Elizabeth Goldmuntz

Elizabeth Goldmuntz

UNVERIFIED PROFILE

Are you Elizabeth Goldmuntz?   Register this Author

Register author
Elizabeth Goldmuntz

Elizabeth Goldmuntz

Publications by authors named "Elizabeth Goldmuntz"

Are you Elizabeth Goldmuntz?   Register this Author

100Publications

2495Reads

15Profile Views

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.

Birth Defects Res 2019 Aug 20;111(13):888-905. Epub 2019 Jun 20.

Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdr2.1534DOI Listing
August 2019

Genetic variants of HIF1α are associated with right ventricular fibrotic load in repaired tetralogy of Fallot patients: a cardiovascular magnetic resonance study.

J Cardiovasc Magn Reson 2019 Aug 19;21(1):51. Epub 2019 Aug 19.

Division of Cardiology, Children's Hospital of Philadelphia, Abramson Research Center 702A, 3615 Civic Center Boulevard, Philadelphia, PA, 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12968-019-0555-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6699069PMC
August 2019

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects.

PLoS One 2019 17;14(7):e0219926. Epub 2019 Jul 17.

Department of Epidemiology, Human Genetics and Environmental Sciences and Human Genetics Center, UTHealth School of Public Health, Houston, Texas, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0219926PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636758PMC
July 2019

The association of elevated maternal genetic risk scores for hypertension, type 2 diabetes and obesity and having a child with a congenital heart defect.

PLoS One 2019 29;14(5):e0216477. Epub 2019 May 29.

Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0216477PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541344PMC
May 2019

Right Ventricular Contractile Reserve Is Impaired in Children and Adolescents With Repaired Tetralogy of Fallot: An Exercise Strain Imaging Study.

J Am Soc Echocardiogr 2019 Jan 27;32(1):135-144. Epub 2018 Sep 27.

Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.echo.2018.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321782PMC
January 2019

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Am J Hum Genet 2018 12 21;103(6):995-1008. Epub 2018 Nov 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, the Netherlands; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288205PMC
December 2018

Perioperative Factors Influence the Long-Term Outcomes of Children and Adolescents with Repaired Tetralogy of Fallot.

Pediatr Cardiol 2018 Oct 6;39(7):1433-1439. Epub 2018 Jun 6.

Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-018-1913-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281875PMC
October 2018

Diastolic dysfunction in tetralogy of Fallot: Comparison of echocardiography with catheterization.

Echocardiography 2018 10 13;35(10):1641-1648. Epub 2018 Aug 13.

Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/echo.14113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205242PMC
October 2018

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.

Am J Med Genet A 2018 10 1;176(10):2099-2103. Epub 2018 Oct 1.

Human Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.40495
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.40495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467273PMC
October 2018

Longitudinal Changes in Right Ventricular Function in Tetralogy of Fallot in the Initial Years after Surgical Repair.

J Am Soc Echocardiogr 2018 07 4;31(7):816-821. Epub 2018 Apr 4.

Division of Pediatric Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.echo.2018.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035101PMC
July 2018

22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.

Pediatr Cardiol 2018 Jun 8;39(5):906-910. Epub 2018 Mar 8.

Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, 34th and Civic Center Blvd, Suite 8NW35, Philadelphia, PA, 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-018-1840-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959773PMC
June 2018

Early postoperative remodelling following repair of tetralogy of Fallot utilising unsedated cardiac magnetic resonance: a pilot study.

Cardiol Young 2018 May 15;28(5):697-701. Epub 2018 Feb 15.

2Department of Pediatrics,Division of Pediatric Cardiology,The Children's Hospital of Philadelphia,Philadelphia,PA,USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S1047951118000045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912957PMC
May 2018

Quality of Life is Diminished in Patients with Tetralogy of Fallot with Mild Residual Disease: A Comparison of Tetralogy of Fallot and Isolated Valvar Pulmonary Stenosis.

Pediatr Cardiol 2017 Dec 31;38(8):1645-1653. Epub 2017 Aug 31.

Division of Cardiology, The Children's Hospital of Philadelphia, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-017-1709-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5690832PMC
December 2017

Exercise Performance and 22q11.2 Deletion Status Affect Quality of Life in Tetralogy of Fallot.

J Pediatr 2017 10 19;189:162-168. Epub 2017 Jul 19.

Division of Cardiology, Northwestern University Feinberg School of Medicine and Lurie Children's Hospital, Chicago, IL.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2017.06.049DOI Listing
October 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.).

View Article

Download full-text PDF

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

T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.

J Allergy Clin Immunol Pract 2018 Mar - Apr;6(2):690-691. Epub 2017 Sep 28.

Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, the Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pa.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2017.08.028DOI Listing
September 2017

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

Circ Cardiovasc Genet 2017 Jun;10(3):e001449

From the Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston (A.J.A., A.S., L.E.M.); Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (E.G.); and Division of Cardiology (E.G., H.H.), Center for Applied Genomics (H.H.), and Department of Biomedical and Health Informatics (D.T.), The Children's Hospital of Philadelphia, PA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.116.001449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5539991PMC
June 2017

Adult CHD: the ongoing need for physician counselling about heredity and contraceptive options.

Cardiol Young 2017 May 7;27(4):671-676. Epub 2016 Jul 7.

1Division of Pediatric Cardiology,The Children's Hospital of Philadelphia,Philadelphia,Pennsylvania,United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S1047951116001013DOI Listing
May 2017

The Impact of the Right Ventricular Outflow Tract Patch on Right Ventricular Strain in Tetralogy of Fallot: A Comparison with Valvar Pulmonary Stenosis Utilizing Cardiac Magnetic Resonance.

Pediatr Cardiol 2017 Mar 31;38(3):617-623. Epub 2017 Jan 31.

Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia PA. 3401 Civic Center Boulevard, Philadelphia, PA, 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-016-1558-5DOI Listing
March 2017

Longitudinal changes in adolescents with TOF: implications for care.

Eur Heart J Cardiovasc Imaging 2017 Mar;18(3):356-363

Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 34th and Civic Center Boulevard, 8th floor Philadelphia PA 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ehjci/jew272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837607PMC
March 2017

Rare copy number variants in patients with congenital conotruncal heart defects.

Birth Defects Res 2017 Mar 13;109(4):271-295. Epub 2017 Feb 13.

Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.23609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407323PMC
March 2017

Longitudinal Validation of the Diastolic to Systolic Time-Velocity Integral Ratio as a Doppler-Derived Measure of Pulmonary Regurgitation in Patients with Repaired Tetralogy of Fallot.

Pediatr Cardiol 2017 Feb 11;38(2):240-246. Epub 2016 Nov 11.

Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-016-1505-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5332275PMC
February 2017

Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit.

Am J Med Genet A 2016 12 8;170(12):3090-3097. Epub 2016 Sep 8.

Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37891DOI Listing
December 2016

Preconceptual Folic Acid Use and Recurrence Risk Counseling for Congenital Heart Disease.

Congenit Heart Dis 2015 May-Jun;10(3):219-25. Epub 2014 Jul 24.

Division of Pediatric Cardiology, Biostatistics and Data Management Core, Philadelphia, Pa, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/chd.12206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4762601PMC
April 2016

MESP1 Mutations in Patients with Congenital Heart Defects.

Hum Mutat 2016 Mar 19;37(3):308-14. Epub 2016 Jan 19.

Division of Cardiology, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, 19104.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4762608PMC
March 2016

Genome-wide association study of maternal and inherited loci for conotruncal heart defects.

PLoS One 2014 6;9(5):e96057. Epub 2014 May 6.

Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0096057PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4011736PMC
October 2015

Deficits in bone density and structure in children and young adults following Fontan palliation.

Bone 2015 Aug 14;77:12-6. Epub 2015 Apr 14.

Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, 415 Curie Boulevard, Philadelphia, PA 19104, USA; Division of Nephrology, Children's Hospital of Philadelphia, 34(th) and Civic Center Boulevard, Philadelphia, PA 19104, USA; Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, 415 Curie Boulevard, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2015.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4447577PMC
August 2015

The Cardiovascular Effects of Obesity on Ventricular Function and Mass in Patients after Tetralogy of Fallot Repair.

J Pediatr 2015 Aug 29;167(2):325-30.e1. Epub 2015 May 29.

Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia, The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA; Department of Radiology, The Children's Hospital of Philadelphia, The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2015.04.018DOI Listing
August 2015

The impact of pulmonary insufficiency on the right ventricle: a comparison of isolated valvar pulmonary stenosis and tetralogy of fallot.

Pediatr Cardiol 2015 Apr 18;36(4):796-801. Epub 2014 Dec 18.

Division of Cardiology, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-014-1087-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4368468PMC
April 2015

Procollagen type III amino-terminal propeptide: a serum biomarker of left ventricular remodelling in paediatric dilated cardiomyopathy.

Cardiol Young 2015 Feb 6;25(2):228-36. Epub 2013 Nov 6.

4Department of Pediatrics,Division of Cardiology,Children's Hospital of Philadelphia,Perelman School of Medicine,University of Pennsylvania,Philadelphia,United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S1047951113001820DOI Listing
February 2015

22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot.

Circ Cardiovasc Genet 2015 Feb 5;8(1):74-81. Epub 2015 Jan 5.

From the Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia (L.M.-R., S.M.P., M.A.F., J.R., E.G.), Department of Clinical Sciences, Temple Clinical Research Center, Temple University School of Medicine (H.Z.), Department of Biostatistics and Epidemiology (X.Z., J.S.), and Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics (W.Y.), Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA; and Division of Pediatric Cardiology, Department of Pediatrics, UCSF Benioff Children's Hospital, UCSF School of Medicine, San Francisco, CA (R.E.T.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.114.000819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383312PMC
February 2015

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

Am J Hum Genet 2015 Feb;96(2):235-44

Department of Genetics, Albert Einstein College of Medicine, Yeshiva University, Bronx, NY 10461, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.12.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320261PMC
February 2015

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.

Hum Mol Genet 2015 Jan 18;24(1):265-73. Epub 2014 Aug 18.

Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326325PMC
January 2015

Trends in pulmonary valve replacement in children and adults with tetralogy of fallot.

Am J Cardiol 2015 Jan 16;115(1):118-24. Epub 2014 Oct 16.

Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.amjcard.2014.09.054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262614PMC
January 2015

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.

Birth Defects Res A Clin Mol Teratol 2014 Dec 26;100(12):951-64. Epub 2014 Jul 26.

The Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.23279DOI Listing
December 2014

Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease.

Hum Mutat 2014 Dec 7;35(12):1459-68. Epub 2014 Nov 7.

Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247247PMC
December 2014

Lean mass deficits, vitamin D status and exercise capacity in children and young adults after Fontan palliation.

Heart 2014 Nov 27;100(21):1702-7. Epub 2014 Jun 27.

Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

View Article

Download full-text PDF

Source
http://heart.bmj.com/lookup/doi/10.1136/heartjnl-2014-305723
Publisher Site
http://dx.doi.org/10.1136/heartjnl-2014-305723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386691PMC
November 2014

22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch.

J Thorac Cardiovasc Surg 2014 Oct 10;148(4):1597-605. Epub 2014 Feb 10.

Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jtcvs.2014.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4127373PMC
October 2014

The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions.

Congenit Heart Dis 2014 Jan-Feb;9(1):83-6. Epub 2013 May 20.

The Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pa, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/chd.12097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575124PMC
September 2014

CANOES: detecting rare copy number variants from whole exome sequencing data.

Nucleic Acids Res 2014 Jul 25;42(12):e97. Epub 2014 Apr 25.

Departments of Systems Biology and Biomedical Informatics, Columbia University Medical Center, New York, NY 10032, USA JP Sulzberger Columbia Genome Center, Columbia University Medical Center, New York, NY 10032, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gku345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4081054PMC
July 2014

Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families.

Am J Med Genet A 2014 Jun 26;164A(6):1490-5. Epub 2014 Mar 26.

Division of Pediatric Cardiology, Department of Pediatrics, Perelman School of Medicine, The Children's Hospital of Philadelphia, The University of Pennsylvania, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571453PMC
June 2014

22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot.

Cardiol Young 2014 Apr 10;24(2):303-10. Epub 2013 Apr 10.

2 Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S1047951113000309DOI Listing
April 2014

Morbidity in children and adolescents after surgical correction of interrupted aortic arch.

Pediatr Cardiol 2014 Mar 15;35(3):386-92. Epub 2013 Sep 15.

Division of Cardiology, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, 34th St and Civic Center Blvd, Philadelphia, PA, 19104, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-013-0788-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943951PMC
March 2014

Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.

Am J Med Genet B Neuropsychiatr Genet 2014 Mar 22;165B(2):137-47. Epub 2013 Nov 22.

Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
https://www.med.upenn.edu/bbl/assets/user-content/documents/
Web Search
http://doi.wiley.com/10.1002/ajmg.b.32215
Publisher Site
http://dx.doi.org/10.1002/ajmg.b.32215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154196PMC
March 2014

Tricuspid annular plane systolic excursion in the assessment of right ventricular function in children and adolescents after repair of tetralogy of Fallot.

J Am Soc Echocardiogr 2013 Nov 6;26(11):1322-9. Epub 2013 Aug 6.

Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine, Philadelphia, Pennsylvania; Penn Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.echo.2013.06.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336673PMC
November 2013

22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot.

J Thorac Cardiovasc Surg 2013 Oct 11;146(4):868-73. Epub 2013 Jan 11.

Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jtcvs.2012.12.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706509PMC
October 2013

22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases.

Pediatr Cardiol 2013 Oct 21;34(7):1687-94. Epub 2013 Apr 21.

Division of Pediatric Cardiology, The Children's Hospital of Philadelphia, Department of Pediatrics at the Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-013-0694-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339067PMC
October 2013

Morbidity in children and adolescents after surgical correction of truncus arteriosus communis.

Am Heart J 2013 Sep 16;166(3):512-8. Epub 2013 Jul 16.

Division of Pediatric Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ahj.2013.05.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771390PMC
September 2013

Habitual exercise correlates with exercise performance in patients with conotruncal abnormalities.

Pediatr Cardiol 2013 Apr 27;34(4):853-60. Epub 2012 Oct 27.

Division of Pediatric Cardiology, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19147, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-012-0556-5DOI Listing
April 2013

The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.

Am J Med Genet A 2013 Apr 20;161A(4):792-802. Epub 2013 Feb 20.

Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3707401PMC
April 2013

Genetic testing in congenital heart disease: ethical considerations.

World J Pediatr Congenit Heart Surg 2013 Jan;4(1):53-7

Department of Pediatrics, Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/2150135112459523DOI Listing
January 2013

Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.

Am J Med Genet A 2012 Oct 10;158A(10):2499-505. Epub 2012 Sep 10.

Department of Pediatrics, Section of Pediatric Cardiology, The Children's Hospital of Colorado, Denver, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551981PMC
October 2012

Quantifying pulmonary regurgitation and right ventricular function in surgically repaired tetralogy of Fallot: a comparative analysis of echocardiography and magnetic resonance imaging.

Circ Cardiovasc Imaging 2012 Sep 6;5(5):637-43. Epub 2012 Aug 6.

Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, 34th and Civic Center Blvd, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCIMAGING.112.972588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476467PMC
September 2012

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Congenit Heart Dis 2011 Nov-Dec;6(6):592-602. Epub 2011 Oct 20.

Divisions of Cardiology Human Genetics Oncology Center for Applied Genomics Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1747-0803.2011.00582.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575121PMC
March 2012

Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: conotruncal and left-sided cardiac defects.

Birth Defects Res A Clin Mol Teratol 2011 Oct 24;91(10):879-84. Epub 2011 Aug 24.

Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.22849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3257803PMC
October 2011

Differential branch pulmonary artery regurgitant fraction is a function of differential pulmonary arterial anatomy and pulmonary vascular resistance.

JACC Cardiovasc Imaging 2011 May;4(5):506-13

University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S1936878X110014
Publisher Site
http://dx.doi.org/10.1016/j.jcmg.2011.02.011DOI Listing
May 2011

NAT1, NOS3, and TYMS genotypes and the risk of conotruncal cardiac defects.

Birth Defects Res A Clin Mol Teratol 2011 Jan 1;91(1):61-5. Epub 2010 Dec 1.

Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.20745DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404296PMC
January 2011

Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.

J Biomed Biotechnol 2010 12;2010:630940. Epub 2010 Jan 12.

Human Genetics Center, Division of Epidemiology and Disease Control, The University of Texas School of Public Health, 1200 Herman Pressler Drive, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2010/630940DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810479PMC
April 2010

Variants of folate metabolism genes and risk of left-sided cardiac defects.

Birth Defects Res A Clin Mol Teratol 2010 Jan;88(1):48-53

Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, Texas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.20622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860744PMC
January 2010

Aortic root dilation in patients with 22q11.2 deletion syndrome.

Am J Med Genet A 2009 May;149A(5):939-42

Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080309PMC
May 2009

Images in cardiovascular medicine. Partial anomalous left pulmonary artery.

Circulation 2009 May;119(17):2405-7

Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCULATIONAHA.108.835942DOI Listing
May 2009

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome.

Birth Defects Res A Clin Mol Teratol 2009 Feb;85(2):125-9

Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.20501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810963PMC
February 2009

Variants of folate metabolism genes and the risk of conotruncal cardiac defects.

Circ Cardiovasc Genet 2008 Dec 9;1(2):126-32. Epub 2008 Dec 9.

Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia, PA 19104-4318, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.108.796342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3035562PMC
December 2008

Late effects in survivors of tandem peripheral blood stem cell transplant for high-risk neuroblastoma.

Pediatr Blood Cancer 2008 Nov;51(5):679-83

Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.21683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2888471PMC
November 2008

The cardiovascular manifestations of Alagille syndrome and JAGI mutations.

Methods Mol Med 2006 ;126:217-31

The Division of Cardiology, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1385/1-59745-088-X:217DOI Listing
December 2006