Laura E. Mitchell, PhD Education · Laura E. Mitchell, PhD ... Taylor Schauder UTSPH MPH 2013- Advisor ... Stephanie Fimpong-Badu UTSPH MPH-CMH 2010-2011 Member

Laura E. Mitchell, PhD

Professor, Department of Epidemiology, Human Genetics and Environmental Sciences

University of Texas Health Science Center at Houston (UTHealth) School of Public Health Last Updated: September 2017

Education 1979-1983 B.S., Biology, State University of New York at Stony Brook 1983-1985 M.S., Genetic Counseling, Univ. of Pittsburgh, Graduate School of Public Health 1987-1991 Ph.D., Epidemiology, Yale University, School of Public Health

Board Certification 1987 Genetic Counseling, American Board of Medical Genetics

Primary Professional Appointments 1991-1993 Research Associate, Dept. of Biostatistics, Washington Univ. School of Medicine 1993-1994 Research Assistant Professor, Dept. of Biostatistics, Washington Univ. School of

Medicine 1994-1995 Assistant Professor, Department of Community Health, Saint Louis University,

School of Public Health 1996-1999 Research Assistant Professor, Department of Pediatrics, University of Pennsylvania

School of Medicine 1999-2002 Assistant Professor of Epidemiology in Biostatistics and Epidemiology, and of

Biostatistics and Epid. in Pediatrics, Univ. of Pennsylvania School of Medicine 2002-2008 Associate Professor (with tenure as of 7/04), Institute of Biosciences and

Technology, Texas A&M University System Health Sciences Center 2008-2009 Professor, Institute of Biosciences and Technology, Texas A&M University System

Health Science Center 8/09- Professor, Epidemiology, Human Genetics and Environmental Sciences, University

of Texas Health Science Center at Houston, School of Public Health, Houston, TX 10/09-2015 Associate Dean for Research, University of Texas Health Science Center, School

of Public Health, Houston, TX

Adjunct and Secondary Professional Appointments 1997-1999 Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of

Pennsylvania School of Medicine 1999-2002 Senior Scholar, Center for Clinical Epidemiology and Biostatistics, University of

Pennsylvania School of Medicine 2002-2009 Joint Associate Professor, Department of Biomedical Sciences, Baylor College of

Dentistry, Texas A&M University System Health Sciences Center 2003 -2006 Adjunct Associate Professor of Epidemiology, Department of Biostatistics and

Epidemiology, University of Pennsylvania School of Medicine 2003-2009 Joint Associate Professor, School of Rural Public Health, Texas A&M University

System Health Sciences Center 2007-2009 Adjunct Professor, School of Medicine, Tecnologico de Monterrey, Monterrey,

Nuevo Leon, Mexico 2008-2009 Adjunct Associate Professor in Epidemiology and Disease Control, University of

Texas School of Public Health, Houston, TX 2009- Adjunct Professor, School of Public Health, Texas A&M University System Health

Sciences Center

Laura E. Mitchell, Ph.D. September 2017

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Advisory Boards

2014- UTHealth Center for Clinical and Translational Sciences, External Advisory Board

Committees

2009-2015 Chair, Research Council, University of Texas School of Public Health 2009-2015 Member, Research Council, University of Texas Health Science Center Houston 2009-2015 Member, Research Directors Council, Texas Medical Center 2013-2014 Member, Preliminary Exam Committee, Department of Epidemiology, University of

Texas School of Public Health 2014-2015 Chair, Preliminary Exam Committee, Department of Epidemiology, University of

Texas School of Public Health 2014- Member, National Birth Defects Prevention Study, Genetic Analysis Planning

Group 2016, 2017 Member, Faculty Six-Year Review Committee, University of Texas Health Science

Center at Houston School of Public Health 2016 Three-year Review Committee, Jennifer (Piper) Below 2016- Member, Writing Across the Curriculum Committee, University of Texas Health

Science Center at Houston School of Public Health 2017- Chair, San Antonio Regional Campus, Epidemiology Faculty Search Committee 2017- Co-Chair, Tenure and Promotion Committee, University of Texas Health Science

Center at Houston School of Public Health 2017- Mentoring Committee, AJ Agopian 2017- Mentoring Committee, Kristina Whitworth

Teaching (2005-present)

2005

Course: MSCI 689/UT GS11-00112 Genetic Epidemiology: Association Studies Role: Course instructor Level: Graduate Type: Lecture Credit hours: 2 hours/week # students: 14 Semester: Spring 2005

Course: BMS 5V72 Craniofacial Anomalies Role: Lecturer Level: Dental Type: Lecture Credit hours: 1.5 hours # students: 6-12 Semester: Spring 2005

Course: MSCI 689 Applied Birth Defect Research Role: Course instructor Level: Graduate Type: Lecture + Computer lab


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Credit hours: 4 hours/week # students: 3 Semester: Fall 2005

2007

Course: MSCI 689/UT GS11-00112 Genetic Epidemiology: Association Studies Role: Course instructor Level: Graduate Type: Lecture Credit hours: 2 hours/week # students: 9 Semester: Spring 2007

Course: Birth Defects and Development Journal Club Role: Director Level: Graduate Type: Journal club/seminar Credit hours: N/A (1 hour every other week) # students: variable 6-15 Semester: Spring 2007

2009

Course: MSCI 689/UT GS11-00112/UT PH2840 Genetic Epid.: Association Studies Role: Course instructor Level: Graduate Type: Lecture Credit hours: 2 hours/week # students: 8 Semester: Spring 2009

Course: PH2950 Genetic Epidemiology of Chronic Disease Role: Lecturer (1 lecture) Level: Graduate Credit hours: 2 hours/week # students: ~20 Semester: Spring 2009

2010

Course: PH2950 Genetic Epidemiology of Chronic Disease Role: Lecturer (1 lecture) Level: Graduate Credit hours: 2 hours/week # students: ~20 Semester: Spring 2010

2011

Course: PH2998 Pediatric Epidemiology Role: Instructor


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Level: Graduate Credit hours: 3 # students: 9 Semester: Spring 2011

Course: PH2990 Current Topics in Epidemiology Role: Lecturer (1 lecture) Level: Graduate/Doctoral Credit hours: 1 # students: 15-20 Semester: Spring 2011

Course: PH2985 Writing a Student Research Proposal Role: Instructor Level: Graduate Credit hours: 2 # students: 16 Semester: Fall 2011

2012

Course: PH2998 Pediatric Epidemiology Role: Instructor Level: Graduate Credit hours: 3 # students: 15 Semester: Spring 2012

Course: Foundations of Epidemiology Role: Lecturer (1 lecture) Credit hours: 3 # students: ~20 Semester: Spring 2012

Course: PH9996 Capstone Course Role: Instructor Level: Graduate/MPH Credit hours: 3 # students: 42 Semester: Summer 2012

2013

Course: PH2729 Epidemiology Proposal Development Role: Instructor Level: Graduate/MS Credit hours: 3 # students: 9 Semester: Spring 2013

Course: Foundations of Epidemiology


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Role: Lecturer (1 lecture) Level: Graduate Credit hours: 3 # students: ~20 Semester: Spring 2012

Course: PH9996 Capstone Course Role: Instructor Level: Graduate/MPH Credit hours: 3 # students: 42 Semester: Summer 2013

2014

Course: PH9996 Capstone Course Role: Instructor Level: Graduate/MPH Credit hours: 3 # students: ~40 Semester: Summer 2014

Course: PH9996 Capstone Course Role: Instructor Level: Graduate/MPH Credit hours: 3 # students: 37 Semester: Fall 2014

2015

Course: PH2720 Epidemiology Proposal Development Role: Instructor Level: Graduate/MS and doctoral Credit hours: 3 # students: 19 Semester: Spring 2015


2016

Course: PH2720 Epidemiology Proposal Development Role: Instructor Level: Graduate/MS and doctoral Credit hours: 3


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# students: 16 Semester: Spring 2016

Course: PH9996 Capstone Course Role: Lecturer (1 lecture in each of two sections) Level: Graduate/MPH Credit hours: 3 # students: 40+ Semester: Spring 2016


Course: PH5098 Foundations of Academic Scientific Writing in Public Health Role: Lecturer (1 lecture) Level: Graduate/MS, MPH and doctoral Credit hours: 3 # students: 15 Semester: Fall 2016

2017

Course: PH2720 Epidemiology Proposal Development Role: Instructor Level: Graduate/MS and doctoral Credit hours: 3 # students: 15 Semester: Spring 2017

Course: Independent Study: Genetics of Congenital Heart Defects Role: Instructor Level: Master Credit hours: 1 # students: 1 Semester: Spring 2017

Course: PH5098 Foundations of Academic Scientific Writing in Public Health Role: Lecturer (1 lecture) Level: Graduate/MS, MPH and doctoral Credit hours: 3 # students: ~10 Semester: Spring 2017

PH5098 Foundations of Academic Scientific Writing in Public Health Role: Lecturer (1 lecture)


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Level: Graduate/MS, MPH and doctoral Credit hours: 3 # students: 5 Semester: Fall 2017

Student/Trainee Supervision (2005 – present, all UTSPH students are in Epidemiology unless otherwise noted)

Student Institution Degree Years Role

Academic Advisor and/or Dissertation Director for Doctoral Students

Priyadarshani Dharia UTSPH PhD 2017- Academic Adv. & Comm. Member

Jenil Patel UTSPH PhD 2014- Academic Adv. & Comm. Member

Thanh Hoang UTSPH PhD 2013- Academic Advisor (2013-2015) Committee Member (2016-

Anshuman Sewda UTSPH PhD 2013-8/2016 Academic Adv. & Diss. Director

Ellen Regalado UTSPH PhD 2013- Academic Advisor

Jeannie Yoon UTSPH PhD 2012- Academic Advisor (2012-2013) Dissertation Director (2014- )

Heather Danysh UTSPH PhD 2010-2015 Academic Advisor (2010-2012) Committee Chair (2013-2015)

Marcie Meador UTSPH PhD 2012-2015 Academic Advisor

Bethanie van Horne UTSPH DrPH-CMF 2011-2014 Member (Pre-qual exam, 2011) Dissertation Director (2012-2014)

Zeina Khodr UTSPH PhD 2009-2013 Dissertation Director

AJ Agopian UTSPH PhD 2009-2010 Dissertation Director

Jin Long TAMHSC PhD 2006-2011 Dissertation Director

Analee Etheredge TAMHSC PhD 2005-2010 Dissertation Director

Doctoral Committee Membership

Hiroshi Awata UTSPH PhD-EOHS 2015-2016 Committee Member

Cassie Landrum UTSPH DrPH-CMH 2014- Committee Member

Renata Benjamin UTSPH PhD 2013-2016 Committee Member

Deborah Seghers UTSPH PhD-MAN 2013-2016 Committee Member

Gita Dangol UT-GSBS PhD 2012-2013 Committee Member

Alexander Li UT-GSBS PhD 2011-2015 Committee Member

Philip Lupo UTSPH PhD 2007-2009 Committee Member

Susan Kartiko TAMHSC PhD 2005-2009 Committee Member

Shu Wen TAMHSC PhD 2005-2008 Committee Member

Denise Hill TAMHSC PhD 2005-2007 Committee Member

MS/MPH Advisor

Coltyn Brown UTSPH MPH 2017- Advisor

Sarina Desai UTSPH MPH 2017- Advisor

Sharvari Karande UTSPH MPH 2017- Advisor

Meredith Vinez UTSPH MPH 2017- Advisor

Sarah Littlejohn UTSPH MPH 2017- Committee member & Thesis Adv.

Prasida Mandapati UTSPH MPH 2016- Advisor

Margaret Wood UTSPH MPH 2014-2017 Advisor (Thesis)

Sanjana Srinivasan UTSPH MPH 2014-2015 Advisor

Emilyn Banfield UTSPH MPH 2014-2015 Advisor (Thesis)

Teresa Yiu UTSPH MPH 2014-2015 Advisor (on leave of absence)


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Student Institution Degree Years Role

Aparna Subramaniam UTSPH MPH 2014-2016 Advisor (Capstone)

Taylor Schauder UTSPH MPH 2013- Advisor (left program)

Irving Zamora UTSPH MPH 2013-2014 Advisor (Capstone)

Jafreen Ahmed UTSPH MPH 2013-2014 Advisor (Capstone)

Sumedha Chawla UTSPH MPH 2012-2014 Advisor (Capstone)

Erica Bamgbopa UTSPH MS 2011-2013 Advisor (Thesis)

Heli Bhatt UTSPH MPH 2011-2013 Advisor (Capstone)

Vanessa Yataco UTSPH MS 2011-2012 Advisor (Thesis)

Surabhi Kaul UTSPH MPH 2010-2013 Advisor (Capstone)

Xinlei Deng UTSPH MPH 2010-2012 Advisor (Capstone)

Lisa Spagnolo UTSPH MPH 2010-2011 Advisor (Thesis)

Sarah Swain UTGSBS MS 2009-2011 Thesis Advisor

MS/MPH Committee Member

Harish Joshi UTSPH MS-BST 2012-2013 Member (Thesis)

Bibek Bista UTSPH MPH 2011-2012 Member (Thesis)

Sidyadhar Patnana UTSPH MPH 2010-2012 Member

Aarti Bavare UTSPH MPH-HSR 2010-2012 Member (Thesis)

Jamie Feeny UTSPH MPH-CMH 2010-2011 Member

Stephanie Fimpong-Badu UTSPH MPH-CMH 2010-2011 Member

Practicum Advisor Prasida Mandapati/UTSPH-MPH-Epi (Summer 2017) Margaret Wood/UTSPH-MPH-Epi (Summer 2016) Emilyn Banfield/UTSPH-MPH-Epi (Summer 2014) Sumedha Chawla/UTSPH-MPH-Epi Heli Bhatt/UTSPH-MPH-Epi (Summer/Fall 2012) Surabhi Kahl/UTSPH-MPH-Epi (Fall 2011) Xinlie Deng /UTSPH-MPH-Epi (Fall 2011) Bethanie van Horne/UTSPH-DrPH-CH (Summer 2011) Angelina Upshaw/UTSPH-MPH-HBPS (Spring 2011)

Other Member, Mentorship Committee

2015- Michelle Kaplinksi, Pediatric Cardiology Fellow, The Children’s Hospital of Philadelphia Qualifying exam committee, Baylor College of Medicine

2015 M. O’Neill, Department of Molecular & Cellular Biology 2014 J. White, Graduate Program in Molecular and Human Genetics Qualifying exam committee, Univ. of Texas School of Public Health

2011 B. van Horne 2008 A. Agopian

Steering committee member, first year students at IBT/TAMHSC 2005 Yingchun Chen 2004 Analee Etheredge 2003 Kwang-Hyuk Lee,

Brooke Russell 2002 Kerry Brandl

Jason Shultz Thesis committee member, Texas A&M Univ. School of Rural Public Health


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2003-4 Analee Etheredge Supervisor of practicum (first year research rotation students)

2006 Jin Long (TAMU-Genetics) 2003 Kwang-Hyuk Lee (IBT/TAMHSC)

Shu Wen (IBT/TAMHSC)

Trainee Awards

F31 Predoctoral training grant from NINDS (8/15/07-9/30/10), to Analee Etheredge

Travel Grant, Third Summer Institute in Reproductive and Perinatal Epidemiology (Quebec, 2007) from NICHD, to Analee Etheredge

Travel Grant, Fourth Summer Institute in Reproductive and Perinatal Epidemiology (Vermont, 2008) from NICHD, to Philip Lupo

Travel Grant, Fifth Summer Institute in Reproductive and Perinatal Epidemiology (Quebec, 2009) from NICHD, to A. Agopian

2009-2010 Thomas F. Burks Scholar for Academic Merit, University of Texas Health Science Center, to A. Agopian

Trainee Poster Award, Gulf Coast Women’s Health Research Forum, Houston, TX Sept. 30, 2011, to Z. Khodr

Funded Grants

Title: Spina bifida and maternal weight: moving from association to prevention (PI:Mitchell)

Agency: CDC (U01)

Annual direct: $240,000

Dates: 9/01/2015-8/30/2018

Role: PI

Title: Birth defects surveillance in Texas: Methodological enhancement and impactful data utilization (PI: Canfield)

Agency: CDC


Dates: 2/1/16-1/31/20

Role: Co-Investigator/subcontract PI

Title: Do Cesarean deliveries reduce mortality in infants with birth defects? (PI: Agopian)

Agency: NIH (R01)


Dates: 9/1/2016-8/31/2018

Role: Co-Investigator

Title: Surveillance, intervention, and referral to services activities for infants in Texas with microcephaly and other adverse outcomes linked with the Zika virus (PI: Langlois)

Agency: CDC


Dates: 8/1/2016-7/31/2017 (no-cost extension is anticipated)

Role: Co-Investigator/subcontract PI

Title: Developmental mechanisms of human congenital heart disease (PI: Morrow)


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Agency: NIH (P01)

Annual direct: $1,204,433

Dates: 9/23/2016-6/30/2012

Role: Co-Investigator/subcontract PI (Project 2 and Bio-analytics Core)

Manuscript Reviews (2011-present)

American Journal of Epidemiology American Journal of Medical Genetics Part A and B Bentham Science Publishers (book proposal) Birth Defects Research Part A and B Birth Defects Research BMC Medical Genetics Circulation Circulation: Cardiovascular Genetics Epidemiology European Journal of Oral Sciences Global Journal of Health Science Human Molecular Genetics Journal of Hypertension and Management NeuroMolecular Medicine Pediatrics Pharmacogenetic and Genomics PLOS Genetics Research Square, Rubriq

Editorial Boards 2003-2005 Cleft Palate – Craniofacial Journal, Epidemiology Section Editor 2012- Birth Defects Research Part A, Associate Editor

Editorships Guest Editor, Birth Defects Research Part A, October 2008 NTD Special Issue Guest Editor, Birth Defects Research Part A, August 2014 NTD Special Issue

Grant Reviews

NIH

National Institute of Dental Research Study Section, temporary member 1995, 1996.

National Cancer Institute Study Section, temporary member, 1996.

National Institute of Neurological Disorders and Stroke, Special Emphasis Panel (ZNS1 SRB-K01) for Parkinson's Disease Research Centers of Excellence, member 8/99.

National Institute of Neurological Disorders and Stroke, Special Emphasis Panel (ZNS1 SRB-K02), member 11/99.

National Institute of Child Health and Human Development, Special Emphasis Panel (ZHD1 RRG-K08), member 9/00.


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National Institute of Neurological Disorders and Stroke, Special Emphasis Panel (ZNS1 SRB-K01), member 10/00.

National Institute of Environmental Health Sciences, Special Emphasis Panel, member, 4/9/03.

National Institutes of Health, Epidemiology of Chronic Disease Subcommittee I, Oct 2003 – Feb. 2005.

National Institutes of Health, Cardiovascular Disease and Sleep Epidemiology, June 2005.

National Institute of Health, Infectious Disease, Reproductive Health, Asthma and Pulmonary Epidemiology (IRAP), June 2005-June 2007.

National Institute of Health, IRAP members conflict review committee: 4/07, 7/08

National Institutes of Health, Special Emphasis Panel/Scientific Review Group 2013/10 ZHD1 DSR-K (44) 1, July 2014.

National Institutes of Health, NICHD Special Emphasis Panel/Scientific Review Group ZHD1 DRG-D (IK), September 2016.

National Institutes of Health, NICHD Structural Birth Defects P01 Review ZHD1-DRG-D(50), April 2017

International

Italian Ministry for University and Research, Grants Review Committee, 7/00.

French National Research Agency, Committee CES 10: 6/2014

Research Council of Norway, 6/2017

Institutional (UTHealth)

Schissler Foundation Fellowships in Genetics of Human Disease, University of Texas, Graduate School of Biomedical Sciences: 09/2007

Center for Clinical and Translational Research, University of Texas Health Science Center, Pilot and Collaborative Translational Studies: 01/2010

University of Texas Health Science Center, Scientific Review Committee for Pew Scholars Program in Biomedical Sciences Nominees: 09/2010

University of Texas, School of Public Health, Peer Review Panel: 2010-2015

University of Texas Health Science Center at Houston School of Public Health, Student Travel Scholarship: 02/2017

Meeting where chaired session

55th Annual Meeting of the American Society of Human Genetics, Session 14: Maternal Genetic Effects, October 26, 2005 5th International Neural Tube Defect Conference, September 26, 2007. 8th Research Symposium, Texas Center for Birth Defect Research and Prevention, Lubbock, TX, October 17, 2008


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6th International Neural Tube Defect Conference, Burlington VT, September 12-15, 2009 Fall 2015 Meeting of the Association of Schools of Public Health, Associate Deans for Research (Co-chair), November 7, 2010 8th International Neural Tube Defect Conference, Austin TX, October 2013 10th International Neural Tube Defect Conference, Austin TX, October 2017

Programs and symposiums organized

October 29, 1997 First Annual Meeting of the International Consortium for Oral Clefts Genetics. Baltimore, MD

April 19, 1998 Design and Analysis of Orofacial Cleft Studies, The International

Consortium for Oral Clefts Genetics. Baltimore, MD

Spring, 2002 Genomic Approaches for the Study of Disease Etiology. Philadelphia, PA.

October 26, 2005 55th Annual Meeting of the American Society of Human Genetics, Session 14: Maternal Genetic Effects

September 2009 6th International Neural Tube Defect Conference, Burlington VT

January 26-27, 2010 Genetic Analysis Session, Centers for Birth Defects Research and Prevention, Decatur, GA

November 7, 2010 Fall 2015 Meeting of the Association of Schools of Public Health, Associate Deans for Research

June 15-17, 2011 ASPH Retreat for Associate Deans for Academic Affairs, Finance, Administration, and Research, Chicago IL

November 2011 7th International Neural Tube Defect Conference, Austin TX

October 2013 8th International Neural Tube Defect Conference, Austin TX



Awards

1987 University Scholar, University of Pittsburgh 1987-1989 Natl. Research Service Award, Environmental Health 1989-1990 Natl. Research Service Award, Perinatal Epidemiology 1993 Travel Scholarship, Seventh International Congress on Cleft Palate and Related

Craniofacial Anomalies 2006 Outstanding Contributor, Houston Gulf Coast Spina Bifida Association, 2006. 2007 Delegate, 4th Annual Conference of The Academy of Medicine, Engineering and

Science of Texas. 2012 University of Texas School of Public Health, Mentor-Mentee Award (with Philip

Lupo)


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2013 Nominee, Distinguished Professional Women Award, University of Texas Health Science Center

Invited Presentations 2016-2017

Preventable causes of birth defects. EuroSciCon: Pregnancy and Childbirth (live streamed) 09/13/2016. Birth defects on the Texas-Mexico border, Symposium: Pediatric Morbidity and Mortality on the US-Mexico Border, CityMatCH Leadershp and MCH Epidemiology Conference, Philadelphia, PA, Sept. 14-16, 2016. Research Design and Methods: Population-based Studies, UTHealth Grants 102, Houston, TX, May 10, 2017.

Publications (*indicates student or trainee working with Dr. Mitchell)

Refereed Papers

1. Haddow JE, Hill LE, Kloza EM, Thanhouser D. Neural tube defects after gastric bypass. Lancet i:1330, 1986.

2. Kloza EM, Hill LE, Haddow JE. Open fetal malformations in incorrectly dated pregnancies with initially low maternal serum alpha-fetoprotein results. Lancet ii:275-276, 1987.

3. Haddow JE, Hill LE, Palomaki GE, Knight GJ: Very low versus undetectable maternal serum alpha-fetoprotein values and fetal death. Prenat. Diag. 7:401- 406, 1987.

4. Palomaki GE, Hill LE, Knight GJ, Haddow JE: Second trimester maternal serum alpha-fetoprotein levels in pregnancies associated with gastroschisis and omphalocele. Obstet. Gynecol. 71:906-909, 1988.

5. New England Regional Genetics Group Prenatal Collaborative Study of Down Syndrome

Screening. Combining maternal serum alpha-fetoprotein measurements and age to screen for Down syndrome in women under age 35. Am J Obstet Gynecol 160:571-581, 1989 (participation sited but not by authorship).

6. Mitchell LE, Bracken MB: Reproductive versus chronologic age as a predictor of low birth weight, preterm delivery and intra-uterine growth retardation in primiparous women. Ann. Hum. Biol. 17:377-386, 1990.

7. Mitchell LE, Risch N: Mode of inheritance of non-syndromic cleft lip with or without cleft palate: A reanalysis. Am. J. Hum. Genet. 51:323-332, 1992.

8. Mitchell LE, Risch N: Correlates of genetic risk for non-syndromic cleft lip with or without cleft palate. Clin. Genet. 43:255-260, 1993.


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9. Nirmala A, Mitchell LE, Rice T, Reddy PC, Rao DC: Assessment of adiposity in an Indian population: Familial correlations. Genet. Epidemiol. 10:133-143, 1993.

10. Mitchell LE, Nirmala A, Rice T, Reddy PC, Rao DC: The impact of energy intake and energy expenditure of activity on the familial transmission of adiposity in an Indian population. Am. J. Hum. Biol. 5:331-339, 1993.

11. Mitchell LE, Risch N: The genetics of infantile hypertrophic pyloric stenosis: A reanalysis. Am. J. Dis. Child. 147:1203-1211, 1993.

12. Rice T, Sprecher DL, Borecki IB, Mitchell LE, Laskarzewski PM, Rao DC: The Cincinnati Myocardial Infarction and Hormone (CIMIH) family study: Familial resemblance for dehydroepiandrosterone sulfate in control and myocardial infarction families. Metabolism 42:1284-1290, 1993.

13. Rice T, Sprecher D, Borecki IB, Mitchell LE, Laskarzewski PM, Rao DC: The Cincinnati Myocardial Infarction and Hormone (CIMIH) family study: Family resemblance for testosterone in random and MI families. Am. J. Med. Genet. 47:542-549, 1993.

14. Mitchell LE, Nirmala A, Rice T, Reddy PC, Rao DC: Commingling analysis of adiposity in an Indian population. Int. J. Obesit. 18:1-8, 1994.

15. Mitchell LE, Sprecher DL, Borecki IB, Rice T, Laskarzewski PM, Rao DC: Evidence for an association between dehydroepiandrosterone sulfate and non- fatal, premature myocardial infarction in males. Circulation 89:89-93, 1994.

16. Mitchell LE, Healey SC, Chenevix-Trench G: Evidence for an association between non-syndromic cleft lip with or without cleft palate and a gene located on the long are of chromosome 4. Am. J. Hum. Genet. 57:1130-1136, 1995.

17. Mitchell LE: Sequential analysis of marker data for a rare oligogenic disease. Genet. Epidmiol. 12:647-651, 1995.

18. Mitchell LE, Christensen K: Analysis of the recurrence patterns for nonsyndromic cleft lip with or without cleft palate in the families of 3,073 Danish probands. Am. J. Med. Genet. 61:371-376, 1995.

19. Christensen K, Mitchell LE: Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate - a Danish registry study. Am. J. Hum. Genet. 58:182-190, 1996.

20. Kane AA, Mitchell LE, Craven KP, Marsh JL. Observations on a recent increase in plagiocephaly without synostosis. Pediatrics 97:877-885, 1996.

21. Mitchell LE, Duffy DL, Duffy P, Bellingham G, Martin NG. Genetic effects on variation in red blood cell folate in adults: implications for the familial aggregation of neural tube defects. Am. J. Hum. Genet. 60:433-438, 1997.


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22. Mitchell LE. Transforming growth factor alpha and nonsyndromic cleft lip with or without cleft palate: a reappraisal. Genet. Epidemiol. 14:231-240, 1997.

23. Driscoll DA, Emanuel BS, Mitchell LE, Budarf ML. PCR assay for screening patients at risk for 22q11.2 deletion. Genet. Test. 1:109-113, 1997.

24. Mitchell LE. Differentiating between fetal and maternal genotypic effects using the transmission test for linkage disequilibrium. Am. J. Hum. Genet. 60:1006- 1007, 1997.

25. Goldmuntz E, Clark BJ, Mitchell LE, Jawad A, Cuneo BF, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 32: 492-498, 1998.

26. Mitchell, LE. The relationship between case-control studies and the transmission disequilibrium test. Genet Epidemiol 19:193-201, 2000.

27. Mitchell LE, Murray JC, O'Brien S, Christensen K. Evaluation of two putative susceptibility loci for oral clefts in the Danish population. Am J Epidemiol. 153:1007-1015, 2001.

28. Underkoffler LA, Mitchell LE, Localio AR, Marchegiani SM, Morabito, Collins JN, Oakey RJ. Molecular analysis of nondisjunction in mice heterozygous for a Robertsonian translocation. Genetics 161:1219-1224, 2002.

29. Doolin M-T, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. American Journal of Human Genetics 71:1222-1226, 2002.

30. Mitchell LE, Murray JC, O’Brien S, Christensen, K. Retinoic acid receptor alpha gene variants, multivitamin use and liver intake as risk factors for oral clefts: a population-based case-control study in Denmark, 1991-1994. Am J Epidemiol, 158:69-76, 2003. Selected for inclusion in NIH, Office of Dietary Supplements, Annual Bibliography of Significant Advances in Dietary Supplements Research, 2003.

31. Brown KS, Kluijtmans LAJ, Young IS, Woodside J, Yarnell JWG, McMaster D, Murray L, Evans

AE, Boreham CA, McNulty H, Strain JJ, Mitchell LE, Whitehead AS. Genetic evidence that nitric oxide modulates homocysteine. The NOS3 894TT genotype is a risk factor for hyperhomocystinemia. Arterioscler Thromb Vasc Biol, 23:1014-1020, 2003.

32. Brown KS, Kluijtmans, LAJ, Young IS, McNulty H, Mitchell LE, Yarnell JWG, Woodside JV, Boreham CA, McMaster D, Murray L, Strain JJ, Whitehead AS. The thymidylate sythase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects. Human Genetics, 114:182-185, 2004.

33. Brown KS, Cook M, Hoess K, Whitehead AS, Mitchell LE. Evidence that the risk of spina bifida is influenced by genetic variation at the NOS3 locus. Birth Defects Research (Part A) 70:101-106, 2004.


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34. Brown KS, Kluijtmans LAJ, Young IS, Murray L, McMaster D, Woodside JV, Yarnell JWG, Boreham CA, McNulty H, Strain JJ, Mitchell LE, Whitehead AS. The 5,10-methylenetetrahydrofolate reductase C677T polymorphism interacts with smoking to increase homocysteine. Atherosclerosis, 174:315-322, 2004.

35. Jensen LE, Wall AM, Cook M, Hoess K, Thorn CF, Whitehead AS, Mitchell LE. A common ABCC2 promoter polymorphism is not a determinant of the risk of spina bifida. Birth Defects Research (Part A), 70:396-399, 2004.

36. Spiegelstein O, Mitchell, LE, Merriweather MY, Wicker NJ, Zhang Q, Lammer EJ, Finnell RH. Embryonic development of folate binding protein-1 (Folbp1) knockout mice: effects of the chemical form, dose, and timing of maternal folate supplementation. Developmental Dynamics 231:221-231, 2004.

37. Jensen LE, Barbaux S, Hoess K, Fraterman S, Whitehead AS, Mitchell LE. The human T locus and spina bifida risk. Human Genetics, 115:475-482, 2004.

38. Underkoffler LA, Mitchell LE, Abdulali ZS, Collins JN, Oakey RJ. Transmission ratio distortion in offspring of mouse heterozygous carriers of a (7.18) Robertsonian translocation. Genetics, 169:843-848, 2005.

39. Masilla MA, Kimani J, Mitchell LE, Christensen K, Boomsma DI, Daack-Hirsch S, Nepomucena

B, Wyszynski DF, Felix TM, Martin NG, Murray JC. Discordant MZ twins with cleft lip and palate: a model for identifying genes in complex traits. Twin Research and Human Genetics 8:29-46, 2005.

40. Jensen LE, Hoess K, Whitehead AS, Mitchell LE. The NAT1 C1095A polymorphism, maternal

multivitamin use and smoking, and the risk of spina bifida. Birth Defects Research Part A 73:512-516, 2005.

41. Etheredge AJ*, Christensen K, del Junco D, Murray JC, Mitchell LE. Evaluation of two methods for assessing gene-environment interactions using data from the Danish case-control study of facial clefts. Birth Defects Research (A) 73:541-546, 2005.

42. Mitchell LE, Weinberg CR. Evaluation of offspring and maternal genetic effects on disease risk using a family-based approach: the “Pent” design. American Journal of Epidemiology. 162:676-685, 2005.

43. Rampersaud E, Bassuk AG, Enterline DS, Siegel DG, Melvin EC, Aben J, Allen J, Alysworth A,

Brei T, Bodhurtha J, Buran C, Floyd LE, Hammock P, Iskandar B, Ito J, Kessler JA, Lasarsky N,

Mack P, Mackey J, McLone D, Meeropol E, Mehltrtter L, Mitchell LE, Oakes J, Nye JS, Powell C, Sawin K, Stevenson R, Walker M, West SG, Worley G, Gilbert JR, Speer MC. Whole genome-wide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10. Journal of Medical Genetics 42:940-946, 2005.

44. Jensen LE, Etheredge AJ*, Brown KS, Mitchell LE, Whitehead AS. Maternal genotype for the monocyte chemoattractant protein 1 A(-2518)G promoter polymorphism is associated with the risk of spina bifida in offspring. American Journal of Medical Genetics 140:1114-1118, 2006.


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45. Jensen LE, Hoess K, Mitchell LE, Whitehead AS. Loss of function polymorphisms in NAT1 protect against spina bifida. Human Genetics 120:52-57, 2006.

46. Driscoll DA, Boland T, Emanuel BS, Kirschner RE, LaRossa D, Manson J, McDonald-McGinn,

Randall P, Solot C, Zackai E, Mitchell, LE. Evaluation of potential modifiers of the palatal phenotype in the 22q11 deletion syndrome. Cleft Palate Craniofacial Journal 43:435-441, 2006 (PMCID: PMC2818507).

47. Wen S*, Ethen M, Langlois PH, Mitchell LE. Prevalence of encephalocele in Texas, 1999

2002. American Journal of Medical Genetics 143A:2150-2155, 2007. 48. Stanislawska-Sachadyn A, Woodside JV, Brown KS, Young IS, Murray L, McNulty H, Strain JJ,

Boreham CA, Scott JM, Whitehead AS, Mitchell LE. Evidence for sex differences in the determinants of homocysteine concentrations. Molecular Genetics and Metabolism 93;335-362, 2008.

49. Stanislawska-Sachadyn A, Brown KS, Mitchell LE, Woodside JV,, Young IS, Scott JM, Murray L, Boreham CA, McNulty H, Strain JJ, Whitehead AS. An insertion/deletion polymorphism of the dihydrofolate reductase (DHFR) gene is associated with serum and red blood cell folate concentrations in women. Human Genetics 123:289-295, 2008.

50. Mitchell LE. The Spina Bifida Research Resource: study design and participant characteristics. Birth Defect Research Part A 82:684-691, 2008.

51. Summers CM, Hammons AL, Mitchell LE, Woodside JV, Yarnell JW, Young IS, Evans A, Whitehead AS. Influence of the cystathionine beta-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphism on folate and homocysteine concentrations. European Journal of Human Genetics 16:1010-1013, 2008.

52. Lu Z-Y, Morales M, Khartulyari S, Mei M, Murphy KM, Stanislawska-Sachadyn A, Summers CM,

Huang Y, Von Feldt JM, Blair IA, Mitchell LE, Whitehead AS. Genetic and Biochemical Determinants of Serum Concentrations of Monocyte Chemoattractant Protein-1, a Potential Neural Tube Defect Risk Factor. Birth Defect Research Part A. 82:736-741, 2008. (PMCID in progress).

53. Goldmuntz E, Woyciechowski S, Renstrom D, Lupo PJ*, Mitchell LE. Variants of folate metabolism and the risk of conotruncal heart defects. Circulation: Cardiovascular Genetics, 126-132, 2008 [PMCID: in progress]

54. Goldmuntz E, Driscoll DA, Emanuel BS, McDonald-McGinn E, Mei M, Zackai E., Mitchell LE. Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth Defect Research Part A, 85:125-129, 2009 [PMCID: PMC2810963].

55. Naufal Z, Zhiwen L, Zhu L, Zhou G-D, McDonald T, He LY, Mitchell LE, Ren A, Zhu H, Finnell R, Donnelly KC. Biomarkers of exposure to combustion by-products in a human population in Shanxi, China. Journal of Exposure Science and Environmental Epidemiology, 1-10, 2009.


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56. Roessler E, Pei W, Ouspenskaia MV, Karkera JD, Vels JI, Sharmilla Banerjee-Basu S, Gibney G,

Lupo PJ, Mitchell LE, Towbin JA, Bowers P, Belmont JW, Goldmuntz E, Baxevanis AD, Feldman B, Muenke M. Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart development and holoprosencephaly. Molecular Genetics and Metabolism, 98:225-234, 2009 [PMCID: PMC2774839]

57. Hill D*, Mitchell LE, Finnell RH. Arsenate-induced maternal glucose intolerance and neural tube defects in a mouse model. Toxicol Appl Pharmacol 239:29-36, 2009.

58. Agopian A*, Marengo L, Mitchell LE. Descriptive epidemiology of omphalocele in Texas, 1999-2004. American Journal of Medical Genetics, 149A:2129-2133, 2009 [not NIH funded]

59. Hammons AL, Summers CM, Woodside JV, McNulty H, Stain JJ, Young IS, Murray

L, Boreham CA, Scott JM, Mitchell LE, Whitehead AS. Folate/Homocysteine phenotypes and MTHFR 677C>T genotypes are associated with serum levels of monocyte chemoattractant protein 1. Clinical Immunology, 133:132-137, 2009.

60. Stanisławska-Sachadyn A, Mitchell LE, Woodside JV, Buckley P, Kealy C, Young IS, Scott JM, Murray L, Boreham CA, McNulty H, Strain JJ, Whitehead AS. The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women. Annals of Human Genetics, 73:484-91, 2009 [PMCID: PMC2812009].

61. Mitchell LE, Morales M, Khartulyari S, Huan Y, Murphy K, Mei M, Van Feldt JM, Blair IA, Whitehead AS. Folate and homocysteine phenotypes: Comparative findings using research and clinical laboratory data. Clinical Biochemistry, 42:1275-1281, 2009.

62. Mitchell LE, Long J*, Garbarini, Paluru P, Goldmuntz E. Variants of folate metabolism genes and risk of left-sided cardiac defects. Birth Defects Research A, 88:48-53, 2010 [PMCID:PMC2860744]

63. Lupo PJ*, Symanski E, Chan W, Mitchell LE, Waller DK, Canfield MA, Langlois PH. Differences in exposure assignment between conception and delivery: The impact of maternal mobility. Pediatric and Perinatal Epidemiology, 24:200-208, 2010 [not NIH funded]

64. Wen S*, Zhu H, Lu W, Mitchell LE, Shaw GM, Lammer EJ, Finnell RH. Planar cell polarity pathway genes and risk for spina bifida. Am J Med Genetic, 152A:299-304, 2010 [PMCID: PMC2815123]

65. Lupo PJ*, Goldmuntz E, Mitchell LE. Gene-Gene Interactions in the Folate Metabolic Pathway and the Risk of Conotruncal Heart Defects. Journal of Biomedicine and Biotechnology 2010:630940, 2010. [PMCID: PMC2810479]

66. Lupo PJ*, Symanski E, Waller DK, Chan W, Canfield MA, Langlois PH, Mitchell LE and the National Birth Defect Prevention Study. Polytomous logistic regression as a tool for exploring heterogeneity across birth defect subtypes: An example using anencephaly and spina bifida. Birth Defects Research Part A, 88:701-705, 2010 [not NIH funded]

67. Summers CM, Mitchell LE, Stanislawska-Sachadyn A, Baido SF, Blair IA, Von Feldt JM, Whitehead AS. Genetic and lifestyle variables associated with homocysteine concentrations and


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the distribution of folate derivatives in healthy premenopausal women. Birth Defects Research Part A, 88:678-688, 2010.

68. Stanislawska-Sachadyn A, Woodside JV, Sayers CM, Yarnell JW, Young IS, Evans AE, Mitchell

LE, Whitehead AS. The transcolbalamin (TCN2) 776C>G polymorphism affects homocysteine concentrations among subjects with low vitamin B12 status. European Journal of Clinical Nutrition, 64:1338-1343, 2010.

69. Long J*, Ramadhani T, Mitchell LE. Epidemiology of nonsyndromic conotruncal heart defects in Texas, 1999-2004. Birth Defects Research Part A, 88:971-979, 2010. [not NIH funded]

70. Naufal Z, Zhiwen L, Zhu L, Zhou GD, McDonald T, He LY, Mitchell L, Ren A, Zhu H, Finnell R, Donnelly KC. Biomarkers of exposure to combustion by-products in a human population in Shanxi, China. J Expo Sci Environ Epidemiol. 2010 Jun;20(4):310-9. doi: 10.1038/jes.2009.19. Epub 2009 Mar 11.

71. Lupo PJ*, Symanski E, Waller DK, Chan W, Langlois PH, Canfield MA, Mitchell LE. Maternal exposure to ambient levels of benzene and neural tube defects among offspring, Texas, 1999-2004. Environmental Health Perspectives 119:397-402, 2011 [not NIH funded]

72. Lupo PJ*, Mitchell LE, Goldmuntz E. NAT1, NOS3 and TYMS genotypes and the risk of conotruncal heart defects. Birth Defects Research Part A, 91:61-65, 2011.

73. Lupo PJ, Langlois PH, Mitchell LE. Epidemiology of Epstein anomaly: prevalence and patterns in Texas, 1999-2005. American Journal of Medical Genetics 155A:1007-1014, 2011 [not NIH funded].

74. Case AP and Mitchell LE. Prevalence and patterns of choanal atresia and stenosis among pregnancies in Texas, 199-2004. American Journal of Medical Genetics 155A:786-791, 2011 [not NIH funded].

75. Agopian A*, Mitchell LE. MI-GWAS: a SAS platform for the analysis of inherited and maternal genetic effects in genome-wide association studies using log-linear models. BMC Bioinformatics 12:117, 2011 [PMCID: 3110146].

76. Weymouth KS, Blanton SH, Bamshad MJ, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs

MB, Barnes D, Mitchell LE, Hecht JT. Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot. American Journal of Medical Genetics (A) 155:2170-2179, 2011 [PMCID:3158831].

77. Long J*, Lupo P, Goldmuntz E, Mitchell LE. Evaluation of heterogeneity in the association between congenital heart defects and folate metabolism genes: conotruncal and left-sided cardiac defects. Birth Defects Research Part A 91:879-884, 2011 [PMC3257803].

78. Agopian AJ, Marengo LK, Mitchell LE. Predictors of trisomy 21 in the offspring of older and younger women. Birth Defect Research Part A 94:31-35, 2012.


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79. Agopian AJ, Lupo PJ, Tinker SC, Canfield MA, Mitchell LE and the National Birth Defects Prevention Study. Working towards a risk prediction model for neural tube defects. Birth Defect Research Part A, 94:141-146, 2012.

80. Agopian AJ, Canfield MA, Olney RS, Lupo PJ, Ramadhani T, Mitchell LE, Shaw GS, Moore CA and the National Birth Defects Prevention Study. Spina bifida subtypes and subphenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study. American Journal of Medical Genetics, 2011 Dec 2. doi: 10.1002/ajmg.a.3483 (epub ahead of print) 158A:109-115, 2012.

81. Lupo PJ, Langlois PH, Reefhuis J, Lawson CC, Symanski E, Desrosiers TA, Khodr ZG, Agopian

AJ, Waters MA, Duwe KN, Finnell RH, Mitchell LE, Moore CA, Romitti PA, Shaw GM, National Birth Defects Prevention Study. Maternal occupation exposure to polycyclic aromatic hydrocarbons and gastroschisis among offspring in the National Birth Defect Prevention Study. Environmental Health Perspectives, 120:910-915, 2012 [PMC3385431]

82. Etheredge AJ*, Finnell RH, Carmichael SL, Lammer EJ, Mitchell LE, Shaw GM. Maternal and infant gene-folate interactions and the risk of neural tube defects. American Journal of Medical Genetics 158A:2439-2446, 2012. [PMC3448841]

83. Agopian AJ, Moulik M, Gupta-Malhotra M, Morengo LK, Mitchell LE. Descriptive epidemiology of nonsyndromic complete atrioventricular canal defects. Paediatric and Perinatal Epidemiology 26:515-524,2012. [PMC3482101]

84. Agopian AJ, Lupo PJ, Herdt-Losavio ML, Langlois PH, Rocheleau CM, Mitchell LE. Differences in folic acid use, prenatal care, smoking and drinking in early pregnancy by occupation. Preventive Medicine 55:341-345, 2012.

85. Lupo PJ, Symanski E, Langlois PH, Lawson CC, Malik S, Gilboa SM, Lee LJ, Agopian AJ,

Desrosiers TA, Romitti PA, Correa A, Shaw GM, Mitchell LE. Maternal occupational exposure to polycyclic aromatic hydrocarbons and congenital heart defects among offspring in the National Birth Defects Prevention Study. Birth Defects Research Part A 94:875-881, 2012.

86. Agopian AJ, Eastcott LM*, Mitchell LE. Age of onset and effect size in genome-wide association studies. Birth Defects Research Part A 94:908-911, 2012.

87. Lupo PJ, Canfield MA, Chapa C, Lu W, Agopian AJ, Mitchell LE, Shaw GM, Waller DK, Olshan AF, Finnell RH, Zhu H. Diabetes and obesity genes and the risk of neural tube defects in the National Birth Defects Prevention Study. American Journal of Epidemiology 176:1101-1109, 2012. [PMC3571234]

88. Lee LJ, Canfield MA, Hashmi SS, Moffitt KB, Marengo L, Agopian AJ, Belmont JW, Freedenberg

D, Tanksley SM, Mitchell LE, Lupo PJ. Association between thyroxine levels at birth and choanal atresia or stenosis among infants in Texas 2004-2007, Birth Defects Research Part A 94:951-954, 2012.

89. Agopian AJ, Tinker SC, Lupo PJ, Canfield MA, Mitchell LE. Proportion of neural tube defects attributable to known risk factors. Birth Defect Research Part A 97:42-6, 2013.


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90. Khodr ZG*, Lupo PJ, Canfield MA, Chan W, Cai Y, Mitchell LE. Hispanic ethnicity and acculturation, maternal age and risk of gastroschisis in the National Birth Defects Prevention Study. Birth Defects Research Part A 97:538-545, 2013.

91. Peyvandi S, Lupo PJ, Garbarini J, Woyciechowski S, Edman S, Emanuel BS, Mitchell LE, Goldmuntz E. 22q11.2 deletions in patients witch conotruncal heart defects: data from 1,610 consecutive cases. Pediatric Cardiology 34:1687-1694, 2013.

92. Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD,

Brietbar RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia M, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Maie

SM, Mitchell LE, Newburger JW, Parfenov M, Pe’er I, Porter G, Roberts A, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Siedman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman C, Lifton RP. De novo mutations in histone modifying genes in congenital heart defects. Nature 498:220-223, 2013. [PMC3706629]

93. Gelb B., Porter G., Roberts A., Rosenberg E., Seiden H., Seidman C., Sleeper L., Tennstedt S.,

Schramm C., Burns K., Pearson G., Brueckner M., Breitbart R., Breitbart R., Colan S., Geva J., Monafo A., Stryker J., McDonough B., Seidman J., Seidman J., Edman S., Garbarini J., Hakonarson H., Chung W., Mitchell L., Tusi J., White P., Woyciechowski S., Warburton D., Awad D., Celia K., Etwaru D., Sond J., Korsin R., Goldmuntz E., Lanz A., Marquez E., Williams I., Wilpers A., Yee R., Guevara D., Julian A., Neal M., Mintz C., Peter I., Kaltman J., Sachidanandam R., Romano-Adesman A., Gruber D., Stellato N., Lifton R., Cross N., Deanfield J., Giardini A., Flack K., Taillie E., Kaski J., Tran N., Dandreo K., Gallagher D., Lu M., Berlin D., Beiswanger C., Italia M., Brooks M., Olive M., Botkin J., Kim R., Dupuis J., Garg V., Watson M., Bristow J., Evans T., Kendziorski C., Mardis E., Murray J., Saltz J., Wong H., Kline J., Mercer-Rosa L. (2013). The congenital heart disease genetic network study: Rationale, design, and early results. Circulation Research. 112(4) 698-706. 10.1161/CIRCRESAHA.111.300297

94. Agopian AJ, Lupo PJ, Canfield MA, Mitchell, LE and the National Birth Defects Prevention Study. Swimming pool use and birth defect risk. American Journal of Obstetrics and Gynecology 209:219.e1-9, 2013.

95. Agopian AJ, Bhalla AD, Boerwinkle E, Finnell RH, Grove ML, Hixson JE, Shimmin LC, Sewda A*,

Stuart C, Zhong Y, Zhu H, Mitchell, LE. Exon sequencing of PAX3 and T(brachyury) in cases with spina bifida. Birth Defects Research Part A 97:597-601, 2013.

96. Agopian AJ, Waller DK, Lupo PJ, Canfield MA, Mitchell LE. A case-control study of maternal bathing habits and risk for birth defects in offspring. Environmental Health epub 2013 Oct 16;12:88, DOI: 10.1186/10.1186/1476-069X-12-88, 2013. [PMC4015781]

97. Lupo PJ, Mitchell LE, Canfield MA, Shaw GM, Olshan AF, Finnell RH, Zhu H. Maternal-fetal metabolic gene-gene interactions and risk of neural tube defects. Molecular Genetics and Metabolism 111:46-51, 2014.


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98. Peyvandi S, Ingall E, Woyciechowski S, Garbarini J. Mitchell LE, Goldmuntz E. Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1620 families. American Journal of Medical Genetics Part A 2014;164:1490-1495, 2014.

99. Agopian AJ, Mitchell LE, Glessner J, Bhalla AD, Sewda A*, Hakonarson H, Goldmuntz E. Genome-wide association study of maternal and inherited loci for conotruncal heart defects. PLoS One 2014 May6;9(5)e96057. doi: 10.1371/journal.pone.0096957, 2014. [PMC4011736]

100. Khodr ZG*, Lupo PJ, Agopian AJ, Canfield MA, Case AP, Carmichael SL, Mitchell LE. Preconception folic acid-containing supplement use in the National Birth Defects Prevention Study. Birth Defects Res A 100(6):472-82, 2014.

101. Mitchell LE, Agopian AJ, Bhalla A, Glessner JT, Kim CE, Swartz MD, Hakonarson H, Goldmuntz E. Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations. Hum Mol Genet 24:265-273, 2015 [PMC4326325].

102. Ramakrishnan A, Lee LJ, Mitchell LE, Agopian AJ. Maternal hypertension during pregnancy and the risk of congenital heart defects in offspring: a systematic review and meta-analysis. Pediatric Cardiology 36:442-451, 2015.

103. Swartz MD, Cai Y, Chan W, Symanski E, Mitchell LE, Danysh HE, Langois PH, Lupo PJ. Air toxics and birth defects: a Bayesian hierarchical approach to evaluate multiple pollutants and spina bifida. Environ Health 2015 Feb 9. Doi: 10.1186/1476-069X-14-16, 2015 [PMC4429479]

104. Danysh HE*, Mitchell LE, Zhang K, Scheurer ME, Lupo PJ. Traffic-related air pollution and the incidence of childhood center nervous system tumors: Texas, 2001-2009. Pediatr Blood Cancer 62:1572-1578, 2015.

105. Van Horne B*, Moffitt K, Canfield M, Case A, Greeley C, Morgan R, Mitchell LE. Maltreatment of children under age 2 with specific birth defects: a population-based study. Pediatrics 2015;136(6):e1504-1512.

106. Danysh HE*, Zhang K, Mitchell LE, Scheurer ME, Lupo PJ. Maternal residential proximity to major roadways at delivery and childhood central nervous system tumors. Environ Res 146:315-322, 2016 [Epub 2016 Jan 20].

107. Awata H*, Linder S, Mitchell LE, Delclos GL. Biomarker levels of toxic metals among Asian populations in the U.S.:NHANES 2011-2012. Environ Health Perspect 2017;125(3):306-313 [Epub 2016 Aug 2].

108. Agopian AJ, Hoang TT, Mitchell LE, Morrison AC, Tu D, Nassar N, Canfield MA. Maternal hypertension and risk for hypospadias in offspring. Am J Med Genet A. 2016;170(12):3125-3132 [Epub 2016 Aug 29].

109. Awata H*, Linder S, Mitchell LE, Delclos GL. Association of dietary intake and biomarker levels on arsenic, cadmium, lead and mercury among Asian populations in the U.S.:NHANES 2011-2012. Environ Health Perspect 2017;125(3):314-323 [Epub 2016 Sep 2].


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110. Banfield E*, Brown AL, Peckham EC, Rednam SP, Murray J, Okcu MF, Mitchell LE, Chintagumpala MM, Lau CC, Scheurer ME, Lupo PJ. Exploratory analysis of ERCC2 DNA methylation in survival among pediatric medulloblatoma patients. Cancer Epidemiol doi:10.1016/j.canep.2016.08.020, 2016.

111. Danysh HE*, Mitchell LE, Zhang K, Scheurer ME, Lupo PJ. Differences in environmental exposure assignment due to residential mobility among children with a central nervous system tumor: Texas, 1995-2009. J Expo Sci Environ Epidemiol 2017;27(1):41-46 [Epub 2015 Oct 7].

112. Hoang TT*, Marengo LK, Mitchell LE, Canfield MA, Agopian AJ. Original findings and updated meta-analysis for the association between maternal diabetes and risk for congenital heart disease phenotypes. American Journal of Epidemiology 2017 May 13:1-11, doi:10.1093/aje/kwx033 [Epub ahead of print].

113. Agopian AJ, Goldmuntz E, Hakonarson H, Sewda A*, Taylor D, Mitchell LE; Pediatric Cardiac Genomics Consortium. Genome-wide association studies and meta-analysis for congenital heart defects. Circ Cardiovasc Genet 2017 Jun;10(3):e001449. doi: 10.1161/CIRCGENETICS.116.001449.

114. Kim J, Langlois PH, Mitchell LE, Agopian AJ. Maternal occupation and the risk of neural tube defects in offspring. Arch Environ Occup Helath 2017 Jul 19:1-9. doi: 10.1080/19338244.2017.1356259 [Epub ahead of print].

115. Kim J, Swartz MD, Langlois PH, Romitti PA, Weyer P, Mitchell LE, Luben TJ, Ramakrishnan A, Malik S, Lupo PJ, Feldkamp ML, Meyer RE, Winston JJ, Reefhuis J, Blossom SJ, Bell E, Agopian AJ. Estimated maternal pesticide exposure from drinking water and heart defects in offspring. Int J Environ Res Public Health 2017 Aug 8;14(8). Pii:E889. doi:10.3390/ijerph14080889.

116. Guo T, Repetto GM, McDonald McGinn DM…Mitchell LE, Wang T., Emanuel BS, Morrow BE. Genome-wide association study to find modifiers for tetralogy of Fallot in the 22q11.2 deletion syndrome identifies variants in the GPR98 locus on 5q14.3. Circ Cardiovasc Genetic (accepted for publication 06/29/2017).

117. Hoang TT*, Agopian AJ, Mitchell LE. Maternal use of weight loss products and the risk of neural tube defects in offspring: A systematic literature review. Birth Defects Research (accepted for publication 08/01/2017).

118. Lupo PJ, Agopian AJ, Castillo H, Castillo J, Clayton GH, Dosa NP, Hopston B, Joseph DB,

Rocque BG, Walker WO, Wiener JS, Mitchell LE. Genetic epidemiology of neural tube defects. Pediatric Rehabilitation Medicine (accepted for publication on 08/07/2017).

Non-refereed Papers, Letters and Reports

Mitchell LE. Interpreting the evidence for an association between the retinoic acid receptor locus and nonsyndromic cleft lip with or without cleft palate. J. Med. Genet. 31:425, 1994.


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Mitchell LE. Genetic epidemiology of birth defects. Epidemiol. Rev. 19:61-68, 1997.

Mitchell LE, Christensen K. Evaluation of family history data for Danish twins with nonsyndromic cleft lip with or without cleft palate. Am. J. Med. Genet. 72:120-121, 1997.

Wyszynski DF, Mitchell LE. Report of the newly formed international consortium for oral clefts genetics. Cleft Palate J 36:174-178, 1999.

Treloer SA, Macones G, Mitchell LE, Martin NG. Genetic influences on premature paturition in an Australian twin sample. Twin Research 3:80-82, 2000.

Weinberg CR, Mitchell, LE. Letter regarding “Parental genotypes in the risk of complex diseases”. American Journal of Human Genetics 71:1239-1240, 2002.

Mitchell LE, Beaty T, Lidral A, Munger R, Murray JC, Saal HM, Wyszynski DF. Guidelines for the design and analysis of studies on non-syndromic cleft lip and palate in humans. Summary report from a workshop of the International Consortium for Oral Clefts Genetics. Cleft Palate Craniofacial Journal. Cleft Palate Craniofacial Journal 39:93-100, 2002.

Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS. Spina Bifida. Lancet, 364:1885-1895, 2004. Mitchell LE. Epidemiology of neural tube defects. American Journal of Medical Genetics 135:88-94, 2005.

Mitchell LE and Finnell RH. Papers from the Eighth International Neural Tube Defects Conference. Birth Defects Research A 100:561-562, 2014. Khokha MK, Wallingford J, Mitchell LE. White Paper on the study of birth defects. https://www.nichd.nih.gov/about/org/der/branches/dbsvb/programs/trans_NIH_SBDWG/Documents/BirthDefects_WhitePaper2015.pdf (Submitted to the National Institute of Child Health and Human Development 8/8/2015). Khokha MK, Mitchell LE, Wallingford JB. An Opportunity to Address the Genetic Causes of Birth Defects. Pediatric Research 2017;81(2):282-285 [Epub 2016 Nov 3]. Khokha MK, Mitchell LE, Wallingford JB. White paper on the study of birth defects. Birth Defects Res 2017;109(2):180-185 [Epub 2017 Jan 27]. Mitchell LE. Folic acid for the prevention of neural tube defects: The US Preventive Services Task Force statement on folic acid supplementation in the era of mandatory folic acid fortification. JAMA Pediatr 2017;171(3):217-218 (invited commentary).

Book Chapters

Mitchell LE and Rao DC. Genetic epidemiology of obesity. In: Bray GA, Ryan DH eds. Molecular and Genetic Aspects of Obesity. Pennington Center Nutritional Series, 5. Baton Rouge, LA: Louisiana State University Press, 1996.

https://www.nichd.nih.gov/about/org/der/branches/dbsvb/programs/trans_NIH_SBDWG/Documents/BirthDefects_WhitePaper2015.pdf

https://www.nichd.nih.gov/about/org/der/branches/dbsvb/programs/trans_NIH_SBDWG/Documents/BirthDefects_WhitePaper2015.pdf


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Emanuel BS, Budarf M, Shaikh T, Goldmuntz E, Driscoll D, Mitchell, L. Blocks of duplicated sequence define the endpoints of DGS/VCFS 22q11.2 deletions. In: Etiology and Morphogenesis of Congenital Heart Disease: Twenty years of Progress in Genetics and Developmental Biology. Clark E, Nakazawa M, Takao A, eds. Futura Publishing Company, NY. 2000.

Mitchell LE. Genetics of Cleft Lip and Palate: Mode of inheritance of oral clefts. In: Wyszynski DF, ed. Cleft Lip and Palate: From Origin to Treatment. Oxford University Press. 2002.

Mitchell LE. Twin Studies in Oral Cleft Research. In: Wyszynski DF, ed. Cleft Lip and Palate: From Origin to Treatment. Oxford University Press. 2002.

Mitchell LE, Finnell RH, Whitehead AS. Aetiology and prevention of spina bifida. In: David TJ ed. Recent Advances in Pediatrics. Royal Society of Medicine Press Ltd. 2006.

Finnell RH, Mitchell LE. Neural tube defects. Emery and Rimoin’s Principals and Practices of Medical Genetics, 5th Edition. Churchill Livingston 2006

Mitchell LE, Etheredge AJ*, Hill DS*, Finnell RH. Spina Bifida. In: Lang F, ed. Encyclopedia of Molecular Mechanisms of Disease, Springer, 2008.

Mitchell LE. Epidemiology of Cleft Lip and Palate. In: Losee JE and Kirschner RE, Comprehensive Cleft Care. McGraw-Hill, 2008.

Lupo PJ*, Etheredge AJ*, Agopian A*, Mitchell LE. Epidemiology of Neural Tube Defects. In: Textbook of Perinatal Epidemiology. Nova Science Publishers, 2008.

Lupo PJ*, Etheredge AJ*, Agopian A*, Mitchell LE. Epidemiology of Neural Tube Defects in E. Sheiner, ed., Epidemiological Perspectives of Maternal-Fetal Medicine, Nova Science Publishers, 2011.

Finnell RH, George TM, Mitchell LE. Ch. 114, Neural tube defects. Emery and Rimoin’s Principals and Practices of Medical Genetics, 6th Edition. Elsevier 2013.

Lupo PJ and Mitchell LE. Epidemiology of Cleft Lip and Palate. In: Losee JE and Kirschner RE, Comprehensive Cleft Care, second edition. Thieme, December 2015.