A. Roberts

发表

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Yufeng Shen, Alessandro Giardini, Hongyu Zhao, 2017, Nature Genetics.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

De novo mutations in histone modifying genes in congenital heart disease

Murim Choi, Hongyu Zhao, Alexander E. Lopez, 2013, Nature.

Dissecting spatio-temporal protein networks driving human heart development and related disorders

Francisco S. Roque, S. Brunak, J. Seidman, 2010, Molecular systems biology.

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

Ayellet V. Segrè, M. Daly, J. Rosenfeld, 2012, Proceedings of the National Academy of Sciences.

Cardiovascular disease in Noonan syndrome

K. Gauvreau, R. Kucherlapati, A. Roberts, 2014, Archives of Disease in Childhood.

Nprl3 is required for normal development of the cardiovascular system

Monika S. Kowalczyk, C. Ponting, S. Bhattacharya, 2012, Mammalian Genome.

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

Alcino J. Silva, G. Nolan, A. Balmain, 2010, American journal of medical genetics. Part A.

Towards a Treatment for RAS-MAPK Pathway Disorders

R. Kucherlapati, A. Roberts, V. Joshi, 2008 .

Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies

Gang Wang, Ronald J A Wanders, Kevin Kit Parker, 2014 .

Chromosomal microarray testing influences medical management

Michael E. Coulter, David T. Miller, D. Harris, 2011, Genetics in Medicine.

How to effectively utilize genetic testing in the care of children with cardiomyopathies

W. Chung, J. Towbin, M. Russell, 2015 .

Shared genetic causes of cardiac hypertrophy in children and adults.

Heidi L Rehm, Raju Kucherlapati, Hiroyuki Morita, 2008, The New England journal of medicine.

Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.

M. Digilio, B. Gelb, M. Tartaglia, 2021, Heart failure clinics.

Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification

A. Roberts, H. Zouk, L. Witkowski, 2020, Journal of the American Heart Association.

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

J. Allanson, B. Gelb, A. Roberts, 2010, Pediatrics.

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

M. Loh, A. Carè, H. Cavé, 2014, Human molecular genetics.

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

E. I. Pierpont, A. Roberts, G. Neri, 2014, Pediatrics.

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

Robert W. Mills, A J Agopian, Jonathan H. Chung, 2017, Circulation. Cardiovascular genetics.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

Craig C. Benson, W. Chung, J. Seidman, 2016 .

Learning and memory in children with Noonan syndrome

E. I. Pierpont, A. Roberts, E. Tworog-Dube, 2013, American journal of medical genetics. Part A.

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

Li Li, R. Kucherlapati, K. Montgomery, 2007, Nature Genetics.

NOONAN SYNDROME

J. Allanson, A. Roberts, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

Noonan Syndrome and Other RAS/MAPK Pathway Syndromes

B. Gelb, M. Tartaglia, A. Roberts, 2015 .

Cardiomyopathies in Noonan syndrome and the other RASopathies.

B. Gelb, M. Tartaglia, A. Roberts, 2015, Progress in pediatric cardiology.

Correspondence regarding genetic assessment following increased nuchal translucency and normal karyotype

A. Roberts, V. Joshi, L. Briere, 2012, Prenatal diagnosis.

R. Kucherlapati, B. Neel, A. Roberts, 2010, Biochimica et biophysica acta.

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome

Mark S. Seidenberg, E. I. Pierpont, A. Roberts, 2010, American journal of medical genetics. Part A.

Genetic contribution to neurodevelopmental outcomes in congenital heart disease: are some patients predetermined to have developmental delay?

J. Newburger, A. Roberts, C. Rollins, 2017, Current opinion in pediatrics.

The Congenital Heart Disease Genetic Network Study Rationale, Design, and Early Results

W. Chung, L. Sleeper, B. Gelb, 2013 .

Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease.

J. Seidman, P. Grant, D. Wypij, 2019, Cerebral cortex.

The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach

Alcino J. Silva, B. Korf, C. Lázaro, 2015, American journal of medical genetics. Part A.

The Congenital Heart Disease Genetic Network Study: Cohort description

Thanh T. Hoang, W. Chung, R. Lifton, 2018, PloS one.

Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing

Vassilios J. Bezzerides, A. Roberts, K. Christensen, 2019, Circulation. Genomic and precision medicine.

iPSC-Derived Cardiomyocytes Reveal Aberrant ERK5 and MEK1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome.

Clint L. Miller, A. Roberts, T. Evans, 2019, Circulation.

Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents.

Vassilios J. Bezzerides, A. Roberts, C. Macrae, 2019, Journal of the American College of Cardiology.

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

B. Byrne, A. Roberts, Judith Geva, 2012, American journal of medical genetics. Part A.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

The genetics of neurodevelopment in congenital heart disease.

S. Morton, A. Roberts, Eli Patt, 2022, The Canadian journal of cardiology.

Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.

K. Jenkins, A. Roberts, J. Leopold, 2017, Congenital heart disease.

Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing

Allison H Seiden, H. Shah, R. Sebra, 2020, Human mutation.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.

Genetic testing for dilated cardiomyopathy in clinical practice.

Nicole M. Johnson, W. Chung, J. Seidman, 2012, Journal of cardiac failure.

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

W. Chung, J. Priest, W. Pu, 2018, Circulation.

Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant

B. Shephard, A. Roberts, L. Demmer, 2012, American journal of medical genetics. Part A.

The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy

J. Seidman, R. Kucherlapati, H. Rehm, 2005, American journal of medical genetics. Part A.

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

B. Korf, E. I. Pierpont, B. Gelb, 2022, American journal of medical genetics. Part A.

Double-chambered right ventricle in an adult with Noonan syndrome.

A. Roberts, J. Aragam, Jae Bum Kim, 2006, Cardiology in review.

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

George H. Thomas, Julie De Backer, Paul Coucke, 2006 .

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

P. Byers, D. Milewicz, H. Dietz, 2006, The New England journal of medicine.

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

E. I. Pierpont, M. Tartaglia, A. Roberts, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Next-generation sequencing identifies rare variants associated with Noonan syndrome

John D McPherson, Richard A Gibbs, Lincoln D. Stein, 2014, Proceedings of the National Academy of Sciences.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Stephan J Sanders, M. Daly, W. Chung, 2015, Science.

De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease

Michael F Swartz, K. B. Manheimer, W. Chung, 2020, Circulation. Genomic and precision medicine.

Genetic Basis of Congenital Heart Disease

S. Morton, A. Roberts, 2015 .

Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature

V. Kimonis, A. Roberts, A. Lamb, 2004, American journal of medical genetics. Part A.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Stephan Eliez, Tingwei Guo, Xiaowu Gai, 2015, American journal of human genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC 2 A 3 and Congenital Heart Defects in the 22 q 11 . 2 Deletion Syndrome

E. Zackai, T. Shaikh, K. Coleman, 2022 .

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan‐like syndromes featuring aortopathy

J. Stoler, A. Rope, P. Bayrak-Toydemir, 2015, American journal of medical genetics. Part A.

Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome

R. Kucherlapati, A. Roberts, P. Smpokou, 2012, American journal of medical genetics. Part A.

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.

J. Seidman, R. Kucherlapati, B. Neel, 2010, The Journal of clinical investigation.

The language phenotype of children and adolescents with Noonan syndrome.

Mark S. Seidenberg, E. I. Pierpont, S. Ellis Weismer, 2010, Journal of speech, language, and hearing research : JSLHR.

Genotype differences in cognitive functioning in Noonan syndrome

Mark S. Seidenberg, E. I. Pierpont, A. Roberts, 2009, Genes, brain, and behavior.

Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia

M. Loh, F. Locatelli, O. Haas, 2007, Leukemia.

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Yiping Shen, David T. Miller, J. Stoler, 2014, BMC Genomics.

A restricted spectrum of NRAS mutations causes Noonan syndrome

D. Horn, S. Mundlos, R. Kucherlapati, 2010, Nature Genetics.

Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy

Parth N. Patel, J. Seidman, S. Cook, 2021, Circulation. Genomic and precision medicine.

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

Jacob T. Munro, Angharad M Roberts, J. Seidman, 2018, Genetics in Medicine.

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

Ronald Berezney, Kasper Lage, Raymond M. Anchan, 2015, Human molecular genetics.

MATR 3 disruption in human and mouse associated with bicuspid aortic valve , aortic coarctation and patent ductus arteriosus

K. Lage, J. Gusella, C. Morton, 2015 .

Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure

D. Wypij, J. Newburger, M. Rivkin, 2015, Journal of the American Heart Association.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, W. Chung, B. Gener, 2018, American journal of human genetics.

Potocki–Lupski syndrome: An inherited dup(17)(p11.2p11.2) with hypoplastic left heart

A. Ligon, A. Roberts, R. Lacro, 2011, American journal of medical genetics. Part A.

The sixth international RASopathies symposium: Precision medicine—From promise to practice

G. Rumbaugh, K. Walsh, N. Rosen, 2019, American journal of medical genetics. Part A.

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

M. Listewnik, J. Mulliken, C. Morton, 2004, American Journal of Medical Genetics. Part A.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Trevor J Pugh, L. Pennacchio, J. Priest, 2015, Human mutation.

Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis

K. Gauvreau, David T. Miller, K. Jenkins, 2021, Children.

Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

J. Clayton-Smith, S. Douzgou, A. Roberts, 2020, European journal of medical genetics.

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.

E. I. Pierpont, A. Roberts, M. Zenker, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Novel presentation of Omenn syndrome in association with aniridia.

David T. Miller, L. Notarangelo, S. Giliani, 2008, The Journal of allergy and clinical immunology.

Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome.

A. Roberts, M. Wojcik, B. Harper, 2017, The Journal of pediatrics.

TFAP2A mutations result in branchio-oculo-facial syndrome.

Geping Zhao, J. Mulliken, J. Milunsky, 2008, American journal of human genetics.

Noonan syndrome

J. Allanson, B. Gelb, M. Tartaglia, 2013, The Lancet.

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

H. Mefford, I. Thiffault, T. Pastinen, 2021, Genetics in Medicine.

Heart failure in congenital heart disease: a confluence of acquired and congenital.

S. Mital, A. Roberts, A. Fahed, 2014, Heart failure clinics.

Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy.

A. Roberts, R. Quinlivan, C. Sewry, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Insights into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia from Engineered Human Heart Tissue.

Vassilios J. Bezzerides, W. Pu, A. Kleber, 2019, Circulation.

Nprl3 is required for normal development of the cardiovascular system

Monika S. Kowalczyk, C. Ponting, S. Bhattacharya, 2012, Mammalian Genome.

iPSC-Derived Cardiomyocytes Reveal Aberrant ERK5 and MEK1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome.

A. Roberts, T. Evans, C. Miller, 2019, Circulation.

Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings

E. I. Pierpont, A. Roberts, E. Tworog‐Dube, 2015, Developmental medicine and child neurology.

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

Nicolas F. Fernandez, W. Chung, D. Srivastava, 2020, JACC. Basic to translational science.

Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study

V. Jobanputra, Yufeng Shen, J. Newburger, 2023, Circulation. Genomic and precision medicine.

De novo mutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects

Stephan J Sanders, M. Daly, W. Chung, 2016 .

Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot.

P. Grant, D. Wypij, K. Im, 2021, Cerebral cortex.

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Michael A. Burke, N. Brown, P. Lockhart, 2020, American heart journal.

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

Karlyne M. Reilly, K. Walsh, B. Korf, 2016, American journal of medical genetics. Part A.

Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity

W. Chung, J. Seidman, Yufeng Shen, 2022, Circulation. Genomic and precision medicine.

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

Jacob T. Munro, J. Seidman, S. Cook, 2018, Genetics in Medicine.

Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease

A. Dale, A. Panigrahy, D. Hagler, 2023, JAMA network open.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, W. Chung, B. Gener, 2018, American journal of human genetics.

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines

S. Colan, B. Gelb, M. Tartaglia, 2023, Circulation. Genomic and precision medicine.

The cardiofaciocutaneous syndrome

J. Opitz, J. Allanson, A. Roberts, 2006, Journal of Medical Genetics.