Dr. Amy Roberts, MD

• Pediatric Cardiology

*Healthgrades does not verify qualifications for medical specialties. Please verify your provider's specialty and qualifications directly with your provider and applicable medical board.

• Boston Childrens Hospital - Genetics Fellowship

  Fellowship Hospital

• Harvard Medical School Genetics Training Program

  Fellowship Hospital, 2004

• University Of Massachusetts Medical Center

  Residency Hospital, 2001

• University Of Massachusetts Medical Center

  Internship Hospital, 1999

• Dartmouth University Geisel School Of Medicine

  Medical School, 1998

• Swarthmore College

  Undergraduate School, 1994

• Perspectives of Rare Disease Experts on Newborn Genome Sequencing Perspectives of Rare Disease Experts on Newborn Genome Sequencing, 2023-05-08

• iPSC-derived cardiomyocytes reveal aberrant ERK5 and MEK1/2 signaling concomitantly promote hypertrophic cardiomyopathy inRAF1-associated Noonan Syndrome, 2019-06-05

• Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies, 2014-05-11

• Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype, 2022-11-29

• A restricted spectrum ofNRASmutations causes Noonan syndrome, 2009-12-06

• Insights into the pathogenesis of catecholaminergic polymorphic ventricular tachycardia from engineered human heart tissue, 2019-07-17

• Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome, 2016-01-07

• Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield, 2014-12-17

• Genome-wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in theGPR98locus on 5q14.3, 2017-08-14

• Genetic Testing for Dilated Cardiomyopathy in Clinical Practice, 2012-02-15

• Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis, 2021-02-10

• Congenital Chylothorax As The Initial Presentation OfPTPN11-Associated Noonan Syndrome, 2017-03-28

• Noonan syndrome, 2013-01-10

• De novoDamaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease, 2020-06-30

• The Congenital Heart Disease Genetic Network Study: Cohort description, 2018-01-19

• Contribution of rare inherited andde novovariants in 2,871 congenital heart disease probands, 2017-10-09

• De novomutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects, 2015-12-04

• 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 thePTPN11gene, 2018-12-26

• Cardiomyopathies in Noonan syndrome and the other RASopathies, 2015-01-31

• Hypertrophic Cardiomyopathy in RASopathies Diagnosis, Clinical Characteristics, Prognostic Implications, and Management, 2021-10-25

• Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents, 2019-07-23

• Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease Potentially Damaging Gene Variants and Neurologic Outcomes in Congenital Heart Disease, 2023-01-26

• Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome, 2015-08-03

• Novel Presentation of Omenn Syndrome in Association with Aniridia, 2009-04-22

• Heart Failure in Congenital Heart Disease: A confluence of acquired and congenital, 2013-12-03

• Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back, 2012-07-17

• A SUGGESTED ROLE FOR MITOCHONDRIA IN NOONAN SYNDROME, 2009-10-14

• Pulmonary Vein Stenosis in Patients with Smith-Lemli-Opitz Syndrome, 2017-07-18

• Genotype differences in cognitive functioning in Noonan syndrome, 2008-12-11

• Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome, 2011-03-30

• The Language Phenotype of Children and Adolescents With Noonan Syndrome, 2010-06-11

• The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery, 2022-03-09

• The Seventh International RASopathies Symposium: Pathways to a Cure - Expanding Knowledge, Enhancing Research, and Therapeutic Discovery, 2022-03-09