Stephanie M Ware

Stephanie M Ware

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Stephanie M Ware

Publications by authors named "Stephanie M Ware"

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Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk.

Cardiol Young 2020 Jan 27:1-8. Epub 2020 Jan 27.

Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.

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http://dx.doi.org/10.1017/S1047951119002646DOI Listing
January 2020

An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease.

Eur J Med Genet 2019 Oct 22:103797. Epub 2019 Oct 22.

Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA; Department of Epidemiology, Indiana University Fairbanks School of Public Health, Indianapolis, IN, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103797DOI Listing
October 2019

The impact of cardiovascular genetic counseling on patient empowerment.

J Genet Couns 2019 Jun 24;28(3):570-577. Epub 2019 Jan 24.

Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.

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http://dx.doi.org/10.1002/jgc4.1050DOI Listing
June 2019

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.

J Clin Invest 2019 05 16;129(7):2841-2855. Epub 2019 May 16.

Department of Experimental and Clinical Pharmacology and Pharmacogenomics, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1172/JCI98890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6597216PMC
May 2019

Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.

Hum Mutat 2018 12 22;39(12):2083-2096. Epub 2018 Oct 22.

Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

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http://dx.doi.org/10.1002/humu.23661DOI Listing
December 2018

Cardiomyopathy in Children: Identifying the Causes.

Authors:
Stephanie M Ware

J Am Coll Cardiol 2018 11;72(19):2339-2341

Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2018.09.009DOI Listing
November 2018

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 09 14;20(9):899-909. Epub 2018 Jun 14.

Departments of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

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http://dx.doi.org/10.1038/s41436-018-0039-zDOI Listing
September 2018

ZIC3 in Heterotaxy.

Adv Exp Med Biol 2018 ;1046:301-327

Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.

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http://dx.doi.org/10.1007/978-981-10-7311-3_15DOI Listing
July 2018

The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services.

J Genet Couns 2018 06 27;27(3):558-564. Epub 2017 Oct 27.

Department of Pediatrics, Division of Cardiology, Indiana University School of Medicine, Riley Hospital for Children & Indiana University Health, 705 Riley Hospital Dr., Indianapolis, IN, 46202, USA.

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http://dx.doi.org/10.1007/s10897-017-0169-5DOI Listing
June 2018

Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.

J Card Fail 2018 May 19;24(5):281-302. Epub 2018 Mar 19.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.

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https://linkinghub.elsevier.com/retrieve/pii/S10719164183010
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http://dx.doi.org/10.1016/j.cardfail.2018.03.004DOI Listing
May 2018

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.

Mol Cytogenet 2018 27;11:23. Epub 2018 Mar 27.

1Department of Medical and Molecular Genetics and Department of Pediatrics, Indiana University School of Medicine, 550 N. University Blvd, AOC 5001, Indianapolis, Indiana 46202 USA.

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http://dx.doi.org/10.1186/s13039-018-0372-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870180PMC
March 2018

Genetic Testing in Pediatric Left Ventricular Noncompaction.

Circ Cardiovasc Genet 2017 Dec;10(6)

From the Division of Cardiology (E.M.M., R.B.H., R.C., A.L., A.P., A.R.S.) and Division of Biostatistics and Epidemiology (R.F.I.), Cincinnati Children's Hospital Medical Center, OH; and Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis (S.M.W.).

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http://dx.doi.org/10.1161/CIRCGENETICS.117.001735DOI Listing
December 2017

Genotype-phenotype correlations in Marfan syndrome.

Heart 2017 11 8;103(22):1750-1752. Epub 2017 Jun 8.

Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Ringgold Standard Institution, Indianapolis, Indiana, USA.

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http://dx.doi.org/10.1136/heartjnl-2017-311513DOI Listing
November 2017

Genetics of paediatric cardiomyopathies.

Authors:
Stephanie M Ware

Curr Opin Pediatr 2017 10;29(5):534-540

Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

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http://Insights.ovid.com/crossref?an=00008480-201710000-0000
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http://dx.doi.org/10.1097/MOP.0000000000000533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777578PMC
October 2017

Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers.

Circ Cardiovasc Genet 2017 10;10(5)

From the Center for Cardiovascular Research (K.L.M.) and Department of Pediatrics, College of Medicine (K.L.M.), Nationwide Children's Hospital, Ohio State University, Columbus; and Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis (S.M.W.).

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http://dx.doi.org/10.1161/CIRCGENETICS.117.001891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659730PMC
October 2017

Pediatric Cardiomyopathies.

Circ Res 2017 Sep;121(7):855-873

From the Department of Pediatrics, Columbia University Medical Center, New York, NY (T.M.L., W.K.C., L.J.A.); Department of Pediatrics, Albert Einstein College of Medicine, The Children's Hospital at Montefiore, Bronx, NY (D.T.H., J.M.L.); Department of Pediatrics, Stollery Children's Hospital, University of Alberta, Edmonton, Canada (P.K.); Department of Pediatrics, The Heart Institute, Le Bonheur Children's Hospital, Memphis, TN (J.A.T.); Indiana University School of Medicine, Indianapolis (S.M.W.); Department of Cardiology, Boston Children's Hospital, MA (S.D.C.); Department of Pediatrics, Cincinnati Children's Hospital Medical Center, OH (J.L.J., E.M.M.); Department of Pediatrics, Children's Hospital of Philadelphia, PA (J.W.R.); Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (C.D.C.); Department of Pediatrics, Primary Children's Hospital, Salt Lake City, UT (A.K.L.); Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago, IL (P.T.T.); and Department of Pediatrics, Wayne State University School of Medicine and Children's Hospital of Michigan, Detroit (J.D.C., H.R., A.H., S.E.L.).

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http://dx.doi.org/10.1161/CIRCRESAHA.116.309386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657298PMC
September 2017

Noncompaction cardiomyopathy and heterotaxy syndrome.

Prog Pediatr Cardiol 2017 Sep 10;46:23-27. Epub 2017 Jul 10.

Department of Pediatrics, Division of Pediatric Cardiology, Indiana University School of Medicine, Riley Hospital for Children at Indiana University Health, 705 Riley Hospital Drive, Riley Research 127, Indianapolis, IN 46202, United States.

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http://dx.doi.org/10.1016/j.ppedcard.2017.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808997PMC
September 2017

Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.

J Cardiovasc Transl Res 2017 Aug 26;10(4):423-432. Epub 2017 May 26.

Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati Children's Research Foundation, 3333 Burnet Ave, MLC 2003, Cincinnati, OH, 45229, USA.

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http://dx.doi.org/10.1007/s12265-017-9753-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702585PMC
August 2017

Septal contributions to olfactory bulb interneuron diversity in the embryonic mouse telencephalon: role of the homeobox gene Gsx2.

Neural Dev 2017 Aug 16;12(1):13. Epub 2017 Aug 16.

Divisions of Developmental Biology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, 45229, USA.

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http://neuraldevelopment.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/s13064-017-0090-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559835PMC
August 2017

High burden of genetic conditions diagnosed in a cardiac neurodevelopmental clinic.

Cardiol Young 2017 Apr 19;27(3):459-466. Epub 2016 Sep 19.

7Division of Cardiology,Lurie Children's Hospital,Chicago,Illinois,United States of America.

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http://dx.doi.org/10.1017/S104795111600072XDOI Listing
April 2017

Heart Failure in Pediatric Patients With Congenital Heart Disease.

Circ Res 2017 Mar;120(6):978-994

From the Department of Pediatrics and Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.

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http://dx.doi.org/10.1161/CIRCRESAHA.116.308996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391045PMC
March 2017

Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group.

Circ Heart Fail 2017 Feb;10(2)

From the Department of Pediatrics, Miller School of Medicine, University of Miami, FL (P.R., S.E.L.); Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit (J.D.W., S.E.L.); Sanofi Genzyme Corporation, Boston, MA (G.F.C.); The Heart Institute, Le Bonheur Children's Hospital, Memphis, TN (J.A.T.); The Heart Institute, Cincinnati Children's Hospital Medical Center, OH (J.L.J.); Department of Cardiology, Boston Children's Hospital, MA (L.A.S., M.L., S.D.C.); Department of Pediatrics, Vanderbilt University School of Medicine, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN (S.A.W.); Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (C.E.C.); Indiana University School of Medicine, Indianapolis (S.M.W.); Department of Pediatrics, Albert Einstein College of Medicine, The Children's Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Pediatrics, Columbia University Medical Center, New York, NY (W.K.C.); and University of North Carolina at Chapel Hill (C.C.).

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http://dx.doi.org/10.1161/CIRCHEARTFAILURE.115.002637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516533PMC
February 2017

Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics.

Sci Rep 2017 01 18;7:39276. Epub 2017 Jan 18.

Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, U.S.A.

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http://dx.doi.org/10.1038/srep39276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241776PMC
January 2017

Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling.

J Genet Couns 2016 12 22;25(6):1171-1178. Epub 2016 Aug 22.

Department of Medical & Molecular Genetics, Riley Hospital for Children at IU Health, Indiana University School of Medicine, 975 West Walnut Street, IB-130, Indianapolis, IN, 46202, USA.

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http://dx.doi.org/10.1007/s10897-016-0002-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141520PMC
December 2016

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

Philos Trans R Soc Lond B Biol Sci 2016 12;371(1710)

Department of Pediatrics and Medical and Molecular Genetics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA

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http://dx.doi.org/10.1098/rstb.2015.0406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5104505PMC
December 2016

The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges.

Front Cardiovasc Med 2016 25;3:22. Epub 2016 Jul 25.

Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.

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http://dx.doi.org/10.3389/fcvm.2016.00022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4959014PMC
August 2016

Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.

Am J Med Genet A 2016 07 26;170(7):1786-90. Epub 2016 Apr 26.

Indiana University School of Medicine, Indianapolis, Indiana.

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http://dx.doi.org/10.1002/ajmg.a.37668DOI Listing
July 2016

Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.

Am J Med Genet A 2016 May 7;170A(5):1288-94. Epub 2016 Feb 7.

Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.37568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125072PMC
May 2016

Genetic testing and genetic counseling in patients with sudden death risk due to heritable arrhythmias.

Heart Rhythm 2016 Mar 12;13(3):789-97. Epub 2015 Nov 12.

Department of Pediatrics and Medical and Molecular Genetics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2015.11.013DOI Listing
March 2016

Genetic and Developmental Basis of Cardiovascular Malformations.

Clin Perinatol 2016 Mar;43(1):39-53

Department of Cell Biology & Anatomy, University of South Carolina School of Medicine, 6439 Garners Ferry Road, Columbia, SC 29208, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 1044 West Walnut Street, Indianapolis, IN 46202, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clp.2015.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215107PMC
March 2016

Evaluation of genetic causes of cardiomyopathy in childhood.

Authors:
Stephanie M Ware

Cardiol Young 2015 Aug;25 Suppl 2:43-50

Departments of Pediatrics and Medical and Molecular Genetics,Indiana University School of Medicine,Indianapolis,Indiana,United States of America.

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http://dx.doi.org/10.1017/S1047951115000827DOI Listing
August 2015

Clinical Stratification of Pediatric Patients with Idiopathic Thoracic Aortic Aneurysm.

J Pediatr 2015 Jul 24;167(1):131-7.e1-5. Epub 2015 Mar 24.

Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.02.042DOI Listing
July 2015

Toward Personalized Medicine: Does Genetic Diagnosis of Pediatric Cardiomyopathy Influence Patient Management?

Prog Pediatr Cardiol 2015 Jul;39(1):43-47

Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202.

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https://linkinghub.elsevier.com/retrieve/pii/S10589813150000
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http://dx.doi.org/10.1016/j.ppedcard.2015.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568845PMC
July 2015

Genetics and genetic testing in congenital heart disease.

Clin Perinatol 2015 Jun 14;42(2):373-93, ix. Epub 2015 Apr 14.

Department of Pediatrics and Medical and Molecular Genetics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 West Walnut Street, Indianapolis, IN 46202, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00955108150002
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http://dx.doi.org/10.1016/j.clp.2015.02.009DOI Listing
June 2015

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach.

J Cardiovasc Dev Dis 2015 Apr 29;2(2):76-92. Epub 2015 Apr 29.

Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

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http://dx.doi.org/10.3390/jcdd2020076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753096PMC
April 2015

Aortopathy in the 7q11.23 microduplication syndrome.

Am J Med Genet A 2015 Feb 26;167A(2):363-70. Epub 2014 Nov 26.

Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Heart Institute, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.36859DOI Listing
February 2015

Novel Timothy syndrome mutation leading to increase in CACNA1C window current.

Heart Rhythm 2015 Jan 28;12(1):211-9. Epub 2014 Sep 28.

Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Herman B Wells Center for Pediatric Research, Indianapolis, Indiana. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2014.09.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907369PMC
January 2015

Genetic testing practices in infants with congenital heart disease.

Congenit Heart Dis 2014 Mar-Apr;9(2):158-67. Epub 2013 Jun 20.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1111/chd.12112DOI Listing
December 2014

Provision of cardiovascular genetic counseling services: current practice and future directions.

J Genet Couns 2014 Dec 1;23(6):976-83. Epub 2014 May 1.

University of Cincinnati, Cincinnati, OH, USA.

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http://dx.doi.org/10.1007/s10897-014-9719-2DOI Listing
December 2014

Importance of genetic evaluation and testing in pediatric cardiomyopathy.

World J Cardiol 2014 Nov;6(11):1156-65

Muhammad Tariq, Stephanie M Ware, Department of Pediatrics and Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, United States.

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http://dx.doi.org/10.4330/wjc.v6.i11.1156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244613PMC
November 2014

Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation.

Pediatrics 2014 Oct 15;134(4):e1218-23. Epub 2014 Sep 15.

Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2013-2503DOI Listing
October 2014

Heterotaxy-spectrum heart defects in Zic3 hypomorphic mice.

Pediatr Res 2013 Nov 2;74(5):494-502. Epub 2013 Sep 2.

Division of Molecular Cardiovascular Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1038/pr.2013.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176930PMC
November 2013

High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.

J Allergy Clin Immunol 2013 Aug 19;132(2):378-86. Epub 2013 Apr 19.

Division of Allergy and Immunology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1016/j.jaci.2013.02.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3807809PMC
August 2013

Zic3 is required in the migrating primitive streak for node morphogenesis and left-right patterning.

Hum Mol Genet 2013 May 8;22(10):1913-23. Epub 2013 Jan 8.

Division of Molecular Cardiovascular Biology, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1093/hmg/ddt001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3633368PMC
May 2013

Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.

J Genet Couns 2013 Apr 10;22(2):258-67. Epub 2012 Oct 10.

The Heart Institute, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7020, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1007/s10897-012-9544-4DOI Listing
April 2013

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.

Mol Genet Metab 2012 Sep 26;107(1-2):92-4. Epub 2012 Apr 26.

Department of Pediatrics and Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI 53221, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.04.019DOI Listing
September 2012

Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa.

Circ Heart Fail 2012 Sep;5(5):e81-2

The Heart Institute, Divisions of Cardiology and Molecular Cardiovascular Biology, and Division of Dermatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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https://www.ahajournals.org/doi/10.1161/CIRCHEARTFAILURE.112
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http://dx.doi.org/10.1161/CIRCHEARTFAILURE.112.969675DOI Listing
September 2012

The Role of the Geneticist and Genetic Counselor in an ACHD Clinic.

Prog Pediatr Cardiol 2012 Aug 12;34(1):15-20. Epub 2012 Jul 12.

The Heart Institute, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, 240 Albert Sabin Way, MLC 7020, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1016/j.ppedcard.2012.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3462440PMC
August 2012

New Genetic Insights into Congenital Heart Disease.

J Clin Exp Cardiolog 2012 Jun;S8

The Heart Institute, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, 240 Albert Sabin Way, MLC 7020, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.4172/2155-9880.S8-003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401115PMC
June 2012

Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

J Card Fail 2012 May 10;18(5):396-403. Epub 2012 Mar 10.

Department of Pediatrics, Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S107191641200040
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http://dx.doi.org/10.1016/j.cardfail.2012.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3345128PMC
May 2012

Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice.

Hum Mol Genet 2012 Apr 10;21(8):1888-96. Epub 2012 Jan 10.

Division of Molecular Cardiovascular Biology, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.

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http://hmg.oxfordjournals.org/content/early/2012/01/24/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds002
Publisher Site
http://dx.doi.org/10.1093/hmg/dds002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3313802PMC
April 2012

An essential and highly conserved role for Zic3 in left-right patterning, gastrulation and convergent extension morphogenesis.

Dev Biol 2012 Apr 21;364(1):22-31. Epub 2012 Jan 21.

Division of Molecular Cardiovascular Biology, the Heart Institute, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, 240 Albert Sabin Way, MLC 7020, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1016/j.ydbio.2012.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3294024PMC
April 2012

Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.

Am J Med Genet A 2012 Mar 3;158A(3):533-40. Epub 2012 Feb 3.

The Heart Institute, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA.

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http://doi.wiley.com/10.1002/ajmg.a.34426
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http://dx.doi.org/10.1002/ajmg.a.34426DOI Listing
March 2012

Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease.

PLoS One 2011 17;6(8):e23755. Epub 2011 Aug 17.

Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157443PMC
February 2012

Spectrum of clinical diseases caused by disorders of primary cilia.

Proc Am Thorac Soc 2011 Sep;8(5):444-50

Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45244, USA.

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http://pats.atsjournals.org/cgi/doi/10.1513/pats.201103-025S
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http://dx.doi.org/10.1513/pats.201103-025SDDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209578PMC
September 2011

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.

Genome Biol 2011 Sep 21;12(9):R91. Epub 2011 Sep 21.

Division of Molecular Cardiovascular Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1186/gb-2011-12-9-r91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308054PMC
September 2011

Genetic diagnosis in pediatric cardiomyopathy: clinical application and research perspectives.

Authors:
Stephanie M Ware

Prog Pediatr Cardiol 2011 May;31(2):99-102

Department of Pediatrics, the Heart Institute, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH, 45229-3039.

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http://dx.doi.org/10.1016/j.ppedcard.2011.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129816PMC
May 2011

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.

Proc Natl Acad Sci U S A 2011 Feb 31;108(7):2915-20. Epub 2011 Jan 31.

Department of Genetics, The Howard Hughes Medical Institute,Yale University School of Medicine, New Haven, CT 06520, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1019645108
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http://dx.doi.org/10.1073/pnas.1019645108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3041108PMC
February 2011

A mouse model of conduction system patterning abnormalities in heterotaxy syndrome.

Pediatr Res 2010 Oct;68(4):275-80

Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1203/PDR.0b013e3181ee0028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2940945PMC
October 2010

A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation.

J Pediatr 2010 Jul 14;157(1):164-6. Epub 2010 Apr 14.

Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.jpeds.2010.02.044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2886151PMC
July 2010

Replacement of the aortic valve in a patient with mucolipidosis III.

Cardiol Young 2009 Dec 24;19(6):641-3. Epub 2009 Sep 24.

The Heart Institute, Cincinnati Children's Hospital Medical Center and The University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1017/S1047951109991120DOI Listing
December 2009

Disorders of left-right asymmetry: heterotaxy and situs inversus.

Am J Med Genet C Semin Med Genet 2009 Nov;151C(4):307-17

Divisions of Molecular Cardiovascular Biology, Human Genetics, and Cardiology at Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30228
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http://dx.doi.org/10.1002/ajmg.c.30228DOI Listing
November 2009

High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: delineating novel loci for apraxia.

Am J Med Genet A 2009 May;149A(5):887-93

Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.32750DOI Listing
May 2009

Use of FOXJ1CreER2T mice for inducible deletion of embryonic node gene expression.

Genesis 2009 Feb;47(2):132-6

Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1002/dvg.20467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667341PMC
February 2009

Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.

Hum Mol Genet 2007 Jan 21;16(2):187-98. Epub 2006 Dec 21.

Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1093/hmg/ddl461DOI Listing
January 2007

DNA mutation analysis in heterotaxy.

Authors:
Stephanie M Ware

Methods Mol Med 2006 ;126:247-56

Division of Molecular Cardiovascular Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, OH, USA.

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http://dx.doi.org/10.1385/1-59745-088-X:247DOI Listing
December 2006

Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway.

Dev Dyn 2006 Jun;235(6):1631-7

Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1002/dvdy.20719DOI Listing
June 2006

Zic3 is critical for early embryonic patterning during gastrulation.

Dev Dyn 2006 Mar;235(3):776-85

Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1002/dvdy.20668DOI Listing
March 2006

Genetics of human heterotaxias.

Eur J Hum Genet 2006 Jan;14(1):17-25

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1038/sj.ejhg.5201506DOI Listing
January 2006

The Vg1-related protein Gdf3 acts in a Nodal signaling pathway in the pre-gastrulation mouse embryo.

Development 2006 Jan;133(2):319-29

Center for Advanced Biotechnology and Medicine and Department of Pediatrics, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA.

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http://dx.doi.org/10.1242/dev.02210DOI Listing
January 2006

Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy.

Circulation 2005 Nov 24;112(18):2799-804. Epub 2005 Oct 24.

Department of Cardiology, Texas Heart Institute, St Luke's Episcopal Hospital, Houston, Texas, USA.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.104.528281DOI Listing
November 2005

Molecular genetics of heterotaxy syndromes.

Curr Opin Cardiol 2004 May;19(3):216-20

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1097/00001573-200405000-00005DOI Listing
May 2004

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

Am J Hum Genet 2004 Jan 16;74(1):93-105. Epub 2003 Dec 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181916PMC
http://dx.doi.org/10.1086/380998DOI Listing
January 2004