Amy Roberts, MD
Co-Director, Cardiovascular Genetics Center; Director, Cardiovascular Genetics Research Program; Senior Associate Cardiologist, Department of Cardiology
Associate Professor of Pediatrics, Harvard Medical School
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Amy Roberts, MD
Co-Director, Cardiovascular Genetics Center; Director, Cardiovascular Genetics Research Program; Senior Associate Cardiologist, Department of Cardiology
Associate Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
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
Media
Caregiver Profile
Meet Dr. Amy Roberts
Certifications
American Board of Medical Genetics and Genomics (Clinical Genetics)
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.
Approach to 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.
Publications
Recessive genetic contribution to congenital heart disease in 5,424 probands. View Abstract
Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease. View Abstract
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome. View Abstract
Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. View Abstract
Meta-regression of sulcal patterns, clinical and environmental factors on neurodevelopmental outcomes in participants with multiple CHD types. View Abstract
The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease. View Abstract
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. View Abstract
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. View Abstract
Association of genetic and sulcal traits with executive function in congenital heart disease. View Abstract
Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication. View Abstract
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. View Abstract
Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines. View Abstract
Perspectives of Rare Disease Experts on Newborn Genome Sequencing. View Abstract
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. View Abstract
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. View Abstract
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype. View Abstract
The Genetics of Neurodevelopment in Congenital Heart Disease. View Abstract
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study. View Abstract
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. View Abstract
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management. View Abstract
Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot. View Abstract
Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis. View Abstract
In Memoriam: Jaqueline A. Noonan. View Abstract
De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. View Abstract
Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification. View Abstract
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. View Abstract
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. View Abstract
Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease. View Abstract
Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents. View Abstract
Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue. View Abstract
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. View Abstract
Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing. View Abstract
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. View Abstract
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. View Abstract
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. View Abstract
The Congenital Heart Disease Genetic Network Study: Cohort description. View Abstract
Trisomy 13 and 18: Cardiac Surgery Makes Sense if It Is Part of a Comprehensive Care Strategy. View Abstract
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. View Abstract
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. View Abstract
Genetic contribution to neurodevelopmental outcomes in congenital heart disease: are some patients predetermined to have developmental delay? View Abstract
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. View Abstract
Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. View Abstract
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. View Abstract
Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure. View Abstract
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. View Abstract
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. View Abstract
Cardiomyopathies in Noonan syndrome and the other RASopathies. View Abstract
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. View Abstract
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. View Abstract
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. View Abstract
Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings. View Abstract
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. View Abstract
Next-generation sequencing identifies rare variants associated with Noonan syndrome. View Abstract
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. View Abstract
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. View Abstract
Cardiovascular disease in Noonan syndrome. View Abstract
Heart failure in congenital heart disease: a confluence of acquired and congenital. View Abstract
Learning and memory in children with Noonan syndrome. View Abstract
De novo mutations in histone-modifying genes in congenital heart disease. View Abstract
Noonan syndrome. View Abstract
Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. View Abstract
The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study. View Abstract
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. View Abstract
Correspondence regarding genetic assessment following increased nuchal translucency and normal karyotype. View Abstract
Nprl3 is required for normal development of the cardiovascular system. View Abstract
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. View Abstract
Genetic testing for dilated cardiomyopathy in clinical practice. View Abstract
Chromosomal microarray testing influences medical management. View Abstract
Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. View Abstract
Noonan syndrome: clinical features, diagnosis, and management guidelines. View Abstract
Dissecting spatio-temporal protein networks driving human heart development and related disorders. View Abstract
The language phenotype of children and adolescents with Noonan syndrome. View Abstract
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. View Abstract
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. View Abstract
A restricted spectrum of NRAS mutations causes Noonan syndrome. View Abstract
A suggested role for mitochondria in Noonan syndrome. View Abstract
Novel presentation of Omenn syndrome in association with aniridia. View Abstract
Genotype differences in cognitive functioning in Noonan syndrome. View Abstract
TFAP2A mutations result in branchio-oculo-facial syndrome. View Abstract
Shared genetic causes of cardiac hypertrophy in children and adults. View Abstract
Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia. View Abstract
Germline gain-of-function mutations in SOS1 cause Noonan syndrome. View Abstract
Double-chambered right ventricle in an adult with Noonan syndrome. View Abstract
Aneurysm syndromes caused by mutations in the TGF-beta receptor. View Abstract
The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy. View Abstract
The PTPN11 gene and nonsyndromic isolated hypertrophic cardiomyopathy: no evidence of a causal link View Abstract
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. View Abstract
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. View Abstract
Availability of 11-cis retinal and opsins without chromophore as revealed by small bleaches of rhodopsin in excised albino mouse eyes. View Abstract
Knowledge of ethical standards in genetic testing among medical students, residents, and practicing physicians. View Abstract
How Medical Students Can Bring About Curricular Change View Abstract
Locations