Publications by authors named "Angela Scheuerle"

85Publications

Risk factors and time trends for isolated craniosynostosis.

Birth Defects Res 2020 Oct 22. Epub 2020 Oct 22.

Center for Epidemiology and Population Health, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/bdr2.1824DOI Listing
October 2020

Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.

Hum Mutat 2020 Nov 1;41(11):1999-2011. Epub 2020 Oct 1.

Department of Psychiatry, Weill Institute for Neurosciences and Kavli Institute for Fundamental Neuroscience, School of Medicine, University of California, San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1002/humu.24109DOI Listing
November 2020

Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.

Am J Med Genet A 2020 11 4;182(11):2581-2593. Epub 2020 Sep 4.

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

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http://dx.doi.org/10.1002/ajmg.a.61830DOI Listing
November 2020

An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood.

Am J Med Genet A 2020 10 12;182(10):2399-2402. Epub 2020 Aug 12.

Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.61777DOI Listing
October 2020

Acculturation and selected birth defects among non-Hispanic Blacks in a population-based case-control study.

Birth Defects Res 2020 Apr 5;112(7):535-554. Epub 2020 Mar 5.

Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

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http://dx.doi.org/10.1002/bdr2.1665DOI Listing
April 2020

Defect evaluation by infant photographs in a multicenter pharmaceutical clinical trial.

Birth Defects Res 2020 01 20;112(1):118-121. Epub 2019 Nov 20.

Nora Therapeutics, Inc., Palo Alto, California.

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http://dx.doi.org/10.1002/bdr2.1619DOI Listing
January 2020

Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula.

Am J Med Genet A 2019 11 22;179(11):2202-2206. Epub 2019 Aug 22.

Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, Texas.

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http://dx.doi.org/10.1002/ajmg.a.61337DOI Listing
November 2019

Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.

Birth Defects Res 2019 11 16;111(18):1356-1364. Epub 2019 Jul 16.

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

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http://dx.doi.org/10.1002/bdr2.1549DOI Listing
November 2019

Incontinentia pigmenti in adults.

Am J Med Genet A 2019 08 22;179(8):1415-1419. Epub 2019 May 22.

Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, Texas.

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http://dx.doi.org/10.1002/ajmg.a.61205DOI Listing
August 2019

Selected acculturation factors and birth defects in the National Birth Defects Prevention Study, 1997-2011.

Birth Defects Res 2019 06 25;111(10):598-612. Epub 2019 Apr 25.

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/bdr2.1494
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http://dx.doi.org/10.1002/bdr2.1494DOI Listing
June 2019

Sociodemographic, health behavioral, and clinical risk factors for anotia/microtia in a population-based case-control study.

Int J Pediatr Otorhinolaryngol 2019 Jul 23;122:18-26. Epub 2019 Mar 23.

Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2019.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536360PMC
July 2019

Temporal trends in diagnoses of congenital microcephaly, Texas Hospital Discharge Diagnoses, 2000-2015.

Birth Defects Res 2019 06 12;111(10):584-590. Epub 2019 Mar 12.

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas.

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http://dx.doi.org/10.1002/bdr2.1491DOI Listing
June 2019

Pre-Zika descriptive epidemiology of microcephaly in Texas, 2008-2012.

Birth Defects Res 2018 03 24;110(5):395-405. Epub 2017 Nov 24.

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas.

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http://dx.doi.org/10.1002/bdr2.1164DOI Listing
March 2018

Enamel Pit Defects and Taurodontism in a Patient with Ring Chromosome 14 and 47,XXX.

J Dent Child (Chic) 2017 Jan;84(1):39-43

Professor, Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

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January 2017

Some Intensification and Refining.

J Craniofac Surg 2017 Mar;28(2):308

Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX.

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http://dx.doi.org/10.1097/SCS.0000000000003486DOI Listing
March 2017

Birth defects and neonatal morbidity caused by teratogen exposure after the embryonic period.

Birth Defects Res A Clin Mol Teratol 2016 Nov 11;106(11):935-939. Epub 2016 Aug 11.

Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/bdra.23555DOI Listing
November 2016

Prenatal exposure to zidovudine and risk for ventricular septal defects and congenital heart defects: data from the Antiretroviral Pregnancy Registry.

Eur J Obstet Gynecol Reprod Biol 2016 Feb 24;197:6-10. Epub 2015 Nov 24.

Gillings School of Global Public Health, University of North Carolina at Chapel Hill, NC, United States.

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http://dx.doi.org/10.1016/j.ejogrb.2015.11.015DOI Listing
February 2016

Descriptive epidemiology of birth defects thought to arise by new mutation.

Birth Defects Res A Clin Mol Teratol 2015 Nov 30;103(11):913-27. Epub 2015 Jul 30.

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas.

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http://dx.doi.org/10.1002/bdra.23412DOI Listing
November 2015

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

The Xolair Pregnancy Registry (EXPECT): the safety of omalizumab use during pregnancy.

J Allergy Clin Immunol 2015 Feb 19;135(2):407-12. Epub 2014 Oct 19.

RTI Health Solutions, Research Triangle Park, NC.

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http://dx.doi.org/10.1016/j.jaci.2014.08.025DOI Listing
February 2015

Sociodemographic and hispanic acculturation factors and isolated anotia/microtia.

Birth Defects Res A Clin Mol Teratol 2014 Nov 30;100(11):852-62. Epub 2014 Jul 30.

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas.

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http://dx.doi.org/10.1002/bdra.23282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706758PMC
November 2014

A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data.

Am J Med Genet A 2014 Sep 10;164A(9):2187-99. Epub 2014 Jun 10.

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas.

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http://dx.doi.org/10.1002/ajmg.a.36623DOI Listing
September 2014

Birth defects, causal attributions, and ethnicity in the national birth defects prevention study.

J Genet Couns 2014 Oct 29;23(5):860-73. Epub 2014 Mar 29.

Birth Defects Epidemiology & Surveillance Branch, Texas Department of State Health Services, P.O. Box 149347, Austin, TX, 78714-9347, USA,

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http://dx.doi.org/10.1007/s10897-014-9708-5DOI Listing
October 2014

Mortality in babies with achondroplasia: revisited.

Birth Defects Res A Clin Mol Teratol 2014 Apr 12;100(4):247-9. Epub 2014 Feb 12.

Pediatric Research Center, Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/bdra.23210DOI Listing
April 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

The childless man.

Am J Med Genet A 2014 Feb 5;164A(2):561. Epub 2013 Dec 5.

Tesserae Genetics, Dallas, Texas.

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http://dx.doi.org/10.1002/ajmg.a.36290DOI Listing
February 2014

Response to Mariani et al.: a second report of PARK2 duplication and developmental delay.

Am J Med Genet B Neuropsychiatr Genet 2013 Jul 4;162B(5):484. Epub 2013 Jun 4.

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http://dx.doi.org/10.1002/ajmg.b.32172DOI Listing
July 2013

Association of microtia with maternal nutrition.

Birth Defects Res A Clin Mol Teratol 2012 Dec 23;94(12):1026-32. Epub 2012 Jul 23.

Department of Pediatrics, Stanford University, Stanford, California.

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http://doi.wiley.com/10.1002/bdra.23053
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http://dx.doi.org/10.1002/bdra.23053DOI Listing
December 2012

Descriptive epidemiology of selected heritable birth defects in Texas.

Birth Defects Res A Clin Mol Teratol 2011 Dec 19;91(12):990-4. Epub 2011 Nov 19.

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas 78714-9347, USA.

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http://dx.doi.org/10.1002/bdra.22859DOI Listing
December 2011

Do foreign- and U.S.-born mothers across racial/ethnic groups have a similar risk profile for selected sociodemographic and periconceptional factors?

Birth Defects Res A Clin Mol Teratol 2011 Sep 8;91(9):823-30. Epub 2011 Jun 8.

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, USA.

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http://doi.wiley.com/10.1002/bdra.20839
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http://dx.doi.org/10.1002/bdra.20839DOI Listing
September 2011

Maternal use of hot tub and major structural birth defects.

Birth Defects Res A Clin Mol Teratol 2011 Sep 6;91(9):836-41. Epub 2011 Jun 6.

The University of Texas, Houston Health Science Center, School of Public Health, USA.

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http://dx.doi.org/10.1002/bdra.20831DOI Listing
September 2011

Investigation into an increase in plagiocephaly in Texas from 1999 to 2007.

Arch Pediatr Adolesc Med 2011 Aug 4;165(8):708-13. Epub 2011 Apr 4.

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX 78714-9347, USA.

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http://dx.doi.org/10.1001/archpediatrics.2011.42DOI Listing
August 2011

PARK2 copy number aberrations in two children presenting with autism spectrum disorder: further support of an association and possible evidence for a new microdeletion/microduplication syndrome.

Am J Med Genet B Neuropsychiatr Genet 2011 Jun 25;156B(4):413-20. Epub 2011 Feb 25.

Tesserae Genetics, Dallas, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.b.31176DOI Listing
June 2011

Association of microtia with maternal obesity and periconceptional folic acid use.

Am J Med Genet A 2010 Nov;152A(11):2756-61

California Research Division, March of Dimes Foundation, Children’s Hospital Oakland Research Institute, 5700 Martin Luther King, Jr. Way, Oakland, CA 94609, USA.

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http://dx.doi.org/10.1002/ajmg.a.33694DOI Listing
November 2010

Medicine's questions.

Authors:
Angela Scheuerle

J Craniofac Surg 2010 Sep;21(5):1335

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http://dx.doi.org/10.1097/SCS.0b013e3181ecc573DOI Listing
September 2010

Reading genetic-speak.

Authors:
Angela Scheuerle

J Craniofac Surg 2010 Sep;21(5):1319-20

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http://dx.doi.org/10.1097/SCS.0b013e3181ecc584DOI Listing
September 2010

A physician survey regarding diagnostic variability among birth defects.

Am J Med Genet A 2010 Jun;152A(6):1594-8

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas 78714-9347, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33413
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http://dx.doi.org/10.1002/ajmg.a.33413DOI Listing
June 2010

Occurrence of conotruncal heart birth defects in Texas: a comparison of urban/rural classifications.

J Rural Health 2010 ;26(2):164-74

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas 78714-9347, USA.

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http://dx.doi.org/10.1111/j.1748-0361.2010.00278.xDOI Listing
August 2010

The association between use of spermicides or male condoms and major structural birth defects.

Contraception 2009 Nov 2;80(5):422-9. Epub 2009 May 2.

School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.contraception.2009.03.007DOI Listing
November 2009

Epidemiologic features and clinical subgroups of anotia/microtia in Texas.

Birth Defects Res A Clin Mol Teratol 2009 Nov;85(11):905-13

Texas Birth Defects Epidemiology & Surveillance Branch, Texas Department of State Health Services, Austin, TX 78714-9347, USA.

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http://dx.doi.org/10.1002/bdra.20626DOI Listing
November 2009

A case of Asian Indian OCA3 patient.

Am J Med Genet A 2009 Jul;149A(7):1578-80

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http://dx.doi.org/10.1002/ajmg.a.32930DOI Listing
July 2009

Qualitative descriptors of disease incidence: commonly used and frequently muddled.

Am J Med Genet A 2009 Jul;149A(7):1460-2

Tesserae Genetics, Dallas, Texas 75230, USA.

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http://dx.doi.org/10.1002/ajmg.a.32924DOI Listing
July 2009

Maternal residential proximity to waste sites and industrial facilities and conotruncal heart defects in offspring.

Paediatr Perinat Epidemiol 2009 Jul;23(4):321-31

Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX 78714-9347, USA.

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http://dx.doi.org/10.1111/j.1365-3016.2009.01045.xDOI Listing
July 2009

Urban versus rural residence and occurrence of septal heart defects in Texas.

Birth Defects Res A Clin Mol Teratol 2009 Sep;85(9):764-72

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas 78714-9347, USA.

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http://dx.doi.org/10.1002/bdra.20586DOI Listing
September 2009

Are birth defects among Hispanics related to maternal nativity or number of years lived in the United States?

Birth Defects Res A Clin Mol Teratol 2009 Sep;85(9):755-63

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA.

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http://doi.wiley.com/10.1002/bdra.20584
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http://dx.doi.org/10.1002/bdra.20584DOI Listing
September 2009

Birth defects and military service since 1990.

Mil Med 2009 Feb;174(2):170-6

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Mail Code 1964, P.O. Box 149347, Austin, TX 78714-9347, USA.

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http://dx.doi.org/10.7205/milmed-d-00-3008DOI Listing
February 2009

The prevalence and predictors of anencephaly and spina bifida in Texas.

Paediatr Perinat Epidemiol 2009 Jan;23(1):41-50

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA.

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http://dx.doi.org/10.1111/j.1365-3016.2008.00975.xDOI Listing
January 2009

Measurements of birth defect prevalence: which is most useful as a comparator group for pharmaceutical pregnancy registries?

Birth Defects Res A Clin Mol Teratol 2009 Jul;85(7):611-20

Tesserae Genetics, 9702 Vinewood Drive, Dallas TX, USA.

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http://dx.doi.org/10.1002/bdra.20572DOI Listing
July 2009

Clinical geneticists in birth defects surveillance and epidemiology research programs: past, present and future roles.

Birth Defects Res A Clin Mol Teratol 2009 Jan;85(1):69-75

Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/bdra.20548DOI Listing
January 2009

Alcohol consumption by women before and during pregnancy.

Matern Child Health J 2009 Mar 4;13(2):274-85. Epub 2008 Mar 4.

Texas Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Austin, TX 78756, USA.

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http://dx.doi.org/10.1007/s10995-008-0328-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090563PMC
March 2009

Teenager with uterine didelphys, absent kidney and 22q11.2 deletion.

Authors:
Angela Scheuerle

Am J Med Genet A 2008 Mar;146A(6):800-1

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http://dx.doi.org/10.1002/ajmg.a.32224DOI Listing
March 2008

Diagnosis, counseling, and gender assignment.

Authors:
Angela Scheuerle

Genet Med 2007 Dec;9(12):856; author reply 856

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http://dx.doi.org/10.1097/gim.0b013e31815c5a96DOI Listing
December 2007

Using registry data to suggest which birth defects may be more susceptible to artifactual clusters and trends.

Birth Defects Res A Clin Mol Teratol 2007 Nov;79(11):798-805

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, 1100 West 49th Street, Austin, Texas 78756, USA.

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http://dx.doi.org/10.1002/bdra.20407DOI Listing
November 2007

Residential proximity to waste sites and industrial facilities and chromosomal anomalies in offspring.

Int J Hyg Environ Health 2008 Mar 30;211(1-2):50-8. Epub 2007 Apr 30.

Department of Epidemiology and Biostatistics, Texas A&M Health Science Center School of Rural Public Health, College Station, TX 77843-1266, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S143846390700067
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http://dx.doi.org/10.1016/j.ijheh.2007.02.009DOI Listing
March 2008

Variable co-diagnosis of plagiocephaly and torticollis in Texas health care facilities.

J Craniofac Surg 2006 Mar;17(2):236-40

Tesserae Genetics, Dallas, Texas 75230, USA.

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http://dx.doi.org/10.1097/00001665-200603000-00006DOI Listing
March 2006

The high school reunion model of medical professionalism.

Authors:
Angela Scheuerle

J Craniofac Surg 2005 Sep;16(5):747-8

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http://dx.doi.org/10.1097/01.scs.0000184003.62965.76DOI Listing
September 2005

Complete trisomy 1q with mosaic Y;1 translocation: a recurrent aneuploidy presenting diagnostic dilemmas.

Am J Med Genet A 2005 Oct;138A(2):166-70

Tesserae Genetics, Medical City Dallas, Dallas, Texas, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30940
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http://dx.doi.org/10.1002/ajmg.a.30940DOI Listing
October 2005

Assessing the risk of birth defects associated with antiretroviral exposure during pregnancy.

Am J Obstet Gynecol 2004 Sep;191(3):985-92

Pediatric, Adolescent, and Maternal AIDS Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Md 20892, USA.

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http://dx.doi.org/10.1016/j.ajog.2004.05.061DOI Listing
September 2004

Clinical review procedures for the Antiretroviral Pregnancy Registry.

Pharmacoepidemiol Drug Saf 2004 Aug;13(8):529-36

PA Genetics, Teratology and Ethics Consulting, TX, USA.

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http://dx.doi.org/10.1002/pds.971DOI Listing
August 2004

Birth defect classification by organ system: a novel approach to heighten teratogenic signalling in a pregnancy registry.

Pharmacoepidemiol Drug Saf 2002 Sep;11(6):465-75

Genetics, Teratology and Ethics Consulting, Dallas, Texas, USA.

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http://doi.wiley.com/10.1002/pds.726
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http://dx.doi.org/10.1002/pds.726DOI Listing
September 2002