  28. 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. View abstract
  29. Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics. 2014 Dec 17; 15:1127. View abstract
  30. Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings. Dev Med Child Neurol. 2015 Apr; 57(4):385-92. View abstract
  31. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2014 Oct; 134(4):e1149-62. View abstract
  32. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 Aug 05; 111(31):11473-8. View abstract
  33. 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. View abstract
  34. 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. View abstract
  35. Cardiovascular disease in Noonan syndrome. Arch Dis Child. 2014 Jul; 99(7):629-34. View abstract
  36. Heart failure in congenital heart disease: a confluence of acquired and congenital. Heart Fail Clin. 2014 Jan; 10(1):219-27. View abstract
  37. Learning and memory in children with Noonan syndrome. . 2013 Sep; 161A(9):2250-7. View abstract
  38. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013 Jun 13; 498(7453):220-3. View abstract
  39. Noonan syndrome. Lancet. 2013 Jan 26; 381(9863):333-42. View abstract
  40. Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. . 2012 Dec; 158A(12):3106-11. View abstract
  41. The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study. . 2012 Nov; 158A(11):2726-32. View abstract
  42. 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. View abstract
  43. Correspondence regarding genetic assessment following increased nuchal translucency and normal karyotype. Prenat Diagn. 2012 Jun; 32(6):607-8; author reply 609-10. View abstract
  44. Nprl3 is required for normal development of the cardiovascular system. Mamm Genome. 2012 Aug; 23(7-8):404-15. View abstract
  45. Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. . 2012 Jun; 158A(6):1411-3. View abstract
  46. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303. View abstract
  47. Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6. View abstract
  48. Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. . 2011 Feb; 155A(2):367-71. View abstract
  49. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct; 126(4):746-59. View abstract
  50. Dissecting spatio-temporal protein networks driving human heart development and related disorders. Mol Syst Biol. 2010 Jun 22; 6:381. View abstract
  51. The language phenotype of children and adolescents with Noonan syndrome. J Speech Lang Hear Res. 2010 Aug; 53(4):917-32. View abstract
  52. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. . 2010 Mar; 152A(3):591-600. View abstract
  53. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. . 2010 Jan; 152A(1):4-24. View abstract
  54. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010 Jan; 42(1):27-9. View abstract
  55. A suggested role for mitochondria in Noonan syndrome. Biochim Biophys Acta. 2010 Feb; 1802(2):275-83. View abstract
  56. Novel presentation of Omenn syndrome in association with aniridia. J Allergy Clin Immunol. 2009 Apr; 123(4):966-9. View abstract
  57. Genotype differences in cognitive functioning in Noonan syndrome. Genes Brain Behav. 2009 Apr; 8(3):275-82. View abstract
  58. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May; 82(5):1171-7. View abstract
  59. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 01; 358(18):1899-908. View abstract
  60. Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia. Leukemia. 2007 May; 21(5):1108-9. View abstract
  61. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan; 39(1):70-4. View abstract
  62. Double-chambered right ventricle in an adult with Noonan syndrome. Cardiol Rev. 2006 Sep-Oct; 14(5):e16-20. View abstract
  63. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006 Aug 24; 355(8):788-98. View abstract
  64. The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy. . 2005 Jan 30; 132A(3):333-4. View abstract
  65. The PTPN11 gene and nonsyndromic isolated hypertrophic cardiomyopathy: no evidence of a causal link. Am J Med Genet. 2005; 132A(3). View abstract
  66. 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. . 2004 Oct 01; 130A(2):204-7. View abstract
  67. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. . 2004 Aug 01; 128A(4):352-63. View abstract
  68. 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. View abstract
  69. Knowledge of ethical standards in genetic testing among medical students, residents, and practicing physicians. JAMA. 2000 Nov 22-29; 284(20):2595-6. View abstract
  70. How Medical Students Can Bring About Curricular Change. Academic Medicine. 1998; 73(11):1173-6. View abstract