Assistant Professor of Pediatrics, Boston Children's Hospital

Medical Genetics

Roberts practices Medical Genetics. She researched medicine at Geisel School of Medicine at Dartmouth. Geisel School of Medicine at Dartmouth is ranked 37/29 in Research/PrimaryCare. Dr. Amy E. Roberts is a published MD. She published 11 publications, including: 'Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.'

Publications

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• Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
• Copy number variation plays an important role in clinical epilepsy.
• Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies.
• Cardiovascular disease in Noonan syndrome.
• Heart failure in congenital heart disease: a confluence of acquired and congenital.
• Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome.
• The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study.
• Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development.
• Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
• Genetic testing for dilated cardiomyopathy in clinical practice.

Schools

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• Dartmouth Medical School

• Umass Memorial Medical Center University Campus

• Boston Childrens HospitalGenetics Fellowship

Doctors Specialties

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• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Education

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• Boston Children's Hospital
• University of Massachusetts
• Geisel School of Medicine at Dartmouth

Hospital

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• Boston Children's Hospital

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