Amy Roberts

Publications

1. Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. iScience. 2025 Feb 21; 28(2):111707. View Abstract
2. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract
3. SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome. J Pediatr. 2024 Nov 26; 278:114422. View Abstract
4. Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. Neuroimage. 2024 Aug 15; 297:120721. View Abstract
5. 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 Abstract
6. 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 Abstract
7. 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 Abstract
8. Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. J Am Heart Assoc. 2024 Feb 06; 13(3):e031377. View Abstract
9. Association of genetic and sulcal traits with executive function in congenital heart disease. Ann Clin Transl Neurol. 2024 02; 11(2):278-290. View Abstract
10. Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication. Am J Med Genet A. 2024 02; 194(2):301-310. View Abstract
11. 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 Abstract
12. Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines. Circ Genom Precis Med. 2023 08; 16(4):350-358. View Abstract
13. Perspectives of Rare Disease Experts on Newborn Genome Sequencing. JAMA Netw Open. 2023 05 01; 6(5):e2312231. View Abstract
14. 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 Abstract
15. 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 Abstract
16. 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 Abstract
17. The Genetics of Neurodevelopment in Congenital Heart Disease. Can J Cardiol. 2023 02; 39(2):97-114. View Abstract
18. Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study. Genet Med. 2022 07; 24(7):1556-1566. View Abstract
19. 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 Abstract
20. Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management. Heart Fail Clin. 2022 Jan; 18(1):19-29. View Abstract
21. 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 Abstract
22. Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis. Children (Basel). 2021 Feb 10; 8(2). View Abstract
23. In Memoriam: Jaqueline A. Noonan. J Am Coll Cardiol. 2020 Sep 22; 76(12):1498-1500. View Abstract
24. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circ Genom Precis Med. 2020 08; 13(4):e002836. View Abstract
25. 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 Abstract
26. 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 Abstract
27. 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 Abstract
28. 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 Abstract
29. Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents. J Am Coll Cardiol. 2019 07 23; 74(3):346-358. View Abstract
30. Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue. Circulation. 2019 07 30; 140(5):390-404. View Abstract
31. 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 Abstract
32. 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 Abstract
33. 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 Abstract
34. 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 Abstract
35. 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 Abstract
36. The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One. 2018; 13(1):e0191319. View Abstract
37. Trisomy 13 and 18: Cardiac Surgery Makes Sense if It Is Part of a Comprehensive Care Strategy. Pediatrics. 2017 11; 140(5). View Abstract
38. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017 Nov; 49(11):1593-1601. View Abstract
39. 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 Abstract
40. 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 Abstract
41. Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. Congenit Heart Dis. 2017 Jul; 12(4):475-483. View Abstract
42. Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. J Pediatr. 2017 06; 185:248-248.e1. View Abstract
43. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet. 2016 Mar; 135(3):273-85. View Abstract
44. 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 Abstract
45. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015 Dec 04; 350(6265):1262-6. View Abstract
46. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat. 2015 Nov; 36(11):1080-7. View Abstract
47. Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol. 2015 Jul 01; 39(1):13-19. View Abstract
48. 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 Abstract
49. 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 Abstract
50. 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 Abstract
51. 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 Abstract
52. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2014 Oct; 134(4):e1149-62. View Abstract
53. 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 Abstract
54. 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 Abstract
55. 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 Abstract
56. Cardiovascular disease in Noonan syndrome. Arch Dis Child. 2014 Jul; 99(7):629-34. View Abstract
57. Heart failure in congenital heart disease: a confluence of acquired and congenital. Heart Fail Clin. 2014 Jan; 10(1):219-27. View Abstract
58. Learning and memory in children with Noonan syndrome. Am J Med Genet A. 2013 Sep; 161A(9):2250-7. View Abstract
59. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013 Jun 13; 498(7453):220-3. View Abstract
60. Noonan syndrome. Lancet. 2013 Jan 26; 381(9863):333-42. View Abstract
61. Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. Am J Med Genet A. 2012 Dec; 158A(12):3106-11. View Abstract
62. 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 Abstract
63. 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 Abstract
64. Correspondence regarding genetic assessment following increased nuchal translucency and normal karyotype. Prenat Diagn. 2012 Jun; 32(6):607-8; author reply 609-10. View Abstract
65. Nprl3 is required for normal development of the cardiovascular system. Mamm Genome. 2012 Aug; 23(7-8):404-15. View Abstract
66. 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 Abstract
67. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303. View Abstract
68. Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6. View Abstract
69. 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 Abstract
70. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct; 126(4):746-59. View Abstract
71. Dissecting spatio-temporal protein networks driving human heart development and related disorders. Mol Syst Biol. 2010 Jun 22; 6:381. View Abstract
72. The language phenotype of children and adolescents with Noonan syndrome. J Speech Lang Hear Res. 2010 Aug; 53(4):917-32. View Abstract
73. 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 Abstract
74. 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 Abstract
75. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010 Jan; 42(1):27-9. View Abstract
76. A suggested role for mitochondria in Noonan syndrome. Biochim Biophys Acta. 2010 Feb; 1802(2):275-83. View Abstract
77. Novel presentation of Omenn syndrome in association with aniridia. J Allergy Clin Immunol. 2009 Apr; 123(4):966-9. View Abstract
78. Genotype differences in cognitive functioning in Noonan syndrome. Genes Brain Behav. 2009 Apr; 8(3):275-82. View Abstract
79. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May; 82(5):1171-7. View Abstract
80. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 01; 358(18):1899-908. View Abstract
81. Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia. Leukemia. 2007 May; 21(5):1108-9. View Abstract
82. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan; 39(1):70-4. View Abstract
83. Double-chambered right ventricle in an adult with Noonan syndrome. Cardiol Rev. 2006 Sep-Oct; 14(5):e16-20. View Abstract
84. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006 Aug 24; 355(8):788-98. View Abstract
85. The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy. Am J Med Genet A. 2005 Jan 30; 132A(3):333-4. View Abstract
86. The PTPN11 gene and nonsyndromic isolated hypertrophic cardiomyopathy: no evidence of a causal link. Am J Med Genet. 2005; 132A(3). View Abstract
87. 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 Abstract
88. 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 Abstract
89. 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 Abstract
90. Knowledge of ethical standards in genetic testing among medical students, residents, and practicing physicians. JAMA. 2000 Nov 22-29; 284(20):2595-6. View Abstract
91. How Medical Students Can Bring About Curricular Change. Academic Medicine. 1998; 73(11):1173-6. View Abstract
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