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Amy E. Roberts

M.D.

Director, Cardiovascular Genetics Research Program

Boston Children’s Hospital Associate Professor of Pediatrics

Harvard Medical School

Dr. Roberts’s early work focused on gene discovery for one of the Rasopathies, Noonan syndrome (NS), a multiple congenital anomaly disorder that is the second most common genetic cause of congenital heart disease in children after Trisomy 21. Over the last 14 years, there has been a rapid evolution in our understanding of the molecular genetic causes of Noonan syndrome, with nine genes now identified, explaining approximately 80% of cases. These discoveries have enabled the widespread use of next-generation sequencing testing by clinicians for earlier and more exact diagnosis. For more than 10 years Dr. Roberts has followed a cohort of over 200 individuals with NS for the purpose of genotype-phenotype analysis. She has also investigated the influence of these gene mutations on learning, memory and long-term outcomes. This work has informed anticipatory management guidelines published for clinicians caring for children and adults with this diagnosis.

 

Dr. Roberts is Director of the Cardiovascular Genetics Research Program. and is an Attending Physician in Genetics and Cardiology and sees patients at Boston Children’s Hospital.

Amy E. Roberts

M.D.

Director, Cardiovascular Genetics Research Program

Boston Children’s Hospital Associate Professor of Pediatrics

Harvard Medical School

Dr. Roberts’s early work focused on gene discovery for one of the Rasopathies, Noonan syndrome (NS), a multiple congenital anomaly disorder that is the second most common genetic cause of congenital heart disease in children after Trisomy 21. Over the last 14 years, there has been a rapid evolution in our understanding of the molecular genetic causes of Noonan syndrome, with nine genes now identified, explaining approximately 80% of cases. These discoveries have enabled the widespread use of next-generation sequencing testing by clinicians for earlier and more exact diagnosis. For more than 10 years Dr. Roberts has followed a cohort of over 200 individuals with NS for the purpose of genotype-phenotype analysis. She has also investigated the influence of these gene mutations on learning, memory and long-term outcomes. This work has informed anticipatory management guidelines published for clinicians caring for children and adults with this diagnosis.

 

Dr. Roberts is Director of the Cardiovascular Genetics Research Program. and is an Attending Physician in Genetics and Cardiology and sees patients at Boston Children’s Hospital.

Recent Publications

Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery

Published On 2025 Jul 10

Journal article

While exome and whole genome sequencing have transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we use artificial intelligence (AI) technologies to explore the predictive value of whole exome sequencing in forecasting clinical outcomes following surgery for congenital heart defects (CHD). We report results for a prospective observational cohort study of 2,253 CHD patients...


Consumption of ultra-processed foods by foreign-born adults rise with increased levels of acculturation in the United States

Published On 2025 May 30

Journal article

CONCLUSION: Our findings indicate that greater acculturation is associated with higher UPF consumption. Given the links between high UPF consumption and adverse health outcomes, targeted interventions that promote healthier dietary choices-while preserving culturally relevant eating habits-are essential to support the well-being of non-US born populations.