Publications by authors named "Amy E Roberts"

64Publications

In Memoriam: Jaqueline A. Noonan.

J Am Coll Cardiol 2020 Sep 31;76(12):1498-1500. Epub 2020 Aug 31.

Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2020.08.018DOI Listing
September 2020

Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents.

J Am Coll Cardiol 2019 07;74(3):346-358

Inherited Cardiac Arrhythmia Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Department of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2019.05.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261020PMC
July 2019

Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue.

Circulation 2019 07 17;140(5):390-404. Epub 2019 Jul 17.

Disease Biophysics Group, Wyss Institute for Biologically Inspired Engineering, John A. Paulson School of Engineering and Applied Sciences (S.-J.P., K.Y.L., S.L.K., F.S.P., P.H.C., K.K.P.), Harvard University, Cambridge, MA.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.039711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6750809PMC
July 2019

Trisomy 13 and 18: Cardiac Surgery Makes Sense if It Is Part of a Comprehensive Care Strategy.

Pediatrics 2017 11;140(5)

Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1542/peds.2017-2809DOI Listing
November 2017

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

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Genetics (T.G., J.H.C., H.N., C.L.C., T.W., B.E.M.) and Department of Epidemiology and Population Health (T.W.), Albert Einstein College of Medicine, Bronx, NY; Center for Human Genetics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile (G.M.R.); Division of Human Genetics (D.M.M.M., E.E.M., E.Z., B.S.E.), Division of Cardiology (E.G.), and Department of Pediatrics (E.G.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Genetics, Wroclaw Medical University, Poland (A.B.); Clinical Genetics Research Program, Center for Addiction and Mental Health and Department of Psychiatry, University of Toronto (A.S.B., E.W.C.C.); Dalglish Family 22q Clinic, Department of Psychiatry and Toronto General Research Institute, University Health Network, Canada (A.S.B.); Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada (A.S.B.); Center for Human Genetics, University of Leuven (KU Leuven), Belgium (A.S., J.V., K.D.); The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel (D.G.); Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Israel (D.G., M.C., E.M.); Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel (M.C., E.M.); Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Switzerland (M.S., S.E.); Department of Genetic Medicine, UNIGE and iGE3 Institute of Genetics and Genomics of Geneva, University of Geneva Medical Center, Switzerland (S.E.A.); Marcus Autism Center, Children's Healthcare of Atlanta, GA (K.C.); Division of Pediatric Cardiovascular Surgery, Children's Hospital of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Surgery, Medical College of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy (M.C.D., B.D.); Department of Pediatrics, La Sapienza University of Rome, Italy (B.M.); Department of Medical Genetics, Aix Marseille University, APHM, GMGF, Timone Hospital, France (N.P., T.B.); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles (L.K.-W., C.E.B.); Department of Genetics, Polish Mother's Memorial Hospital, Research Institute, Łódź, Poland (M.P., W.H.); Department of Cardiology and Division of Genetics, Boston Children's Hospital, MA (A.E.R.); M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences (F.T.) and M.I.N.D. Institute and Department of Biochemistry and Molecular Medicine (T.J.S.), University of California, Davis; Department of Psychiatry and Psychology, University of Maastricht, The Netherlands (E.D.A.V.D., T.A.v.A.); Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY (T.A.v.A., W.R.K.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (H.R.J., D.J.C.); Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, GA (H.R.J.); and Human Genetics Center and Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A., L.E.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647121PMC
October 2017

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

aDepartments of Neurology bDepartments of Cardiology, Boston Children's Hospital cHarvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653279PMC
October 2017

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

Congenit Heart Dis 2017 Jul 18;12(4):475-483. Epub 2017 Jul 18.

Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1111/chd.12471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825182PMC
July 2017

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

J Pediatr 2017 06 28;185:248-248.e1. Epub 2017 Mar 28.

Division of General Pediatrics Boston Children's Hospital Harvard Medical School Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.jpeds.2017.02.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529256PMC
June 2017

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). Epub 2015 Dec 14.

Department of Cardiology, Boston Children's Hospital, Boston, MA (A.E.R., C.S., C.D.M., D.B., D.W., J.W.N.) Department of Pediatrics, Harvard Medical School, Boston, MA (A.E.R., D.W., J.W.N.).

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http://dx.doi.org/10.1161/JAHA.115.002302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845289PMC
December 2015

Cardiomyopathies in Noonan syndrome and the other RASopathies.

Prog Pediatr Cardiol 2015 Jul;39(1):13-19

Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1016/j.ppedcard.2015.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568836PMC
July 2015

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. Epub 2014 Dec 17.

Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

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http://dx.doi.org/10.1186/1471-2164-15-1127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378009PMC
December 2014

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

Dev Med Child Neurol 2015 Apr 3;57(4):385-92. Epub 2014 Nov 3.

Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.

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http://dx.doi.org/10.1111/dmcn.12621DOI Listing
April 2015

Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Proc Natl Acad Sci U S A 2014 Aug 21;111(31):11473-8. Epub 2014 Jul 21.

Department of Genetics, Harvard Medical School, Boston, MA 02115;Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115;

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http://dx.doi.org/10.1073/pnas.1324128111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4128129PMC
August 2014

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

Heart Fail Clin 2014 Jan;10(1):219-27

Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA; Department of Medicine, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S15517136130010
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http://dx.doi.org/10.1016/j.hfc.2013.09.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874878PMC
January 2014

Learning and memory in children with Noonan syndrome.

Am J Med Genet A 2013 Sep 5;161A(9):2250-7. Epub 2013 Aug 5.

Department of Cardiology, Boston Children's Hospital, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.36075DOI Listing
September 2013

Noonan syndrome.

Lancet 2013 Jan 10;381(9863):333-42. Epub 2013 Jan 10.

Department of Cardiology and Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S01406736126102
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http://dx.doi.org/10.1016/S0140-6736(12)61023-XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267483PMC
January 2013

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

Am J Med Genet A 2012 Dec 19;158A(12):3106-11. Epub 2012 Nov 19.

Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.35639DOI Listing
December 2012

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

Am J Med Genet A 2012 Nov 8;158A(11):2726-32. Epub 2012 Oct 8.

Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.35609DOI Listing
November 2012

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 23;158A(6):1411-3. Epub 2012 Apr 23.

Division of Newborn Medicine, Floating Hospital for Children at Tufts Medical Center, Boston, Massachusetts 02111, USA.

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http://dx.doi.org/10.1002/ajmg.a.35318DOI Listing
June 2012

Chromosomal microarray testing influences medical management.

Genet Med 2011 Sep;13(9):770-6

Division of Genetics, Children's Hospital Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31821dd54aDOI Listing
September 2011

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

Division of Genetics, Children's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.33845DOI Listing
February 2011

Noonan syndrome: clinical features, diagnosis, and management guidelines.

Pediatrics 2010 Oct 27;126(4):746-59. Epub 2010 Sep 27.

Department of Pediatrics, Munger Pavilion, Room 123, New York Medical College, Valhalla, NY 10595, USA.

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http://dx.doi.org/10.1542/peds.2009-3207DOI Listing
October 2010

The language phenotype of children and adolescents with Noonan syndrome.

J Speech Lang Hear Res 2010 Aug 11;53(4):917-32. Epub 2010 Jun 11.

Department of Psychology, University of Wisconsin-Madison, 1202 West Johnson Street, Madison, WI 53706, USA.

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http://dx.doi.org/10.1044/1092-4388(2009/09-0046)DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086511PMC
August 2010

A suggested role for mitochondria in Noonan syndrome.

Biochim Biophys Acta 2010 Feb 14;1802(2):275-83. Epub 2009 Oct 14.

Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 3214 Scott Hall, 540 E. Canfield, Detroit, MI 48201, USA.

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http://dx.doi.org/10.1016/j.bbadis.2009.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2878584PMC
February 2010

Shared genetic causes of cardiac hypertrophy in children and adults.

N Engl J Med 2008 May 9;358(18):1899-908. Epub 2008 Apr 9.

Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1056/NEJMoa075463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752150PMC
May 2008

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

Nat Genet 2007 Jan 3;39(1):70-4. Epub 2006 Dec 3.

Harvard Partners Center for Genetics and Genomics and Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/ng1926DOI Listing
January 2007

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

Cardiol Rev 2006 Sep-Oct;14(5):e16-20

Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1097/01.crd.0000194163.60428.c0DOI Listing
September 2006

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

Am J Med Genet A 2004 Aug;128A(4):352-63

Department of Medicine, Division of Genetics, Children's Hospital, Boston, Massachusetts 02115, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30142
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http://dx.doi.org/10.1002/ajmg.a.30142DOI Listing
August 2004

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

Department of Biological Sciences, Purdue University, Lilly Hall of Life Sciences, 915 W. State Street, West Lafayette, IN 47907-2054, USA.

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http://dx.doi.org/10.1016/j.visres.2003.09.013DOI Listing
December 2003