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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

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

Published On 2025 Mar 24

Journal article

Congenital heart disease (CHD) is a leading cause of infant mortality. We analyzed de novo mutations (DNMs) and very rare transmitted/unphased damaging variants in 248 prespecified genes in 11,555 CHD probands. The results identified 60 genes with a significant burden of heterozygous damaging variants. Variants in these genes accounted for CHD in 10.1% of probands with similar contributions from de novo and transmitted variants in parent-offspring trios that showed incomplete penetrance. DNMs in...


Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease

Published On 2025 Mar 23

Journal article

Examining the altered arrangement and patterning of sulcal folds offers insights into the mechanisms of neurodevelopmental differences in psychiatric and neurological disorders. Previous sulcal pattern analysis used spectral graph matching of sulcal pit-based graph structures to assess deviations from normative sulcal patterns. However, challenges exist, including the absence of a standard criterion for defining a typical reference set, time-consuming cost of graph matching, user-defined feature...