Share

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


Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis

Published On 2025 Sep 04

Journal article

CONCLUSIONS: These findings highlight the utility of WGS in identifying clinically relevant SNVs in CHD and suggest that WGS should be considered in the diagnostic workup of CHD, particularly in syndromic cases, to guide personalized management and multidisciplinary care.