Amy Roberts

Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. iScience. 2025 Feb 21; 28(2):111707. View Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. Abstract

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. Abstract

SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome. J Pediatr. 2024 Nov 26; 278:114422. View SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome. Abstract

Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. Neuroimage. 2024 Aug 15; 297:120721. View Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. Abstract

Meta-regression of sulcal patterns, clinical and environmental factors on neurodevelopmental outcomes in participants with multiple CHD types. Cereb Cortex. 2024 06 04; 34(6). View Meta-regression of sulcal patterns, clinical and environmental factors on neurodevelopmental outcomes in participants with multiple CHD types. Abstract

The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease. J Cardiovasc Dev Dis. 2024 May 30; 11(6). View The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease. Abstract

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 04 04; 111(4):742-760. View De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Abstract

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. J Am Heart Assoc. 2024 Feb 06; 13(3):e031377. View Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. Abstract

Association of genetic and sulcal traits with executive function in congenital heart disease. Ann Clin Transl Neurol. 2024 02; 11(2):278-290. View Association of genetic and sulcal traits with executive function in congenital heart disease. Abstract

Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication. Am J Med Genet A. 2024 02; 194(2):301-310. View Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication. Abstract

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. Mol Genet Metab. 2023 07; 139(3):107626. View Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. Abstract

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines. Circ Genom Precis Med. 2023 08; 16(4):350-358. View Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines. Abstract

Perspectives of Rare Disease Experts on Newborn Genome Sequencing. JAMA Netw Open. 2023 05 01; 6(5):e2312231. View Perspectives of Rare Disease Experts on Newborn Genome Sequencing. Abstract

Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circ Genom Precis Med. 2023 04; 16(2):e003791. View Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Abstract

Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. JAMA Netw Open. 2023 01 03; 6(1):e2253191. View Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. Abstract

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype. Am J Med Genet C Semin Med Genet. 2022 12; 190(4):501-509. View Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype. Abstract

The Genetics of Neurodevelopment in Congenital Heart Disease. Can J Cardiol. 2023 02; 39(2):97-114. View The Genetics of Neurodevelopment in Congenital Heart Disease. Abstract

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study. Genet Med. 2022 07; 24(7):1556-1566. View Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study. Abstract

The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. Am J Med Genet A. 2022 06; 188(6):1915-1927. View The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. Abstract

Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management. Heart Fail Clin. 2022 Jan; 18(1):19-29. View Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management. Abstract

Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot. Cereb Cortex. 2021 08 26; 31(10):4670-4680. View Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot. Abstract

Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis. Children (Basel). 2021 Feb 10; 8(2). View Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis. Abstract

In Memoriam: Jaqueline A. Noonan. J Am Coll Cardiol. 2020 Sep 22; 76(12):1498-1500. View In Memoriam: Jaqueline A. Noonan. Abstract

De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circ Genom Precis Med. 2020 08; 13(4):e002836. View De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Abstract

Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification. J Am Heart Assoc. 2020 06 02; 9(11):e016195. View Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification. Abstract

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. Am Heart J. 2020 07; 225:108-119. View Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. Abstract

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. JACC Basic Transl Sci. 2020 Apr; 5(4):376-386. View Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. Abstract

Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease. Cereb Cortex. 2020 03 21; 30(2):476-487. View Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease. Abstract

Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents. J Am Coll Cardiol. 2019 07 23; 74(3):346-358. View Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents. Abstract

Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue. Circulation. 2019 07 30; 140(5):390-404. View Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue. Abstract

Inducible 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. Circulation. 2019 07 16; 140(3):207-224. View Inducible 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. Abstract

Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing. Circ Genom Precis Med. 2019 03; 12(3):e002463. View Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing. Abstract

Generation 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 Res. 2019 01; 34:101374. View Generation 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. Abstract

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018 12 06; 103(6):1054-1055. View Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Abstract

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018 11 01; 103(5):786-793. View Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Abstract

The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One. 2018; 13(1):e0191319. View The Congenital Heart Disease Genetic Network Study: Cohort description. Abstract

Trisomy 13 and 18: Cardiac Surgery Makes Sense if It Is Part of a Comprehensive Care Strategy. Pediatrics. 2017 11; 140(5). View Trisomy 13 and 18: Cardiac Surgery Makes Sense if It Is Part of a Comprehensive Care Strategy. Abstract

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017 Nov; 49(11):1593-1601. View Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Abstract

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circ Cardiovasc Genet. 2017 Oct; 10(5). View Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Abstract

Genetic contribution to neurodevelopmental outcomes in congenital heart disease: are some patients predetermined to have developmental delay? Curr Opin Pediatr. 2017 10; 29(5):529-533. View Genetic contribution to neurodevelopmental outcomes in congenital heart disease: are some patients predetermined to have developmental delay? Abstract

Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. Congenit Heart Dis. 2017 Jul; 12(4):475-483. View Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. Abstract

Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. J Pediatr. 2017 06; 185:248-248.e1. View Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. Abstract

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet. 2016 Mar; 135(3):273-85. View Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Abstract

Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure. J Am Heart Assoc. 2015 Dec 14; 4(12). View Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure. Abstract

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015 Dec 04; 350(6265):1262-6. View De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Abstract

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat. 2015 Nov; 36(11):1080-7. View Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Abstract

Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol. 2015 Jul 01; 39(1):13-19. View Cardiomyopathies in Noonan syndrome and the other RASopathies. Abstract

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. Am J Hum Genet. 2015 May 07; 96(5):753-64. View Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. Abstract

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet. 2015 Apr 15; 24(8):2375-89. View MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Abstract

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics. 2014 Dec 17; 15:1127. View Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. Abstract

Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings. Dev Med Child Neurol. 2015 Apr; 57(4):385-92. View Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings. Abstract

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2014 Oct; 134(4):e1149-62. View Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Abstract

Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 Aug 05; 111(31):11473-8. View Next-generation sequencing identifies rare variants associated with Noonan syndrome. Abstract

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. Nat Med. 2014 Jun; 20(6):616-23. View Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. Abstract

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Hum Mol Genet. 2014 Aug 15; 23(16):4315-27. View Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Abstract

Cardiovascular disease in Noonan syndrome. Arch Dis Child. 2014 Jul; 99(7):629-34. View Cardiovascular disease in Noonan syndrome. Abstract

Heart failure in congenital heart disease: a confluence of acquired and congenital. Heart Fail Clin. 2014 Jan; 10(1):219-27. View Heart failure in congenital heart disease: a confluence of acquired and congenital. Abstract

Learning and memory in children with Noonan syndrome. Am J Med Genet A. 2013 Sep; 161A(9):2250-7. View Learning and memory in children with Noonan syndrome. Abstract

De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013 Jun 13; 498(7453):220-3. View De novo mutations in histone-modifying genes in congenital heart disease. Abstract

Noonan syndrome. Lancet. 2013 Jan 26; 381(9863):333-42. View Noonan syndrome. Abstract

Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. Am J Med Genet A. 2012 Dec; 158A(12):3106-11. View Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. Abstract

The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A. 2012 Nov; 158A(11):2726-32. View The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study. Abstract

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci U S A. 2012 Aug 28; 109(35):14035-40. View Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Abstract

Correspondence regarding genetic assessment following increased nuchal translucency and normal karyotype. Prenat Diagn. 2012 Jun; 32(6):607-8; author reply 609-10. View Correspondence regarding genetic assessment following increased nuchal translucency and normal karyotype. Abstract

Nprl3 is required for normal development of the cardiovascular system. Mamm Genome. 2012 Aug; 23(7-8):404-15. View Nprl3 is required for normal development of the cardiovascular system. Abstract

Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. Am J Med Genet A. 2012 Jun; 158A(6):1411-3. View Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. Abstract

Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303. View Genetic testing for dilated cardiomyopathy in clinical practice. Abstract

Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6. View Chromosomal microarray testing influences medical management. Abstract

Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. Am J Med Genet A. 2011 Feb; 155A(2):367-71. View Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. Abstract

Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct; 126(4):746-59. View Noonan syndrome: clinical features, diagnosis, and management guidelines. Abstract

Dissecting spatio-temporal protein networks driving human heart development and related disorders. Mol Syst Biol. 2010 Jun 22; 6:381. View Dissecting spatio-temporal protein networks driving human heart development and related disorders. Abstract

The language phenotype of children and adolescents with Noonan syndrome. J Speech Lang Hear Res. 2010 Aug; 53(4):917-32. View The language phenotype of children and adolescents with Noonan syndrome. Abstract

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. Am J Med Genet A. 2010 Mar; 152A(3):591-600. View Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. Abstract

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A. 2010 Jan; 152A(1):4-24. View Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Abstract

A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010 Jan; 42(1):27-9. View A restricted spectrum of NRAS mutations causes Noonan syndrome. Abstract

A suggested role for mitochondria in Noonan syndrome. Biochim Biophys Acta. 2010 Feb; 1802(2):275-83. View A suggested role for mitochondria in Noonan syndrome. Abstract

Novel presentation of Omenn syndrome in association with aniridia. J Allergy Clin Immunol. 2009 Apr; 123(4):966-9. View Novel presentation of Omenn syndrome in association with aniridia. Abstract

Genotype differences in cognitive functioning in Noonan syndrome. Genes Brain Behav. 2009 Apr; 8(3):275-82. View Genotype differences in cognitive functioning in Noonan syndrome. Abstract

TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May; 82(5):1171-7. View TFAP2A mutations result in branchio-oculo-facial syndrome. Abstract

Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 01; 358(18):1899-908. View Shared genetic causes of cardiac hypertrophy in children and adults. Abstract

Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia. Leukemia. 2007 May; 21(5):1108-9. View Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia. Abstract

Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan; 39(1):70-4. View Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Abstract

Double-chambered right ventricle in an adult with Noonan syndrome. Cardiol Rev. 2006 Sep-Oct; 14(5):e16-20. View Double-chambered right ventricle in an adult with Noonan syndrome. Abstract

Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006 Aug 24; 355(8):788-98. View Aneurysm syndromes caused by mutations in the TGF-beta receptor. Abstract

The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy. Am J Med Genet A. 2005 Jan 30; 132A(3):333-4. View The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy. Abstract

The PTPN11 gene and nonsyndromic isolated hypertrophic cardiomyopathy: no evidence of a causal link. Am J Med Genet. 2005; 132A(3).

Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Am J Med Genet A. 2004 Oct 01; 130A(2):204-7. View Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Abstract

Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A. 2004 Aug 01; 128A(4):352-63. View Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Abstract

Availability of 11-cis retinal and opsins without chromophore as revealed by small bleaches of rhodopsin in excised albino mouse eyes. Vision Res. 2003 Dec; 43(28):3069-73. View Availability of 11-cis retinal and opsins without chromophore as revealed by small bleaches of rhodopsin in excised albino mouse eyes. Abstract

Knowledge of ethical standards in genetic testing among medical students, residents, and practicing physicians. JAMA. 2000 Nov 22-29; 284(20):2595-6. View Knowledge of ethical standards in genetic testing among medical students, residents, and practicing physicians. Abstract

How Medical Students Can Bring About Curricular Change. Academic Medicine. 1998; 73(11):1173-6.