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Author Details

Amy E Roberts
Boston Children's Hospital, Harvard Medical School
1998
91
41
PMIDPaper TitleJournal TitlePublished Year
36183910The Genetics of Neurodevelopment in Congenital Heart Disease.Can J Cardiol2023
36183910The Genetics of Neurodevelopment in Congenital Heart Disease.Can J Cardiol2023
37155167Perspectives of Rare Disease Experts on Newborn Genome Sequencing.JAMA Netw Open2023
37199218Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.Circ Genom Precis Med2023
36701153Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.JAMA Netw Open2023
36803080Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.Circ Genom Precis Med2023
37354892Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.Mol Genet Metab2023
37354892Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.Mol Genet Metab2023
37155167Perspectives of Rare Disease Experts on Newborn Genome Sequencing.JAMA Netw Open2023
37199218Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.Circ Genom Precis Med2023
36803080Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.Circ Genom Precis Med2023
36701153Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.JAMA Netw Open2023
34776080Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.Heart Fail Clin2022
35524774Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.Genet Med2022
36448195Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.Am J Med Genet C Semin Med Genet2022
35266292The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.Am J Med Genet A2022
34776080Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.Heart Fail Clin2022
35130025Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.Circ Genom Precis Med2022
35524774Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.Genet Med2022
36448195Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.Am J Med Genet C Semin Med Genet2022
35130025Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.Circ Genom Precis Med2022
35266292The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.Am J Med Genet A2022
34009260Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot.Cereb Cortex2021
34009260Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot.Cereb Cortex2021
33578785Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis.Children (Basel)2021
34461741Contribution of Noncanonical Splice Variants to <i>TTN</i> Truncating Variant Cardiomyopathy.Circ Genom Precis Med2021
33578785Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis.Children (Basel)2021
34461741Contribution of Noncanonical Splice Variants to <i>TTN</i> Truncating Variant Cardiomyopathy.Circ Genom Precis Med2021
31216004Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease.Cereb Cortex2020
32368696Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.JACC Basic Transl Sci2020
31898844Elucidation of de novo small insertion/deletion biology with parent-of-origin phasing.Hum Mutat2020
32480058Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.Am Heart J2020
32458740Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.J Am Heart Assoc2020
31216004Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease.Cereb Cortex2020
31898844Elucidation of de novo small insertion/deletion biology with parent-of-origin phasing.Hum Mutat2020
32458740Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.J Am Heart Assoc2020
32480058Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.Am Heart J2020
32368696Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.JACC Basic Transl Sci2020
30640061Generation 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.Stem Cell Res2019
29892087A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.Genet Med2019
30640061Generation 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.Stem Cell Res2019
30919684Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing.Circ Genom Precis Med2019
31163979Inducible 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.Circulation2019
31311300Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue.Circulation2019
31319917Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents.J Am Coll Cardiol2019
29892087A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.Genet Med2019
31319917Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents.J Am Coll Cardiol2019
31311300Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue.Circulation2019
30919684Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing.Circ Genom Precis Med2019
31163979Inducible 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.Circulation2019
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Collaborators

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Co-authored papers 18
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Co-authored papers 14
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Co-authored papers 13
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Co-authored papers 11
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Co-authored papers 10
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Co-authored papers 7
Boston Children's Hospital
Co-authored papers 7
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The Rockefeller University
Co-authored papers 6
Co-authored papers 5
Children's Hospital Boston, Harvard Medical School
Co-authored papers 5
Co-authored papers 5
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Co-authored papers 5
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Co-authored papers 5
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Co-authored papers 5
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Co-authored papers 4
The Broad Institute of MIT and Harvard
Co-authored papers 4
Co-authored papers 4
Hospital for Sick Children
Co-authored papers 4
Co-authored papers 4
Columbia University
Co-authored papers 4
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Cincinnati Children's Hospital Medical Center
Co-authored papers 3