curriculum vitae name: present title · 1 august 2018 . curriculum vitae. name: hope northrup, m.d....

1

August 2018 CURRICULUM VITAE NAME: Hope Northrup, M.D. PRESENT TITLE: Director, Division of Medical Genetics Professor, Department of Pediatrics ADDRESS: The University of Texas Medical School at Houston 6431 Fannin, MSB 3.144B Houston, Texas 77030 BIRTH DATE: January 24, 1958 CITIZENSHIP: USA UNDERGRADUATE EDUCATION: BS, College of Charleston, 1979, Charleston, South Carolina, Major: Biology GRADUATE EDUCATION: MD, Medical University of South Carolina, 1983, Charleston, South Carolina POSTGRADUATE EDUCATION: 1983-1986 Internship and Residency in Pediatrics Children’s Medical Center Southwestern Medical School, Dallas, Texas 1986-1989 Fellowship in Genetics Institute for Molecular Genetics (now Department of Molecular and Human Genetics) Baylor College of Medicine, Houston, Texas ACADEMIC APPOINTMENTS: September 2006 - Present Vice Chairman, Department of Pediatrics September 1994 - Present Director, Division of Medical Genetics Department of Pediatrics The University of Texas Medical School at Houston Houston, Texas September 1999 – Present Professor

2

Department of Pediatrics, UTMS-H September 1993 - 1999 Associate Professor Department of Pediatrics, UTMS-H September 1989 - 1993 Assistant Professor Department of Pediatrics, UTMS-H 1990-1992 Associate Member of The Graduate School of Biomedical Sciences Faculty, UTHSC-H 1992 - Present Regular Member of The Graduate School of Biomedical Sciences Faculty, UTHSC-H 1991 - 2001 Medical Director, Biochemical Genetics Testing Laboratory, Hermann Hospital 1993 - Present Director, Fellowship Training Program in Medical Genetics 1993 – Present Medical Director, Genetic Counseling Training Program 1997 – Present Director, Medical Genetics Residency Training Program 1989 - Present Active Member, Medical and Scientific Staff, Shriners Hospital for Children - Houston Unit HOSPITAL APPOINTMENTS: Hermann Hospital Shriners Hospital for Children - Houston Unit Lyndon B. Johnson General Hospital LICENSURE: Texas State Board of Medical Examiners License # H4843 CERTIFICATION: American Academy of Pediatrics, 1988 (permanent certificate) American Board of Medical Genetics (Biochemical, Clinical, and Molecular; permanent certificates), 1990 PROFESSIONAL ORGANIZATIONS: American Academy of Pediatrics American Society of Human Genetics American College of Medical Genetics, Founding Fellow (1993) Society for Pediatric Research, 1995 HONORS: Phi Kappa Phi Sigma Alpha Phi Foundation Scholar (1975-79)

3

Sea Grant Awardee (1978) Outstanding Graduate from the Department of Biology (1979) Magna Cum Laude (1979) Diplomate of the National Board of Medical Examiners (1984) NIH Fellowship (January 1988 - June 1989) Searle Scholar Nominee (1990) Dean’s Award for Excellence in Teaching (1990, 1993, 1995, 2002, 2003, 2004, 2007, 2010, 2012) Basic Science Teaching Award in Medical Genetics (1991, 1992, 1994, 1995) American Cancer Society Junior Faculty Research Award (1991-1994) The Best Doctors in America: Central Region (1996, 1997) The Best Doctors in America (1996-2005) Houston’s Best Doctors, Inside Houston (2002) GSBS Dean’s Excellence Award (1996, 1997, 1998, 1999, 2000, 2001, 2003) America's Top Doctors (2001-2015) Manuel R. Gomez Professional Recognition Award (2003) Nominated for Physician of the Year at Children’s Memorial Hermann Hospital (2006) Texas Super Doctors (2008, 2009, 2010, 2011, 2012, 2013, 2014, 2015) Top Doctor by US News and World Report (2011) Top 1% of Physicians by US News and World Report (2012) Wise Woman Award recipient April 23, 2012 2016 Recipient of a Regents Outstanding Teaching Award (ROTA) for the University of Texas System (cash award $25,000) SERVICE ON NATIONAL, GRANT REVIEW PANELS, STUDY SECTIONS: Professional Advisory Board of the National Tuberous Sclerosis Association, 1990-95, Re-appointed 1995-present Committee: Gene Linkage (1990-1995) Clinical Care (1995-1997) Chair, Clinical Care Committee (1997-2004) Board of Directors, National Tuberous Sclerosis Association, 1997-2006 Ad Hoc Reviewer: American Journal of Human Genetics, Genomics, American Journal of Pathology, Human Molecular Genetics, Circulation, Human Heredity, American Journal of Medical Genetics, Journal of Medical Genetics, Lancet, Prenatal Diagnosis, Human Genetics, Genetics in Medicine, Lancet Oncology, European Journal of Human Genetics National Institutes of Health Special Study Section: Child Health Research Center Grants, April 1995 Ad Hoc Reviewer for NIH ELSI Study Section, Fall 2002 and Summer 2006 Ad Hoc Reviewer NIH Study Section, June 2011 Reviewer for Department of Defense TSC Research Program (TSCRP) 10/19/2011-10/21/2011

4

SERVICE ON COMMITTEES: Department of Pediatrics: Grand Rounds Committee, 1990 - 1998 Executive Steering Committee, 1993 – 1994; 2000 - 2006 Faculty Advisor for Resident Support Group, 1990 - 1995 Co-Chair Research Committee, 1993 - 1994 Research Committee Member, 1995 – 2007 Chairman Clinical Competency Committee (CCC) for Categorical Pediatric Residency Program 2013-present Chairman Pediatric Promotions Committee 2012-present Member Scientific Oversight Committee Neonatology Fellowship Training Program 2012-present Ad Hoc Member Medical Genetics Residency Program Clinical Competency Committee (CCC) 2014-present Search Committee for Neonatal Division Chief 2015- 2016 (Dr. Amir Khan) Medical School: Faculty Senate, 1990 - 1993 UCRC Scientific Advisory Committee, 1992 - 1995 Alternate (Consultant) member, CPHS, 1996 – 2006 MSRDP Board of Directors, 2000 – 2003 Faculty Appointments, Promotions and Tenure Committee, 2001 – 2010 Chairperson, Session on Proteomics at the Medical School Basic Science Retreat, Feb. 28-March 1, 2003 Pathology Chair Search Committee, Summer - Fall 1996 (Dr. Robert Hunter) Psychiatry Chair Search Committee, 2009 (Dr. Jair Soares) Microbiology Chair Search Committee, Summer - Fall 2010 (Dr. Theresa Koehler) Pediatric Chair Search Committee, 2012 (Dr. Eric Eichenwald) Pediatric Chair Search Committee 2016 FAPTC 6-Year Review Committee 2011-present Graduate School of Biomedical Sciences: Steering Committee for the Program in Genetics, 1994 - 1998 Curriculum Committee for the Program in Genetics, 1993 - 1995 Specialized Masters Committee, 1993 – 1996 University of Texas Health Science Center: Interfaculty Council, 1993 - 1995 Search Committee for Director, Institute for Molecular Medicine, July 1998 Co-Director GeneXEnvironment Burroughs Welcome Research Program 2010-2014 Statewide: TexGene Steering Committee, 1994 – 2001 Metabolic Consultants Committee for the Texas Department of Health, 1992 – Present Interagency Council on Genetics (elected to serve as the providers’ representative), 2000 - 2004

5

National: Chair, National Tuberous Sclerosis Association Meeting, October 1997 Co-Chair, Tuberous Sclerosis Consensus Conference, Annapolis MD, July 1998 Co-Chair, Clinical Panel, International Tuberous Sclerosis Consortium, July 1998 TS Alliance Database Steering Committee for Natural History Study Project 2006-present American Council on Graduate Medical Education (ACGME) Residency Review Committee (RRC) for Medical Genetics, 1998-2003, Vice-Chairman 2001; Chairman 2002-2003 Executive Committee of the Section of Genetics and Birth Defects, American Academy of Pediatrics, November 1999 – 2005. Member, Nominating Committee for American Board of Medical Genetics (ABMG; 2003) and for ABMGG (ABMG name changed to add “and Genomics”; 2016) Member, ASHG Program Committee, 2005-2007 Co-Chair TSC Consensus Conference Conference 6/13/2012; International meeting with 80 participants from 14 countries that set the standard worldwide for clinical care in TSC TS Alliance International Scientific Advisory Board 2010-present Reviewer TS Alliance Grants Program 2014 Member, ACMG Program Committee 2013-2017; Vice Chairman 2015 Annual Meeting and Chair 2016 Annual Meeting Member, MOC (Maintenance of Certification) Committee for ABMGG, 2/2016 Vice President Medical Genetics Training Program Directors, 2016-2018; President Medical Genetics Training Program Directors 2018-present Member, ITE Book Committee for Medical Genetics of the NBME (National Board of Medical Examiners), 2016-present Council Member Association of Professors of Human and Medical Genetics 2018-present SERVICE TO THE COMMUNITY Provided lectures at St. Mark’s Episcopal School on Medical Genetics for 6th Grade Science Class 2005 and 2006 Provided lectures at Presbyterian School on Medical Genetics for 7th Grade Life Skills Class 2011-2012 and 2012-2013 (lecture given quarterly each year) SUPERVISORY COMMITTEES FOR GRADUATE STUDENTS: THESIS ADVISOR: Specialized Masters Degree in Genetic Counseling Pamela J. Nachajski 1992 Fara K. Etzel 1994 Robin McKenney 1995 (Winner of the student competition for poster presentation Texas Genetic Society Meeting 1995)

6

Patricia Zartman 1996 Noelle Romaine 1997 Michelle Strecker 1999 Betsy Clark-Gay 2001 Laura Valentine 2002 Travis Morgan 2009 Lauren Murphy 2009 Kate Mowrey 2018 Masters Student Timothy J. Kirkpatrick 2003 PhD Students Kelly A. Volcik 2001 Michelle O’Byrne (previously MR Dewhurst) 2009 CO-THESIS ADVISOR (Aimee J. Williams or Catherine L. Wicklund or Jessica Davis, Advisor): Specialized Masters Degree in Genetic Counseling Stephanie Manzo 2002 Jennifer Seifert 2002 Carolyn Wilson 2003 Victoria Wagner 2016 MEMBER OF THESIS ADVISORY COMMITTEE: Specialized Masters Degree in Genetic Counseling Deborah L. Durand 1991 Marnie K. Rocklin 1993 Rebecca L. Finkbonner 1993 Cassidy A. Rodnick 1994 Jill T. Sawyer 1995 Carol Lynn Lochmiller 1996 Sadie Ellen Maynard 1996 Ellen Friday 1997 Melissa Trant 1998 Erika Martin 1998 Leslie Rogers 2000 Saleen Chenevert 2000 Valerie Banks 2002 Alice Schindler 2004 Andrea Atherton 2004 Cynthia Trotter 2005 Kaylene Ready 2006 Gabriel Lazarian 2006 Erin Salo 2007 Cathy Sullivan 2007 Amy Stanford 2007 Emily Gabitzsch 2011 Samantha Penney 2012 Kayla Vaughn 2014 Katie Chan 2016 Masters Degree Jonathan D. Stein 1995 Deborah Hogue 1999 Sarah Baume 2000 Stacia Vaughn 2000 Anna Carr 2000 PhD Student Rachel McGuire 1997 Melanie Sohocki 1997 Kimberly Malone 2001 Sarah Bowne 2001 Magalie Leduc 2009 Audrey Ester 2010

7

Catie Spellicy 2009 Jennifer Churchill 2013 Alex Li 2015 SUPERVISOR SUMMER MEDICAL OR DENTAL STUDENT RESEARCH TRAINEES: Nguyen-Phuong Nguyen 1990 Anna Lichorad 1991 Jennifer Finch 1995 Fara Etzel 1996 (Winner, Frank Webber Prize for (Winner, Frank Webber Prize for Student Research) Student Research) Joseph A. Rodriguez 1997 Adrienne Hinkle 1997 Pamela K. Capik 2001 Teresa K. Smith 2003 (3rd Place, Frank Webber Prize Competition for Student Research) Nancy Tran (Dental, 2nd place poster contest for Summer Research Projects) 2005 Edward Espinelli 2006 Dakota Lane 2011 Sarah Jechow 2011 Cherry Onaiwu 2011 Jill Semple 2014 SUPERVISOR FOR MEDICAL GENETICS SUMMER SCHOLARS PROGRAM-PROGRAM PROVIDED IN COLLABORATION WITH THE AMERICAN COLLEGE OF MEDICAL GENETICS Stephanie Oliver (UTHSC-Houston) 2013 Kelly West (UTHSC-Houston) 2014 Jennifer Cassady (UTHSC-Houston) 2014 Albert Heo (UTHSC-Houston) 2015 Miranda Miller (UTHSC-Houston) 2015 Oscar Dao (UTSW, Dallas) 2015 Taylor Dess (UTSW, Dallas) 2016 Ana Solis Zavala (UTHSC-Houston) 2016 Amy Durand (UTHSC-Houston) 2016 Luke Hebert (UTHSC-Houston) 2017 Hannah Uhlig (UTHSC-Houston) 2017 Julia Chernis (UTHSC-Houston) 2017 Jessica Bolen (OU) 2017 Alexandra Janda (UTHSC-Houston) 2018 Amanda Clorfeine (UTHSC-Houston) 2018 Monica Herbst (UTHSC-Houston) 2018 SUPERVISOR MEDICAL STUDENTS WITH EMPHASIS IN NEUROSCIENCES: Catherine Riley 2013 (for summer as part of the UT Health Medical Genetics Summer Scholars Program funded through DSHS) SUPERVISOR SUMMER UNDERGRADUATE RESEARCH TRAINEES: Martin Simchowitz 2005 William Misek 2005 Sarah Fielder 2011 (Gene X Environment Burroughs Welcome Program) Mai Huynh 2013 (Gene X Environment Burroughs Welcome Program) Jennifer Cassady 2013 and 2014 (UT Health Medical Genetics Summer

Scholars Program funded by DSHS)

8

Sarah Jane Bassett 2014 (Gene X Environment Burroughs Welcome Program) SUPERVISOR POSTDOCTORAL FELLOWS and MEDICAL GENETICS RESIDENTS: (year listed is year of training completion) Joan Mastrobattista, MD 1994 Kit Sing Au, PhD 1995 Joseph A. Rodriguez, PhD 1996 Verna Rose, MD 1998 Heather R. Prashner, MD 1997 Pamela Plotner (Trapane), MD 2001 Catherine Ward, MD 2005 Neena Champaigne, MD 2006 Christina Davidson, MD 2007 Carla Martinez, MD 2009 Heather C. Crawford, MD 2009 Clint Cormier, MD 2010 Audrey C. Woerner, MD 2011 Chiamaka Aneji, MD 2011 Melissa Tilley, MD 2011 Catie Spellicy, PhD 2012 Benjamin Kase, MD 2013 Dan Connealy, MD 2014 Joy Tenpenny, MD 2014 Jackie Ruggiero 2014 Joseph Ray, MD 2014 Claudia Soler, MD 2014 Laura Farach, MD 2015 Margaret Nguyen, MD 2016 Tina Findley, MD 2016 Rita Shah, MD 2016 Candice Nolan, MD 2017 Anjali Aggarwal, MD 2018 Craig V. Baker, MD 2019 Paul R. Hillman, MD, PhD 2019 Stephanie Baskin, MD 2020 CURRENT TEACHING RESPONSIBILITIES: Lecturer, Medical Genetics Course for Second Year Students (Medical Genetics Course and Pathology Course) until 2017 Lecturer, Fundamentals of Medicine 2016 to present for First Year Students Lecturer, Topics in Medical Genetics I and II (First and Second Year Students, Master’s in Genetic Counseling program) Didactic teaching to medical students, genetic counseling Master’s students, pediatric residents, med-peds residents, medical genetics residents, pediatric endocrinology fellows, molecular genetic pathology fellows (MD Anderson and Methodist programs) and maternal fetal medicine fellows during months as Medical Genetics attending. Lecturer, Core Pediatrics Course for Third Year Students (Pediatrics Course) until 2012 CURRENT GRANT SUPPORT

1. Tuberous Sclerosis Alliance. “Natural History Database Project Leadership Award”. 4/1/11-

12/31/17, $37,500 (annually). PI: Hope Northrup, MD

9

2. NIH ACE Network RO1, “Early Biomarkers of Autism Spectrum Disorders in Infants with Tuberous Sclerosis Complex”. 07/01/12-06/30/18, .PIs: Sahin (Boston Children’s Hospital) and Kruger (Cincinnati Children’s Hospital), Site-PI: Northrup, MD

3. Texas Department of State Health Services. “Teratogen Information Services.” 9/1/17-8/31/18,

$125,998. PI: Hope Northrup, MD

4. Biomarin Pharmaceutical Inc. “PEG-PAL 2”. 3/1/14-2/28/18. CoI: Hope Northrup, MD

5. NIH/NICHD R01HD073434-01A1, “Creating a myelomeningocele exome variant map to facilitate identification of genetic risk factors for the development of myelomingocele.” 05/01/14-04/30/19, $2,384,563. PI: Kit Sing Au, Co-I: Hope Northrup, James E Hixson, Alanna C Morrison.

6. NIH 1 U54 NS092090-01, “Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations” 09/01/14-08/31/19, $530,950 (UT site total). PI: Hope Northrup, Co-I Kit Sing Au - Director of Genetic Core.

7. Texas Department of State Health Services (DSHS) Medical Genetics Summer Scholars

Program, $30,000 annually 2013, 2014, 2015, 2016 and 2017. Educational program to fund up to 3 trainees per year who are currently medical students interested in the specialty of Medical Genetics.

8. University of Texas Health Science Center at Houston. “Presidential Collaborative Award.” 2/1/2017 – 1/31/2018, $100,000. PI: Hope Northrup.

9. Shire-American College of Medical Genetics (ACMG). “Next Generation Medical Genetics Training Awards Program,” 7/1/2017-6/30/2019. $ 150,000. PI: Hope Northrup.

PREVIOUS GRANT SUPPORT Principle Investigator: 1. American Cancer Society Research Grant, PDT-435, “Linkage Studies of Multigenerational

Families with Tuberous Sclerosis”. 7/1/91-12/31/93, $108,000. P.I.: Hope Northrup, M.D. 2. National Tuberous Sclerosis Association, “National Collaborative Tuberous Sclerosis Linkage

Project”. 7/1/92-6/30/93, $10,500, renewed 7/1/93-6/30/94, $10,500. PI: Hope Northrup, MD 3. American Cancer Society Junior Faculty Research Award, JFRA-354, “Molecular Genetic

Studies for Tuberous Sclerosis”. 7/1/91-6/30/94, $84,500. PI: Hope Northrup, M.D. 4. University Clinical Research Center Grant, NIH MO1 RR02558, Patient Care Cost Support,

“Tuberous Sclerosis: Clinical and Genetics Studies”. 4/1/90-11/30/95, up to $32,060/year (can evaluate up to 50 patient/year).

10

5. The Women’s Fund for Her, “The Role of TSC2 in Formation of Fibroids”. 1/1/96-12/31/97, $30,000. PI: Hope Northrup, MD

6. Texas Department of Health, “Comprehensive Genetic Services”. 9/1/96-8/31/97, $94,341. PI:

Hope Northrup, MD 7. Texas Department of Health, “Genetic Services: Metropolitan Houston and Outreach”. 1/1/96-

8/31/97, $299,044. PI: Hope Northrup, MD 8. Texas Department of Health, “Comprehensive Metropolitan and Outreach Genetic Services”

and “Medical Education for Professionals, the Lay Public and Patients”. 9/1/97-8/31/98, $215,107. PI: Hope Northrup, MD Renewed: 9/1/98-8/31/99, $269,107. Renewed: 9/1/99-8/31/00, $262,537. Renewed: 9/1/00-8/31/01, $260,000. Renewed: 9/1/01-8/31/02, $240,000. Renewed: 9/1/02-8/31/03, $171,000. Renewed: 9/1/03-8/31/04, $151,300. PI: Hope Northrup, MD Renewed: 9/1/04-8/31/05, $195,000.

9. National Institutes of Health First Award, “Cloning of the Tuberous Sclerosis Gene on

Chromosome 9q”. 1/1/94-12/31/98, $517,914. PI: Hope Northrup, MD 10. National Tuberous Sclerosis Association, “Tuberin: Function, Dysfunction and Tumor

Formation”. 12/1/96-11/30/99, $180,000. PI Hope Northrup, MD 11. National Tuberous Sclerosis Association, “Development of a Rapid Protocol to Detect TSC1

and TSC2 Gene Mutations”. 2/1/99-1/31/00, $31,572. Co-PI: Hope Northrup, M.D. 12. National Tuberous Sclerosis Association, “Molecular Studies of Tuberous Sclerosis Complex

(TSC) with Phenotypic Correlation”. 2/1/00-1/31/01, $104,000. PI: Hope Northrup, MD Bridging Renewal 1/31/01-7/31-01, $43,333.

13. Tuberous Sclerosis Alliance, "Molecular Studies of Tuberous Sclerosis Complex (TSC) with

Phenotypic Correlation". 7/1/01-6/30/02, $95,449. PI: Hope Northrup, MD 14. Shriners Hospital for Children, “Neural Tube Defects: Epidemiologic and Genetic Factors”.

1/1/98-12/31/00, $288,133. PI: Hope Northrup, MD 15. Shriners Hospital for Children, “Neural Tube Defects: Genetic Factors”. 1/01-12/03,

$338,768. PI: Hope Northrup, MD 16. Shriners Hospital for Children, “Neural Tube Defects: Genetic Factors”. 1/04-12/31/06,

$608,169. PI: Hope Northrup, MD 17. Shriners Hospital for Children, “Genotype/Phenotype Correlations in Vitamin D Resistant

Hypophosphatemic Rickets: Implications for Therapy”. 1/02 –12/02, $36,947. PI: Hope Northrup, MD

11

18. National Institutes of Health Program Project, Project 1, “Molecular Genetic Studies of Neural Tube Defects”. 3/20/98-2/28/03, $704,270. PI: Hope Northrup, MD (Priority score 3.2%).

19. Texas Scottish Rite Hospital, “Development of a Rapid Protocol to Detect TSC1 and TSC2

Gene Mutation”. 7/1/00-6/30/05, $190,000. PI: Hope Northrup, MD 20. Tuberous Sclerosis Alliance, “Molecular Studies of Tuberous Sclerosis Complex (TSC) with

Phenotypic Correlation”. 7/01/02-6/30/05, $245,948. PI: Hope Northrup, MD 21. Texas Department of State Health Services, “Genetic Core Services-GeneWise”. 9/1/07-

12/31/08, $78,134. PI: Hope Northrup, MD 22. National Institutes of Health Program Project - Project 1, "Spina Bifida: Cognitive and

Neurobiological Variability ". (2/1/06-1/31/10, $1,613,479). Current Year 2/1/08-1/31/09, $125,470 (direct costs). PI: Hope Northrup, MD

23. Tuberous Sclerosis Alliance, “TSC Clinic Development Award”. 6/14/09-6/30/10, $6,000. PI:

Hope Northrup, MD 24. Tuberous Sclerosis Alliance, “TSC Natural History Database Project”. 1/1/08-6/30/10,

$33,760. PI: Hope Northrup, MD

25. Texas Department of State Health Services. “Teratogen Information Services.” 4/1/11-8/31/11, $104,375, 9/1/11-8/31/12, $125,996, 9/1/12-8/31/13, $125,996, 9/1/13-8/31/14, $125,996. PI: Hope Northrup, MD

26. Texas Department of State Health Services, “Comprehensive Metropolitan and Outreach Genetic Services”. 9/1/05-8/31/06, $195,298; 9/1/06-8/31/07, $175,000; 9/1/07-8/31/08, $213,650; 9/1/08-8/31/09, $131,101; 9/1/09-8/31/10, $135,955; 9/1/10-8/31/11, $125,956. 9/1/11-8/31/12, $125,956, 9/1/13-8/31/14, $38,203. PI: Hope Northrup, MD

27. Shriners Hospital for Children, “Characterizing the Role of the Transcription Factor Gene

Grainyhead-Like 3 in Formation of Spina Bifida Meningomyelocele (SBMM).” 1/1/10-12/31/10, $72,750. PI: Hope Northrup, MD.

28. M.D. Anderson Cancer Center. “Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex & Neurofibromatosis 1.” 1/1/2010 – 1/30/2011, $20, 000. PI: Mary Kay Koenig, MD, coI: Hope Northrup, MD

29. Society for Pediatric Dermatology. “Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex & Neurofibromatosis 1.” 1/1/2010 – 1/30/2011, $6, 000. PI: Mary Kay Koenig, MD, coI: Hope Northrup, MD

12

30. Department of Pediatrics. “Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex & Neurofibromatosis 1.” 1/1/2010 – 1/30/2011, $5, 000. PI: Mary Kay Koenig, MD, coI: Hope Northrup, MD

31. Tuberous Sclerosis Alliance, Rothberg Courage Award, “Identifying Additional Gene(s) that

Cause Tuberous Sclerosis Complex by Whole Exome Sequencing.” 3/1/11-07/31/12, $143,517. PI: Hope Northrup, MD

32. Biomarin Pharmaceutical Inc. “Bone Mineral Density in Adults with Hyperphenylalaninemia.”

4/1/11-12/31/13, $56,781. CoI: Hope Northrup, MD

33. Biomarin Pharmaceutical Inc. “The Effects of Kuvan on Bone Mineral Density in Adults with Hyperphenylalaninemia.” 4/1/11-12/13/13. $39,966. CoI: Hope Northrup, MD

34. Texas Department of State Health Services, “SHS-Genetics Awareness Campaign.” 6/1/14-8/31/14. $115,000. PI: Hope Northrup, MD

35. Department of Defense (DOD) Tuberous Sclerosis Research Program (TSCRP) of the Office of

the Congressionally Directed Medical Research Programs, “Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex, A Multi-center Randomized Control Trial”. 9/30/11-8/31/14. $1.2 million PI: Mary Kay Koenig, MD, coI: Hope Northrup, MD

36. NIH P20 in response to RFA-NS-12-006, “Identification of potential EEG biomarkers and

antiepileptogenic treatment strategies for epilepsy in TSC”. 07/01/12-06/30/15 (no cost extension to 6/30/2016), PI: Bebin (University of Alabama at Birmingham School of Medicine), Site-PI: Northrup MD

37. Biomarin Pharmaceutical Inc. “PEG-PAL”. 7/1/13-3/31/16. CoI: Hope Northrup, MD

Sponsor: 1. National Tuberous Sclerosis Association, “Cloning of the Tuberous Sclerosis Gene on

Chromosome 9q”. 7/1/93-6/30/94, $25,000. (Salary for Kit-Sing Au, PhD), Sponsor: Hope Northrup, MD

2. National Tuberous Sclerosis Association, “Analysis of Tuberin Protein Structure and

Function”. Postdoctoral Fellowship Award. 12/1/94-11/30/95, $25,000. P.I.: Joseph Rodriguez, PhD Sponsor: Hope Northrup, MD

3. National Tuberous Sclerosis Association, “Analysis of Tuberin Protein Structure and

Function”. Postdoctoral Fellowship Award Renewal. 12/1/95-11/30/96, $25,000. P.I.: Joseph Rodriguez, PhD Sponsor: Hope Northrup, MD

13

4. University of Texas Houston Graduate School of Biomedical Sciences, “Schissler Foundation Fellowship”. 9/1/97-8/31/98, $15,000. Student: Kelly A. Volcik. Sponsor: Hope Northrup, MD

5. M.D. Anderson Cancer Center Prevention Education and Teaching Program Fellowship.

9/1/98-11/30/98, $3,650. Student: Michelle N. Strecker. Sponsor: Hope Northrup, MD PUBLICATIONS A. ABSTRACTS-all presented at meeting as either poster or platform 1. Martin AO, Northrup H, Ledbetter DH, Trask B, van den Engh G, Gray JW, Booth C:

Prenatal diagnosis of 46,XY, rec(5), dup q, inv(5)(p13q33) using DNA-analysis and flow cytometry to supplement classical cytogenetic analysis. Am J Hum Genet 41:A131, 1987.

2. Northrup H, Beaudet AL, O’Brien WE: Prenatal diagnosis of citrullinemia using restriction

fragment length polymorphisms from within the argininosuccinate synthetase (AS) gene. Am J Hum Genet 43:A242, 1988.

3. Northrup H, Daiger SP, O’Brien WE, Beaudet AL: Linkage studies for tuberous sclerosis.

Human Genetics Society of Australia XIII Annual Scientific Meeting, T27, 1989. 4. Northrup H, Daiger SP: Linkage studies for tuberous sclerosis. Am J Hum Genet 45:A210,

1989. Poster presentation. 40th Annual Meeting, The American Society of Human Genetics, Baltimore, MD, November 1989.

5. Nguyen N-P, Northrup H: Linkage of tuberous sclerosis to chromosome 11q. 1990 Summer Research Programs for Students, The University of Texas Medical School at Houston, August, 1990.

6. Schneider MC, Hejtmancik JF, Gibson KM, Northrup H: Siblings with 3-methylglutaconic

aciduria presenting at birth. Am J Hum Genet 47:A648, 1990. 7. Northrup H, Wheless JW, Lewis RA, Bertin TK: Monozygotic twins discordant for tuberous

sclerosis. Am J Hum Genet 47:A266, 1990. Poster presentation. 41st Annual Meeting, American Society of Human Genetics, Cincinnati, Ohio, October 1990.

8. Janssen LAJ, Povey S, Attwood J, Sandkuyl LA, Lindout D, Flodman P, Smith M, Sampson

JR, Haines JL, Merkens EC, Fleury P, Northrup H, Amos J, Short P, Halley DJJ: Linkage heterogeneity in tuberous sclerosis: a collaborative study. Am J Hum Genet 47:A723, 1990.

9. Lichorad A, Northrup H: Linkage studies in tuberous sclerosis using the polymerase chain

reaction. The University of Texas Medical School at Houston, August, 1991.

14

10. Tuberous Sclerosis Collaborative Group. Mapping studies in tuberous sclerosis: a collaborative effort. Human Gene Mapping 11, 1991.

11. Northrup H, Kwiatkowski DJ, Rodriguez Jr. E, Roach ES, Dobyns WB, Lewis RA, Blanton

SH: Linkage studies in tuberous sclerosis using GT repeat polymorphisms. Am J Hum Genet, Supplement 49:1981, 1991. Poster presentation at 8th International Congress , Washington, D.C., October 1991.

12. Northrup H, Rodriguez Jr. E, Au K-S, Blanton SH: Linkage studies for the TSC-1 locus on

chromosome 9q32-q34. 1st International Chromosome 9 Workshop, Cambridge, England, March 1992. Poster presentation.

13. Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJM, Short MP, Dumars K, Roach ES,

Steingold S, Wall S, Blanton SH, Flodman P, Kwiatkowski DJ, Jewell A, Weber JL, Roses AD, Pericak-Vance MA: Linkage of a major gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Am J Hum Genet 51(4):A4, 1992.

14. Northrup H, Roach ES, Lewis RA, Rodriguez Jr. E, Dobyns WB, Reeders ST, Blanton SH:

Linkage studies of tuberous sclerosis complex (TSC) to markers on chromosome 16p13.3. Am J Hum Genet 51(4):A197, 1992. Poster presentation. 42nd Annual Meeting of the American Society of Human Genetics, San Francisco, CA, November 1992.

15. Nachajski PJ, Elder FFB, Siciliano MJ, Fenwick R, Schwartz S, Harrison WR, Northrup H:

Study of a child with mosaic karyotype 47,XX,+mar 1 / 48,XX,+mar 1,+mar 2. Am J Hum Genet 51(4):A294, 1992.

16. Au K-S, Blanton SH, Kwiatkowski DJ, Northrup H: Further narrowing of the region on

chromosome 9q34 containing the TSC gene. 2nd International Chromosome 9 Workshop, Cape Cod, MA, 1993.

17. Au K-S, Northrup H: Displacement loop triplex affinity capture of sequence-specific high

molecular weight (HMW) DNA for YAC cloning. Am J Hum Genet 53(3):1267, 1993. Poster presentation. 43rd Annual Meeting of the American Society of Human Genetics, New Orleans, LA, October 1993.

18. Mastrobattista JM, Hecht JT, Stein JD, Blanton SH, Northrup H: Evaluation of candidate

genes for familial brachydactyly. The Society of Gynecologic Investigation Annual Meeting, March 1994.

19. Northrup H, Greenspan DS, Blanton SH: Collagen 5A1: Finer mapping and elimination as a

candidate gene for TSC1. 3rd International Chromosome 9 Workshop, Cambridge, England, April 1994. Poster presentation.

15

20. Northrup H, Rodriguez JA, Au K-S, Rodriguez Jr. E: Mutations and a polymorphism in the tuberin gene. American Society of Human Genetics 44th Annual Meeting, Montreal, Canada, A233; October 1994. Poster presentation.

21. Etzel FK, Delgado MR, Roach ES, Johnston DA, Northrup H: A survey of clinical findings of

cases of tuberous sclerosis complex. National Tuberous Sclerosis Association 20th Anniversary Symposium, Washington, D.C., Pg. 98; October, 1994. Poster presentation.

22. Northrup H, Mastrobattista JM, Dobyns WB, Blanton SH: Exclusion of cobblestone

lissencephaly only (CLO) syndrome from chromosome 9q31-32. 4th International Chromosome 9 Workshop, Colonial Williamsburg, VA; April 1995. Poster presentation.

23. Finch J, Northrup H: A new mutation resulting in tuberous sclerosis complex. Student

Research Abstracts, University of Texas - Houston, Summer Research Program, Houston, TX, 1995.

24. Au K-S, Roach ES, Northrup H: Mutations of the tuberous sclerosis complex 2 (TSC2) gene

in an isolated angiomyolipoma. American Society of Human Genetics 45th Annual Meeting, Minneapolis, MN, 1995. Poster presentation.

25. Dobyns WB, Patton MA, Stratton RF, Mastrobattista JM, Blanton SH, Northrup H:

Cobblestone lissencephaly only (CLO) syndrome: exclusion from chromosome 9q31-32. American Society of Human Genetics 45th Annual Meeting, Minneapolis, MN, 1995.

26. Yetman RJ, Northrup H, Portman R, Andrews-Casal ML, Dominguez B: Blood pressure (BP)

patterns in patients with glycogen storage disease (GSD). New York Academy of Sciences Time Dependent Structure and Control of Arterial Blood Pressure, Ferrara, Italy, 1995.

27. Shapira SK, Northrup H, Elder FFB, Greenberg F, Shaffer LG: Seven patients with deletion

of chromosome 1p36: clinical, cytogenetic, and molecular investigations. 3rd Joint Clinical Genetics Meeting of the March of Dimes and the American College of Medical Genetics, San Antonio, TX, 1996.

28. Lochmiller CL, Northrup H, Harrison WR, Elder FFB: Duplication of the Miller-Dieker gene

region, 17p13.3,results in dysmorphic features, mild mental retardation, and a distal neuropathy. Texas Genetics Society 23rd Annual Meeting, Austin, TX, 1996.

29. Northrup H, Au K-S, Roach ES, Delgado MR, Rodriguez Jr. E, Rodriguez JA: TSC2

mutational analysis in a cohort of 90 probands. TSC International Research Symposium, Bath, UK, 1996.

30. Northrup H, Rodriguez Jr. E, Au K-S, Blanton SH, Dobyns WB: Linkage studies of Walker-

Warburg syndrome (WWS) and chromosome 9q31-32. 5th International Chromosome 9 Workshop, Oxford, UK; September 1996. Poster presentation.

16

31. Etzel FK, Northrup H: TSC2: a novel locus involved in uterine leiomyomata formation. Student Research Abstracts, University of Texas - Houston, Summer Research Program, Houston, TX, 1996.

32. Shapira SK, McCaskill C, Northrup H, Elder FFB, Greenberg F, Shaffer LG: Eight patients

with deletion of chromosome 1p36: clinical, cytogenetic, and molecular investigations. 46th Annual Meeting of the American Society of Human Genetics, San Francisco, CA, October, 1996.

33. Rodriguez JA, Au K-S, Rodriguez Jr. E, Roach ES, Delgado MR, Northrup H: Mutations in

the TSC2 gene in patients with tuberous sclerosis complex. 46th Annual Meeting of the American Society of Human Genetics, San Francisco, CA, October, 1996. Poster presentation.

34. Zartman PA, Johnston DA, Northrup H: Epidemiologic risk factors associated with spina

bifida in a Hispanic population. 46th Annual Meeting of the American Society of Human Genetics, San Francisco, CA, October, 1996.

35. Romaine NK, Johnston DA, Northrup H: A genetic and environmental study of spina bifida

by the multisite closure model. 47th Annual Meeting of the American Society of Human Genetics, Baltimore, MD, October, 1997. Senior Author, Poster presentation by Noelle Romaine, GC Master’s student.

36. Robbins-Furman P, Elder FFB, Mastrobattista JM, Northrup H, Shapira SK: Prenatal

diagnosis of deletion 1p36 syndrome. 47th Annual Meeting of the American Society of Human Genetics, Baltimore, MD, October, 1997.

37. Au K-S, Roach ES, Northrup H: A severe renal phenotype resulting from a TSC2 mutation

without involvement of the PKD1 gene. 47th Annual Meeting of the American Society of Human Genetics, Baltimore, MD, October, 1997. Senior Author, Poster presentation.

38. Rose VM, Prashner HR, Au K-S, Northrup H: Gonadal mosaicism in tuberous sclerosis. 47th

Annual Meeting of the American Society of Human Genetics, Baltimore, MD, October, 1997. Senior Author, Platform presentation by Dr. Verna Rose (Genetics Fellow).

39. Volcik KA, Tyerman G, Jong ST, Rott EJ, Blanton SH, Northrup H: Analysis of the C677T

mutation of the MTHFR gene as a risk factor for spina bifida in Hispanics. 48th Annual Meeting of the American Society of Human Genetics, Denver, CO, October, 1998.

40. Au K-S, Pollom GJ, Roach ES, Delgado MR, Northrup H: TSC1 and TSC2 gene mutations:

detection and genotype/phenotype correlation. 48th Annual Meeting of the American Society of Human Genetics, Denver, CO, October 1998.

41. Enciso V, Robbins-Furman F, Agan N, Northrup H, Elder FFB, Shaffer LG, Shapira SK:

Chromosome deletions of 1p36 associated with prenatal elevations of maternal serum AFP. 48th Annual Meeting of the American Society of Human Genetics, Denver, CO, October 1998.

17

42. Chenevert SM, Northrup H, Tucker AJ: Typical Hispanic population with nontraditional

barriers. 49th Annual Meeting of the American Society of Human Genetics, San Francisco, CA, October 1999. Poster presentation.

43. Strecker MN, Tucker AJ, Bondy ML, Johnston DA, Northrup H: Knowledge and attitudes of

Hispanic women and their health care providers about breast cancer. 49th Annual Meeting of the American Society of Human Genetics, San Francisco, CA, October 1999. Poster presentation.

44. Volcik KA, Blanton SH, Tyerman GH, Jong ST, Rott EJ, Mier RJ, Romaine NK, Northrup H:

Analysis of the C677T and A1298C mutations of the MTHFR gene as risk factors for spina bifida. 49TH Annual Meeting of the American Society of Human Genetics, San Francisco, CA, October 1999. Poster presentation.

45. Volcik KA, Blanton SH, Tyerman GH, Northrup H: Testing for genetic associations of the

PAX genes in a spina bifida population. 50th Annual Meeting of the American Society of Human Genetics, Philadelphia, PA, October 2000. Poster presentation.

46. Plotner PL, Iannaccone ST, Mills JK, Blanton SH, Northrup H: X-linked cerebellar atrophy

and mental retardation: a new syndrome. 50th Annual Meeting of the American Society of Human Genetics, Philadelphia, PA, October 2000. Poster presentation.

47. Chenevert SM, Johnston D, Mahoney D, Elder F, Northrup H, Cooley L: Identification of new

chromosomal aberrations as prognostic indicators for pediatric acute lymphoblastic leukemia. 50th Annual Meeting of the American Society of Human Genetics, Philadelphia, PA, October 2000.

48. Clark-Gay B, Tucker AJ, Assel MA, Johnston DA, Au K-S, Northrup H: Psychosocial impact

of genetic testing for tuberous sclerosis complex (TSC). 51st Annual Meeting of the American Society of Human Genetics, San Diego, CA, October 2001. Poster presentation.

49. Plotner PL, Northrup H: Argininemia: A prospective study and two cases. 51st Annual Meeting of the American Society of Human Genetics, San Diego, CA, October 2001. Poster presentation.

50. Au K-S, Volcik KA, Featherston S, Northrup H: The low activity H1 haplotype of PDGFRA

P1 promoter may predispose to spina bifida in individuals of Mexican descent. 51st Annual Meeting of the American Society of Human Genetics, San Diego, CA, October 2001. Poster presentation.

51. Tucker AJ, Northrup H, Ohl CJ, Roach ES, Sparagana SP, Delgado MR, Batchelor LL, Au K-

S: Patients definitively diagnosed with TSC yield a higher mutation detection rate. 51st Annual Meeting of the American Society of Human Genetics, San Diego, CA, October 2001. Poster presentation.

18

52. Williams AJ, Bishop MW, Au K-S, Northrup H: Mutation detection rates and organ system

involvement in tuberous sclerosis complex. Am J Hum Genet 71(4):A345, 2002. Poster presentation, 52nd Annual Meeting of the American Society of Human Genetics, Baltimore, MD, October 2002.

53. Au K-S, Tucker Williams A, Bishop MW, Northrup H: Comparison of direct sequencing to

other mutation detection methods for the TSC1 and TSC2 genes. Am J Hum Genet 71(4):A385, 2002. Poster presentation, 52nd Annual Meeting of the American Society of Human Genetics, Baltimore, MD, October 2002.

54. Kirkpatrick TJ, Au K-S, Tran PX, Bassett S, Blanton SH, Northrup H: Candidate gene studies

for linkage and genetic association to spina bifida in Hispanic and non-Hispanic white populations in North America. Am J Hum Genet 71(4):A496, 2002. Poster presentation, 52nd Annual Meeting of the American Society of Human Genetics, Baltimore, MD, October 2002.

55. Valentine LI, Kirkpatrick TJ, Au K-S, Rose VM, Brosnan PG, Dominguez BW, Johnston DA,

Northrup H: Genotype/phenotype correlations in X-linked hypophosphatemic rickets. Am J Hum Genet 71(4):A535, 2002. Poster presentation 52nd Annual Meeting of the American Society of Human Genetics, Baltimore, MD, October 2002.

56. Williams AT, Au K-S, Roa B, Northrup H: Pseudo-clinical DNA testing for tuberous

sclerosis complex: turning research generated DNA testing results into clinical ones. National Society of Genetic Counselors, Phoenix, AZ, November 2002.

57. Seifert J, Northrup H, Johnston DA, Williams AT: An assessment of understanding in genetic

counseling Hispanic patients. National Society of Genetic Counselors, Phoenix, AZ, November 2002.

58. Williams AT, Northrup H, Au K-S, Boa BB: Genetic heterogeneity in a tuberous sclerosis

family: implications for genetic counseling. 53rd Annual Meeting of the American Society of Human Genetics. Los Angeles, CA, November 2003. Poster presentation.

59. Au K-S, Wilson CM, Williams AT, Johnson DA, Assel MA, Northrup H:

Genotype/phenotype correlations in familial tuberous sclerosis cases. 53rd Annual Meeting of the American Society of Human Genetics. Los Angeles, CA, November 2003. Poster presentation.

60. Ward CH, Northrup H, Williams AT, Au K-S: Are the 5-hydroxytryptamine (5-HT) Receptor Genes HTR2B and HTR2C (Serotonin Receptor 2B and 2C) Modifier Genes for the Neurological Phenotype in Tuberous Sclerosis Complex? 54th Annual Meeting of the American Society of Human Genetics. Toronto, Canada, October 2004.

19

61. Williams A, Au K-S, Northrup H: Further Delineation of Genotype-Phenotype Correlations in Tuberous Sclerosis Complex. 54th Annual Meeting of the American Society of Human Genetics. Toronto, Canada, October 2004. Platform Presentation.

62. Au K-S, Zhu R, Northrup H: Activation of Phospholipase D in Angiomyolipomas from

Tuberous Sclerosis Complex (TSC) Patients. 54th Annual Meeting of the American Society of Human Genetics. Toronto, Canada, October 2004. Poster Presentation.

63. K.S. Au, M.R. Dewhurst, T.J. Kirkpatrick, A.J. Jordan, J.M. Fletcher, I.T. Townsend, G.B.

Villarreal, G.H. Tyerman, S.M. Jane, S.B. Ting, T.M. King, H. Northrup. Association of a Putative Mouse Model Candidate Gene, GRHL3, with Spina Bifida Meningomyelocele. Neural Tube Defects 2005 and Beyond. Indian Wells, California, September 2005.

64. T.M. King, K.S. Au, T.J. Kirkpatrick, J.M. Fletcher, K. Copeland, D. Francis, I. Townsend, G.

Villarreal, G.H. Tyerman, H. Northrup. BRCA1 mutations show association with lesion location in spina bifida patients. Neural Tube Defects 2005 and Beyond. Indian Wells, California, September 2005.

65. M.R. Dewhurst, K.S. Au, T.M. King, J.M. Fletcher, I.T. Townsend, G.B. Villarreal, G.H.

Tyerman, H. Northrup. Testing and analysis of folate metabolism candidate genes for association with spina bifida meningomyelocele. Neural Tube Defects 2005 and Beyond. Indian Wells, California, September 2005.

66. B. Nowakowska, A Kutkowska-Kazmierczak, S. J. Noblin, Y.F. Li, H. Northrup, D. Corzo,

A. Weise, A. Patel, E. Bocian, S.W. Cheung, W.-W. Cai: Detection of cryptic chromosomal alterations By genome-wide array comparative genomic hybridization (array-CGH) with 21,600 BAC clones. 55th Annual Meeting of the American Society of Human Genetics. Salt Lake City, Utah, October 2005. Poster Presentation.

67. T.M. King, K.S. Au, T.J. Kirkpatrick, J. M. Fletcher, K. Copeland, D. Francis, I. Townsend, G.

Villareal, G.H. Tyerman, H. Northrup: BRCA1 mutations show association with lesion location in spina bifida. 55th Annual Meeting of the American Society of Human Genetics. Salt Lake City, Utah, October 2005. Poster Presentation.

68. M.R. Dewhurst, K.-S. Au, T.M. King, J.M. Fletcher, I.T. Townsend, G.B. Villareal, G.H.

Tyerman, H. Northrup: Testing and analysis of folate metabolism candidate genes for association with spina bifida meningomyelocele. 55th Annual Meeting of the American Society of Human Genetics. Salt Lake City, Utah, October 2005. Poster Presentation.

69. P. Kozlowski, P.S. Roberts, S. Dabora, D. Franz, J. Bissler, H. Northrup, K-S. Au, S.

Jozwiak, D.J. Kwiatkowski: Comprehensive analysis for large deletions in TSC1 and TSC2 in TSC patients: frequency, utility and reliability of MLPA, and genotype-phenotype correlations. 56th Annual Meeting of the American Society of Human Genetics. New Orleans, Louisiana, October 2006. Poster Presentation.

20

70. Davidson CM, Northrup H, King TM, Fletcher JM, Townsend IT, Tyerman GH, Au KS. Genes in glucose metabolism and their association with spina bifida. 27th Annual Meeting of the Society for Maternal-Fetal Medicine: The Pregnancy Meeting American Journal of Obstetrics & Gynecology 2006 Dec., 195 (6) Supplement: S14. Chosen for platform presentation and presented by Dr. Davidson in San Francisco, CA, February 5-10, 2007 at the meeting.

71. M.R. O’Byrne, K.S. Au, C.C. Tsai, J.M. Fletcher, I.T. Townsend, G.H. Tyerman, T.M. King,

H. Northrup. SNP genotypes of GRHL3 and spina bifida meningomyclocele. 5th International Neural Tube Defects Conference. Asilomar, California, September 2007.

72. T.M. King, C.M. Sullivan, C.M. Davidson, J.M. Fletcher, D. Francis, A.M. Walker, K.

Stuebing, G. Cote, C. Singletary, K.S. Au, H. Northrup. The impact of genes in glucose metabolism on rostral lesion location in patients with spina bifida meningomylelocele. 5th International Neural Tube Defects Conference. Asilomar, California, September 2007. Oral Platform Presentation.

73. T.M. King, C.M. Sullivan, C.M. Davidson, J.M. Fletcher, D.J. Francis, A.M. Walker, K.K.

Stuebing, G.J. Cote, C.N. Singletary, K.S. Au, H. Northrup. The Impact of glucose metabolism genes on the location of the rostral edge of spinal lesion in patients with spina bifida meningmylelocele. 57th Annual Meeting of the American Society of Human Genetics. San Diego, California, October 2007. Poster Presentation.

74. K.S. Au, M.R. Dewhurst, C.C-D. Tsai, J.M. Fletcher, G.H. Tyerman, T.M. King, H. Northrup.

Assessing the transcription factor gene grainy-head like 3 (GRHL3) as a candidate for causation of spina bifida meningomyelocele. . 57th Annual Meeting of the American Society of Human Genetics. San Diego, California, October 2007.

75. Martinez CA, Northrup H, Lin JI, Morrison A, Fletcher JM, Tyerman G, Au KS. Results of a

Genetic Association Study of Genes in Folate Metabolism and Spina Bifida. 29th Annual meeting of the Society of Maternal Fetal Medicine Annual Meeting, San Diego, CA, January 26-31, 2008. Am J Obstet Gynecol 2008;199: S167. Chosen for poster presentation and given by Dr. Martinez.

76. O’Byrne MR, Au KS, Northrup H. Association of folate metabolic pathway genes with

human spina bifida meningomyelocele. First World Congress on Spina Bifida Research and Care, Orlando, FL, March 15-18, 2009.

77. Au KS, Weymouth KS, Davidson CM, Morrison AC, Lin J-I, Fletcher JM, Ostermaier KK,

Tyerman GH, Doebel S, Northrup H. Glucose metabolism Genes Associate with Spina Bifida Risk. Sixth International NTD Conferences, Burlington, VT, USA. September 12-15, 2009.

78. Morrison AC, Lin J-I, Au KS, Weymouth KS, Martinez CA, Cirino PT, Fletcher JM,

Ostermaier KK, Doebel S, Dennis M, Northrup H. Folate and glucose metabolism Genes

21

Associate with attention-deficit/hyperactivity disorder risk in patients with Spina Bifida. Sixth International NTD Conferences, Burlington, VT, USA. September 12-15, 2009

79. Northrup H, Martinez CA, O'Byrne MR, Lin J-I, Morrison AC, Fletcher JM, Ostermaier KK,

Tyerman GH, Doebel S, Au KS. Genetic Association Study of Putative Functional Single Nucleotide Polymorphisms of Genes in Folate Metabolism and Spina Bifida. Sixth International NTD Conferences, Burlington, VT, USA. September 12-15, 2009.

80. Au KS, Weymouth KS, Davidson CM, Morrison AC, Lin J-I, Fletcher JM, Ostermaier KK,

Tyerman GH, Doebel S, Northrup H. “Glucose homeostasis Genes and Spina Bifida Risk.” The American Society of Human Genetics 59th Annual Meeting, Honolulu, HI, October 2009. Poster presentation.

81. Morrison AC, Lin J-I, Au KS, Weymouth KS, Martinez CA, Cirino PT, Fletcher JM,

Ostermaier KK, Doebel S, Dennis M, Northrup H. “Genes in Folate and Glucose Metabolism Associate with Attention-Deficit/Hyperactivity Disorder Risk in Patients with Spina Bifida.” The American Society of Human Genetics 59th Annual Meeting, Honolulu, HI, October 2009. Poster presentation.

82. Northrup H, Martinez CA, O'Byrne MR, Lin J-I, Morrison AC, Fletcher JM, Ostermaier KK,

Tyerman GH, Doebel S, Au KS. “Single Nucleotide Polymorphisms of Genes in Folate Metabolism Associate with Spina Bifida.” The American Society of Human Genetics 59th Annual Meeting, Honolulu, HI, October 2009. Poster presentation.

83. Cormier C, Northrup H, Au KS. Genetic variation in the GLUT1 gene of patients affected

with meningomyelocele. SMFM 30th Annual Scientific Meeting, Chicago, IL. Abstract # 0711, 2010.

84. Tilley MM, Northrup H, Au KS. Genetic associations of the cystathionine beta-synthase gene

and spina bifida. Pediatric Academic Societies Annual Meeting Vancouver, BC Canada, May 1-4, 2010.

85. Tilley MM, Northrup H, Au KS. Genetic association of the cystathionine beta-synthase gene and meningomyelocele. American Association of Pediatrics South Central Conference - October 26-28, 2010, Austin, TX. (slide presentation)

86. Tilley MM, Northrup H, Au KS. Genetic Associated of the Cystathionine Beta-Synthase Gene and Meningomyelocele. November 13, 2010: American Academy of Pediatrics Perinatal Section Perinatal Symposium in Marco Island, Florida, November 13, 2010. (Poster presentation)

87. Aneji CU, Northrup H, Au KS. An association study MTHFR gene sequences variants to

spina bifida. American Association of Pediatrics South Central Conference - October 26-28, 2010. Austin, TX. Oral Platform Presentation.

22

88. Au K.S., Northrup H. Association of Superoxide Dismutase Genes with Myelomeningocele. The Seventh International Conference on Neural Tube Defects, Austin, TX, USA. Nov 6-9, 2011. Oral Platform Presentation.

89. Spellicy C., Northrup H., Au K.S. Functional Characterization of Grainyhead-like 3 Proteins

in Human Cells. The Seventh International Conference on Neural Tube Defects, Austin, TX, USA. Nov 6-9, 2011. Oral Platform Presentation.

90. Ruggiero J, Au KS, Northrup H. Genetic Association of Glucose Transporter Genes and

Spina Bifida. American Academy of Pediatrics Perinatal Section 19th South Central Conference on Perinatal Research; Austin, Texas. October 28-30, 2012.

91. Kase BA, Northrup H, Au KS. Novel Single Nucleotide Polymorphisms in the Superoxide Dismutase 1 (SOD1) and 2 (SOD2) Genes Among Patients with Non-syndromic Myelomeningocele. Society for Maternal Fetal Medicine, 33rd Annual Meeting, San Francisco, CA, February, 11-16th, 2013.

92. Connealy B, Northrup H, Au KS. Genetic Variations in the GLUT3 Gene Associate with Myelomeningocele. The Eighth International Conference on Neural Tube Defects, Austin, TX, USA. Oct7-10, 2013. Oral Platform Presentation.

93. Connealy B, Northrup H, Au KS. Genetic Variations in the GLUT3 Gene Associate with

Myelomeningocele. The 34th Society for Maternal-Fetal Medicine Annual Meeting, Hilton New Orleans Riverside, New Orleans, LA. Feb 3-8, 2014. Oral Plenary Platform Presentation.

94. Ruggiero J, Northrup H, Au KS. Genetic Association of Glucose Transporter Genes and

Myelomeningocele. The 19th South Central Conference on Perinatal Research, Lakeway Resort, Austin, Texas USA. Oct 28-30, 2012. Oral Platform Presentation.

95. Ruggiero J, Au KS, Northrup H. Genetic Association of Glucose Transporter Genes and

Myelomeningocele. The Eighth International Conference on Neural Tube Defects, Austin, TX, USA. Oct7-10, 2013. Oral Platform Presentation.

96. Ruggiero J, Au KS, Northrup H. Genetic Association of Glucose Transporter Genes and Myelomeningocele. The 83rd Perinatal & Development Medicine Symposium-Developmental Programming of Adult Disease, Nov. 6-9, 3013. Marco Island, Florida USA. Oral Platform Presentation.


Myelomeningocele. American Academy of Pediatrics Perinatal 20th Section South Central Conference on Perinatal Research, Lakeway Resort, Austin Texas. October 29-31, 2013. Oral Platform Presentation.

23

98. Tenpenny J, Au KS, Northrup H. Genetic Association of Folate Receptor Genes (FOLR2, FOLR3) and Spina Bifida. The Eighth International Conference on Neural Tube Defects, Austin, TX, USA. Oct7-10, 2013. Oral Platform Presentation.

99. Tenpenny J, Northrup H, Au KS. Genetic Association of Folate Receptor Genes (FOLR2, FOLR3) and Spina Bifida. American Academy of Pediatrics Perinatal 20th Section South Central Conference on Perinatal Research, Lakeway Resort, Austin Texas. October 29-31, 2013. Oral Platform Presentation.


Myelomeningocele. American Federation for Medical Research and Southern Society for Pediatric Research Southern Regional Meeting, New Orleans, LA. Feb 20-22, 2014. Oral Platform Presentation.

101. Tenpenny J, Northrup H, Au KS. Genetic Association of Folate Receptor Genes (FOLR2,

FOLR3) and Spina Bifida. American Federation for Medical Research and Southern Society for Pediatric Research Southern Regional Meeting, New Orleans, LA. Feb 20-22, 2014. Oral Platform Presentation.

102. Connealy B, Northrup H, Au KS. Genetic Variations in the GLUT3 Gene Associate with

Myelomeningocele. The 34th Society for Maternal-Fetal Medicine Annual Meeting, Hilton New Orleans Riverside, New Orleans, LA. Feb 3-8, 2014. Oral Platform Plenary Presentation.

103. Walkiewicz M, Northrup H, Mancias P, Ray JW, Eng C, Yang Y, Xia F, Schaaf C.

MAGEL2 Mutation Associated with Familial Prader-Willi-Like Disorder and Autism. The 2014 ACMG (American College of Medical Genetics) Annual Clinical Meeting, March 25-29, Nashville, TN. Poster presentation.

104. Farach LS, Liu P, Hixson P, Cheung SW, Northrup, H. A Novel Inherited CASK Gene

Duplication in a Male with Cerebellar Hypoplasia and Features of FG Syndrome. The 2014 ACMG (American College of Medical Genetics) Annual Clinical Meeting, March 25-29, Nashville, TN. Poster presentation.

105. Ray JW, Northrup H. Novel Mutation in SLC9A6 Associated with Christianson-Like

Syndrome. The 2014 ACMG (American College of Medical Genetics) Annual Clinical Meeting, March 25-29, Nashville, TN. Poster presentation.

106. Soler-Alfonso C, Bonfante-Mejia E, Saavedra H, Enns G, Koenig MK, Northrup H.

Identification of HIBCH gene Mutations Causing Recessive leigh Syndrome: A Gene Involved in Valine Metabolism. The 2014 ACMG (American College of Medical Genetics) Annual Clinical Meeting, March 25-29, Nashville, TN. Poster presentation.

107. Alcarez W, Walkiewicz M, Lalani S, Schaaf C, Scott D, Northrup H, Eng C, Yang Y. Whole

Exome Sequencing Allows for Early Detection of ANKRD11 Mutations in Patients with

24

Under Recognized KBG Syndrome. The 2014 ACMG (American College of Medical Genetics) Annual Clinical Meeting, March 25-29, Nashville, TN. Poster presentation.


Myelomeningocele. Pediatric Academic Societies, Vancouver, Canada. May 3-6, 2014. Poster. 109. Tenpenny J, Northrup H, Au KS. Genetic Association of Folate Receptor Genes (FOLR2,

FOLR3) and Spina Bifida. Pediatric Academic Societies, Vancouver, Canada. May 3-6, 2014. Poster.

110. Semple JH, Northrup H, Au KS. Examining the Role of the ABAT Gene in Modifying the

Phenotype of Tuberous Sclerosis Complex. 2014 Summer Research Program Research Forum, UTHealth-Medical School. October 21, 2014. Poster presentation.

111. Farach LS, Northrup, H. A Novel de novo KIAA2022 Nonsense Mutation in a Symptomatic

Female. The 2015 ACMG (American College of Medical Genetics) Annual Clinical Meeting, March 24-28, Salt lake City, UT. Poster presentation.

112. Nguyen M, Northrup H, Morrison AC, Cirino P, Fletcher JM, Au KS. Maternal

Micronutrient Intake Mitigates Risk of Myelomeningocele Pregnancy in Women with MTHFR 677T and 1298C Variants. American Academy of Pediatrics Perinatal 22th Section South Central Conference on Perinatal Research, Lakeway Resort, Austin Texas. October 7-9, 2015. Oral Platform Presentation.

113. Nguyen M, Northrup H, Morrison AC, Cirino P, Fletcher JM, Au KS. Maternal

Micronutrient Intake Mitigates Risk of Myelomeningocele Pregnancy in Women with MTHFR 677T and 1298C Variants. The 9th International Neural Tube Defects Conference, Austin, Texas, October 26-29, 2015. Poster Presentation.

114. Findley T, Northrup H, Au KS. Folate Transporter Mutation and Myelomeningocele.

American Academy of Pediatrics Perinatal 22th Section South Central Conference on Perinatal Research, Lakeway Resort, Austin Texas. October 7-9, 2015. Oral Platform Presentation.

115. Findley T, Northrup H, Au KS. Folate Transporter Mutation and Myelomeningocele. The 9th

International Neural Tube Defects Conference, Austin, Texas, October 26-29, 2015. Oral Platform Presentation).

116. Shah R, Northrup H, Au KS. Genetic Association of the Glycine Cleavage System Genes and

Myelomeningocele. American Academy of Pediatrics Perinatal 22th Section South Central Conference on Perinatal Research, Lakeway Resort, Austin Texas. October 7-9, 2015. Oral Platform Presentation.

117. Shah R, Northrup H, Au KS. Genetic Association of the Glycine Cleavage System Genes and

Myelomeningocele. The 9th International Neural Tube Defects Conference, Austin, Texas, October 26-29, 2015. Oral Platform Presentation.

25

118. Baker C, Hillman P, Brown M, Hixson J, Morrison AC, Northrup H, Au KS. Using Whole

Exome Sequencing to Assess Risk fir Variants Involved in Glucose Homeostasis and Myelomeningocele Pathogenesis. 10th International Conference on Neural Tube Defects. Austin, Texas. October 1-4, 2017. Oral Presentation.

119. Chernis J, Hebert L, Northrup H, Au KS, Brown M, Hixson J, Morrison A. Genetic Variants in Retinoic Acid Metabolism and Signaling and Human Myelomeningocele. 10th International Conference on Neural Tube Defects. Austin, Texas. October 1-4, 2017. Oral Presentation.

120. Hillman P, Baker C, Brown M, Hixson J, Morrison A, Northrup H, Au KS. Identifying Genetic Variants in Genes of Folate and One Carbon Metabolism to Assess Risk for Myelomeningocele. 10th International Conference on Neural Tube Defects. Austin, Texas. October 1-4, 2017. Oral Presentation.

121. Au KS, Hixson J, Morrison A, Northrup H. Creating a Myelomeningocele Exome Variant Map-preliminary overview of 500 exomes. 10th International Copnfernce on Neural Tube Defects. Austin, Texas. October 1-4, 2017. Oral Presentation.

B. ARTICLES: 1. Maddock MB, Northrup H, Ellingham TO: Induction of sister-chromatid exchanges and

chromosomal aberrations in hematopoietic tissue of a marine fish following in vivo exposure to genotoxic carcinogens. Mutat Res 172:165-175, 1986.

2. Northrup H, Beaudet AL, O’Brien WE, Herman GE, Lewis RA, Pollack MS: Linkage of

tuberous sclerosis. Lancet 2:804-805, 1987. 3. Martin AO, Northrup H, van den Engh, et al: Prenatal detection of 46,XY,rec(5), dup q,

inv(5)(p13q33) using DNA-analysis, flow cytometry and in-situ hybridization to supplement classical cytogenetic analysis. Am J Med Genet 31:643-654, 1988.

4. Greenberg F, Elder FB, Hafner P, Northrup H, Ledbetter DH: Cytogenetic findings in a

prospective series of patients with DiGeorge anomaly. Am J Hum Genet 43:605-611, 1988. 5. Northrup H, Rosenbloom CL, O’Brien WE, Beaudet AL: Additional polymorphism for D7S8

linked to cystic fibrosis including detection by DNA amplification. Nucleic Acids Res 17:1784, 1989.

6. Northrup H, Lathrop M, Lu S-Y, Daiger SP, Beaudet AL, O’Brien WE: Multilocus linkage

analysis with the human argininosuccinate synthetase gene. Genomics 5:442-444, 1989. 7. Fujimura FK, Northrup H, Beaudet AL, O’Brien WE: Genotyping errors with the polymerase

chain reaction. NEJM 322:61, 1990.

26

8. Northrup H, Beaudet AL, O’Brien WE: Prenatal diagnosis of citrullinemia: review of a ten

year experience including recent use of DNA analysis. Prenat Diagn 10:771-779, 1990. 9. Tuberous Sclerosis Collaborative Group (alphabetically): Amos J, Atwood J, Bech-Hansen T,

Burley M, Conneally PM, Connor JM, Fashold R, Flodman P, Fryer A, Haines J, Halley D, Jewell A, Janssen L, Kandt R, Northrup H, Osborne J, Pericak-Vance M, Povey S, Sampson J, Short P, Smith M, Speer M, Trofatter J, Yates JRW: Genetic heterogeneity in tuberous sclerosis: study of a large collaborative dataset. IN: Johnson WG and Gomez MR (Eds.) Tuberous sclerosis and allied disorders. Clinical, cellular and molecular studies. New York Academy of Sciences, pp 256-264, 1991.

10. Northrup H, Blanton SH: Linkage studies for markers on 9q to tuberous sclerosis. Annals

New York Acad Sciences 615:384-385, 1991. 11. Fleury P, Janssen B, Merkens C, Sandkuyl L, Lindhout D, Halley D, Sampson J, Connor M,

Smith M, Haines J, Amos J, Kwiatkowski D, Short P, Northrup H, Blanton SH: Linkage heterogeneity in tuberous sclerosis - a collaborative study. Fetal and Perinatal Neurol 16:197-202, 1992.

12. Northrup H, Kwiatkowski DJ, Roach ES, Dobyns WB, Lewis RA, Herman GE. Rodriguez Jr.

E, Daiger SP, Blanton SH: Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. Am J Hum Genet 51(4):709-720, 1992.

13. Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJM, Short MP, Dumars K, Roach ES,

Steingold S, Wall SL, Blanton SH, Flodman P, Kwiatkowski DJ, Jewell A, Weber JL, Roses AD, Pericak-Vance MA: Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nature Genet 2(1):37-41, 1992.

14. Kitagawa S, Gleason Jr. WA, Northrup H, Middlebrook MR, Ueberschar E: Symptomatic

hyperammonemia due to a congenital portal systemic shunt. J Pediatr 121(6):917-919, 1992. 15. Northrup H, Wheless JW, Bertin TK, Lewis RA: Variability of expression in tuberous

sclerosis. J Med Genet 30:101-103, 1993. 16. Northrup H, Hebert AA, Sigman ES: Exfoliative erythroderma resulting form inadequate

intake of branched chain amino acids in infants with maple syrup urine disease. Archives of Dermatology 129:384-385, 1993.

17. Attwood J, Chiano M, Collins A, Donis-Keller H, Dracopoli N, Fountain J, Goudie D, Gusells

J, Haines J, Armour JAL, Jeffreys AJ, Kwiatkowski DJ, Lathrop M, Matise T, Northrup H, Pericak-Vance MA, Phillips J, Retief A, Robson E, Shields D, Slaugenhaupt S, Vergnaud G, Weber J, Weissenbach J, White R, Yates J, Povey S: CEPH Consortium map of chromosome 9. Genomics 19:203-214, 1994.

27

18. Greenspan DS, Northrup H, Papenberg KA, Au K-S, Francomano CA, Wenstrup RJ, Marchuk DA, Kwiatkowski DJ: CO15A1: Fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II. Genomics 25(3):737-739, 1995.

19. Mastrobattista JM, Rodriguez Jr. E, Blanton SH, Northrup H: Evaluation of candidate genes

for familial brachydactyly. J Med Genet 32:851-854, 1995. 20. Hou J, Parrish J, Ludecke HJ, Sapru M, Wang Y, Chen W, Siegel-Bartelt J, Northrup H, Elder

FFB, Chinault C, Horsthemke B, Wagner MJ, Wells DS: Refining the location of the trichohinophalangeal syndrome and multiple exostoses genes on a 4 megabase YAC contig that spans the Langer-Gideon syndrome region on human chromosome 8q224.1. Genomics 28:87-97, 1995.

21. Dobyns WB, Patton MA, Stratton RF, Blanton SH, Mastrobattista JM, Northrup H:

Cobblestone lissencephaly without eye or muscle abnormalities. Neuropediatrics 27:70-75, 1996.

22. Au K-S, Murrell J, Buckler A, Blanton SH, Northrup H: report of a critical recombination

further narrowing the TSC1 region. J Med Genet 33(7):559-561, 1996. 23. McKenney RR, Elder FFB, Garcia J, Northrup H: Brachmann-de Lange syndrome: autosomal

dominant inheritance and male-to-male transmission. Am J Med Genet 66:449-452, 1996. 24. Au K-S, Rodriguez JA, Rodriguez Jr. E, Dobyns WB, Delgado MR, Northrup H: Mutations

and polymorphisms in the TSC2 gene. Human Mutation 9:23-29, 1997. 25. Rodriguez JA, Evans RL, Daiger SP, Northrup H: Molecular analysis of the human vitamin-D

binding protein (group-specific component, GC) in tuberous sclerosis complex (TSC). J Med Genet 34:509-511, 1997.

26. Shapira SK, McCaskill C, Spikes AS, Northrup H, Elder FFB, Sutton R, Korenberg JR,

Greenberg F, Shaffer LG: Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly-delineated syndrome. Am J Hum Genet 61(3):642-650, 1997.

27. Au K-S, Rodriguez JA, Finch JL, Volcik KA, Roach ES, Delgado MR, Rodriguez Jr. E,

Northrup H: Germline mutational analysis of the TSC2 gene in 90 tuberous sclerosis patients. Am J Hum Genet 62:286-294, 1998.

28. Baumgartner JE, Wheless JW, Kulkarni S, Northrup H, Au K-S, Smith A, Brookshire B: On

the surgical treatment of refractory epilepsy in tuberous sclerosis complex. J Pedi Neurosurgery 27:311-318, 1998.

28

29. Roach ES, Gomez MR, Northrup H: Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurology 13:624-628, 1998.

30. Beauchamp RL, Banwell A, McNamara P, Jacobsen M, Higgins E, Northrup H, Short P, Sims

K, Ozelius L, Ramesh V: Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. Human Mutation 12:408-416, 1998.

31. Rose VM, Au K-S, Pollom G, Roach ES, Prashner HR, Northrup H: Germline mosaicism in

tuberous sclerosis: how common? Am J Hum Genet 64:986-992, 1999. 32. Roach ES, DiMario FJ, Kandt RS, Northrup H: Tuberous sclerosis consensus conference:

recommendations for diagnostic evaluation. J Child Neurology 14(6):401-407, 1999. 33. Au K-S, Hebert AA, Roach ES, Northrup H: Complete inactivation of the TSC2 gene leads to

formation of hamartomas. Am J Hum Genet 65:1790-1795, 1999. 34. Astrinidis A, Khare L, Carsillo T, Smoralek T, Menon A, Au-K-S, Northrup H, Henske EP:

Mutational analysis of the tuberous sclerosis gene TSC2 in DNA from women with pulmonary lymphangiomyomatosis. J Med Genet 37(1):55-57, 2000.

35. Volcik KA, Blanton SH, Tyerman GH, Jong TS, Rott EJ, Page TZ, Romaine NK, Northrup

H: Methylenetetrahydrofolate reductase and spina bifida: an evaluation of level of defect and maternal genotypic risk in Hispanics. Am J Med Genet 95(1):21-27, 2000.

36. Northrup H, Volcik KA: Spina bifida and other neural tube defects. Current Problems in

Pediatrics 30(10):313-340, 2000. 37. Khare L, Strizheva GD, Bailey JN, Au Kit-Sing, Northrup H, Smith M, Smalley SL, Henske

EP: A novel missense mutation in the GTPase activating protein homology region of TSC2 in two extended families with tuberous sclerosis complex. J Med Genet 38(5):357-359, 2001.

38. Sohocki MM, Daiger SP, Bowne SJ, Rodriguez JA, Northrup H, Heckenlively JR, Birch DG,

Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS: Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Human Mutation 17(1):42-51, 2001.

39. Volcik KA, Blanton SH, Northrup H: Examinations of MTHFR C677T and A1298 Mutations

and In Utero Viability. Amer J Hum Genet 69(5):1150-1152, 2001.

40. Arbiser JL, Yeung R, Weiss SW, Arbiser ZK, Amin MB, Cohen C, Frank D, Mahajan S, Herron GS,Yang J, Onda H, Zhang HB, Bai X, Uhlmann E, Loehr A, Northrup H, Au P, Davis I, Fisher DE,Gutmann DH: The generation and characterization of a cell line derived from a sporadic renal angiomyolipoma: use of telomerase to obtain stable populations of cells from benign neoplasms. Am J Pathol 159(2):483-491, 2001.

29

41. Volcik KA, Blanton SH, Kruzel MC, Townsend IT, Tyerman GH, Mier RJ, Northrup H: Testing for genetic association in a spina bifida population: analysis of the HOX gene family and human candidate gene regions implicated in mouse models of neural tube defects. Amer J Med Genet 110:203-207, 2002.

42. Volcik KA, Blanton SH, Kruzel MC, Townsend IT, Tyerman GH, Mier RJ, Northrup H:

Testing for genetic associations to the PAX gene family in a spina bifida population. Amer J Med Genet 110:195- 202, 2002.

43. Yetman RJ, Andrews-Casal M, Hermida RC, Dominguez B, Portman RJ, Northrup H,

Smolensky MH: Circadian pattern of blood pressure, heart rate, and double product in liver glycogen storage disease. Chronobiology International 19(4):765-783, 2002.

44. Plotner PL, Smith JL, Northrup H: Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report

of a new case and review of the literature. Amer J Med Genet 111:71-75, 2002. 45. Strecker MN, Williams AJ, Bondy M, Johnston DA, Northrup H: Knowledge and attitudes of

Hispanic women and their health care providers about breast cancer risk factors and screening. Comm Genet 5:222-231, 2002.

46. Plotner PL, Smith JL, Northrup H: Deletion 12q: a second patient with 12q24.31q24.32

deletion. Amer J Med Genet 118A:350-352, 2003. 47. Kirkpatrick TJ, Au K-S, Mastrobattista JM, McCready ME, Bulman DE, Northrup H:

Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. J Med Genet 40(1):42-44, 2003.

48. Gupta PA, Wallis DD, Chin TO, Northrup H, Tran-Fadulu VT, Towbin JA, Milewicz DM:

FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. J Med Genet, 41(5):e56, 2004.

49. Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ: Heterozygous

deletion of the linked ZIC1 and ZIC4 genes and Dandy-Walker malformation. Nat Genet, 36(10):1053-1055, 2004.

50. Au K-S, Williams AT, Gambello MJ, Northrup H: Molecular genetic basis of tuberous

sclerosis complex: from bench to bedside. J Child Neurol, 19(9):699-709, 2004. 51. Tangjitgamol s, Erlichman J, Northrup H, Malpica A, Wang X, Lee E, Kavanagh JJ: Benign

multicystic peritoneal mesothelioma: case report in a family with diverticulosis and literature review. Int J Gynecologic Cancer Nov-Dec; 15(6):1101-7, 2005.

52. Fletcher JM, Copeland K, Frederick J, Hannay HJ, Brandt ME, Northrup H, Francis DJ,

Villrreal G, Blaser SE, Kramer LA, Drake JM, Laurent J, Townsend I, Boudousquie A, Dennis

30

M: Spinal lesion level in spina bifida meningomyelocele. A source of neural and cognitive heterogeneity. J Neurosurgery (Pediatrics 3)102:268-279, 2005.

53. Eichenmeyer JN, Northrup H, Assel MA, Goka TJ, Johnston DA, Williams AT: An

assessment of risk understanding in Hispanic genetic counseling patients. J Genet Couns Jul; 14(4):3/9-28, 2005.

54. Au K-S, Northrup H, Kirkpatrick TJ, Volcik KA, Fletcher JM, Townsend IT, Blanton SH,

Tyerman GH, Villarreal G, King TM: Promotor genotype of the platelet-derived growth factor receptor-α gene shows population stratification but not association with spina bifida meningomyelocele. Am J Med Genet 139A(3):194-198, 2005.

55. Zhang Y-H, Huang B-L, Jialal I, Northrup H, McCabe ERB, Dipple KM: Asymptomatic

isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense mediated decay or mutant RNAs. 2006 Apr;59(4 Pt 1):590-2.

56. Woerner AC, Au KS, Williams AT, Harris PC, Northrup H: Tuberous sclerosis complex and

polycystic kidney disease: an exception to the contiguous gene syndrome. Genet in Med 2006, 8(3):197-198.

57. Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA,

Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP. Prevalance of disease-causing mutations in families with autosomal dominant retinitis pigmentosa (adRP): a screen of known genes in 200 families. Invest Ophthalmol Vis Sci, Jul;4(7):3052-64, 2006.

58. Kaye CI; Committee on Genetics; Accurso F, La Franchi S, Lane PA, Northrup H, Schaefer

GB. Introduction to the newborn screening fact sheets. Pediatrics Sep; 118(3):1304-12, 2006. 59. Au KS, Williams AT, Roach ES, Batchelor l, Sparagana SP, Delgado MR, Wheless JW,

Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung M-YC, Whittemore VH, King TM, Northrup H. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Gen In Med, Feb; 9(2):88-100, 2007.

60. Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R,

Domanska- Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet. May; 121(3-4):389-400, 2007.

61. Lim SD, William Stallcup W, Lefkove B, Govindarajan B, Au KS, Northrup H, Lang D,

Fisher DE, Patel A, Amin MB, and Arbiser JL. Expression of the Neural Stem Cell Markers NG2 and L1 in Human Angiomyolipoma: Are Angiomyolipomas Neoplasms of Stem Cells? Molecular Medicine March-April 2007.

31

62. King TM, Au KS, Kirkpatrick TJ, Davidson C, Fletcher JM, Townsend I, Tyerman GH, Shimmin LC, Northrup H. The Impact of BRCA1 on Spina Bifida Meningomyelocele Lesions. Ann of Hum Genet. Nov; 71 (Pt 6):719-28, 2007.

63. Davidson CM, Northrup H, King TM, Fletcher JM, Townsend IT, Tyerman GH, Au KS.

Genes in Glucose Metabolism and Association with Spina Bifida. Reproductive Sciences. January, 15(1):51-8, 2008.

64. Au KS, Tran PX, Tsai CC, O'Byrne MR, Lin JI, Morrison AC, Hampson AW, Cirino P,

Fletcher JM, Ostermaier KK, Tyerman GH, Doebel S, Northrup H. Characteristics of a Spina Bifida Population Including North American Caucasian and Hispanic individuals. Birth Defects Res A Clin Mol Teratol. 82(10):692-700c; Oct 2008.

65. Koenig MK, Butler IJ, Northrup H. Regression of Subependymal Giant Cell Astrocytoma

with Rapamycin in Tuberous Sclerosis Complex. J Child Neurol. 23(10):1238-9; Oct 2008. 66. Au KS, Ward CH, Northrup H. Tuberous Sclerosis Complex: Disease Modifiers and

Treatments. Curr Opin Pediatr. 20(6):628-33; Dec 2008. 67. Wells AS, Northrup H, Crandell S, King TM, Champaigne NL, Yafi M, Therrell, BL, Noblin

SJ. Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents. Genet in Med 11(3):1-5, March 2009.

68. Martinez CA, Northrup H, Lin JI, Morrison AC, Fletcher JM, Tyerman GH, Au KS. Genetic

association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Am J Obstet Gynecol. 201(4):394.e1-11, Oct 2009.

69. Ready KJ, Daniels MS, Sun CC, Peterson SK, Northrup H, Lu KH. Obstetrics/Gynecology

Residents' Knowledge of Hereditary Breast and Ovarian Cancer and Lynch Syndrome. J Cancer Educ. Sept 25 (3):401-4, 2010.

70. Au KS, Ashley-Koch A, Northrup H. Epidemiologic and genetic aspects of spina bifida and

other neural tube defects. Dev Disabil Res Rev. ;16(1):6-15, 2010.

71. O'Byrne MR, Au KS, Morrison AC, Lin JI, Fletcher JM, Ostermaier KK, Tyerman GH, Doebel S, Northrup H. Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele. Birth Defects Res A Clin Mol Teratol. Aug; 88(8):689-94, 2010.

72. Tran PX, Au KS, Morrison AC, Fletcher JM, Ostermaier KK, Tyerman GH, Northrup H.

Association of Retinoic Acid Receptor Genes with Meningomyelocele. Birth Defects Res A Clin Mol Teratol. Jan 91(1):39-43, 2011.

73. Cormier CM, Au KS, Northrup H. A 10bp deletion polymorphism and 2 new variations in

the GLUT1 gene associated with meningomyelocele. Reprode Sci. May:18 (5):463-8, 2011.

http://www.ncbi.nlm.nih.gov.ezproxyhost.library.tmc.edu/pubmed/19683694?itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum&ordinalpos=3



http://www.ncbi.nlm.nih.gov/pubmed/20419766

http://www.ncbi.nlm.nih.gov/pubmed/20419766

http://www.ncbi.nlm.nih.gov/pubmed?term=%22O'Byrne%20MR%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Au%20KS%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Morrison%20AC%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Lin%20JI%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Fletcher%20JM%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Ostermaier%20KK%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Tyerman%20GH%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Doebel%20S%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Doebel%20S%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Northrup%20H%22%5BAuthor%5D

32

74. Ruppe MD, Brosnan PG, Au KS, Tran PX, Dominguez BW, Northrup H. Mutational analysis

of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. Clin Endocrinol (Oxf). March, 74(3) 312-8, 2011.

75. Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML,

Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell, Sept, 16; 146(6): 889-903, 2011.

76. Niemi AK, Northrup H, Hudgins L, Berstein JA. Horseshoe kidney and a Rare TSC2

Variance in Two Unrelated Individuals with Tuberous Sclerosis Complex. American Journal of Medical Genetics. Oct; 155(10): 2534-7, 2011.

77. Tilley MM, Au KS, Northrup H. Genetic studies of the Cystathionine Beta-Synthase gene and

myelomeningocele. Birth Defects Res A Clin Mol Teratol. Jan; 94(1):52-6, 2012. Epub 2011 September 28. PMID: 21957013.

78. Aneji CU, Northrup H, Au KS. Deep Sequencing Study of the MTHFR Gene to Identify

Variants Associated with Myelomeningocele. Birth Defects Res A Clin Mol Teratol. Feb; 94(2): 84-90, 2012. Epub. Jan 12, 2012. PMID: 22241680

79. Kase BA, Northrup H, Morrison AC, Davidson CM, Goiffon AM, Fletcher JM, Ostermaier

KK, Tyerman GH, Au KS. Association of Copper-Zinc Superoxide Dismutase (SOD1) and Manganese Superoxide Dismutase (SOD2) Genes with Myelomeningocele. Birth Defects Res A Clin Mol Teratol. 2012 Oct;94(10):762-9. doi: 10.1002/bdra.23065. Epub 2012 Sep 13. PMID: 22972774

80. Koenig MK, Hebert AA, Roberson J, Samuels J, Slopis J, Woerner A, Northrup H. Topical Rapamycin Therapy to Alleviate the Cutaneous Manifestations of Tuberous Sclerosis Complex, a double-blind, randomized control trial to evaluate the safety and efficacy of topically applied rapamycin. Drugs R D. 2012 Sep 1;12(3):121-6. PMID:22934754

81. Spellicy CJ, Northrup H, Fletcher JM, Cirino PT, Dennis M, Morrison AC, Martinez CA, Au

KS. Folate Metabolism Gene 5,10-Methylenetetrahydrofolate Reductase (MTHFR) Is Associated with ADHD in Myelomeningocele Patients. PLoS One. 2012;7(12):e51330. Epub 2012 Dec 5. PMID:23227261

82. Bassuk AG, Muthuswamy LB, Boland R, Hulstrand AM, Smith TL, Northrup H, Hakeman

M, Dierdorf J, Yung, C, Au KS, Gurnett C, Houston DW , Cornell RA, and Manak JR. Copy Number Variation Analysis implicates the cell polarity gene Glypican 5 as a human spina bifida candidate gene. Hum Mol Genet. 2013 Mar 15; 22(6): 1097-1111. PMID: 23223018.

http://www.ncbi.nlm.nih.gov.ezproxyhost.library.tmc.edu/pubmed/21050253




http://www-ncbi-nlm-nih-gov.ezproxyhost.library.tmc.edu/pubmed/23227261


33

83. Gabitzsch EK, Hashmi SS, Koenig MK, Raia, MH, Whittemore VH, Northrup H, Nader-

Eftekhari S, Gambello MJ. Self-reported reproductive health in women with tuberous sclerosis complex. Genetics in Medicine. 2013 May;15 (12): 966-71. PMID: 23660529

84. Krueger DA, Northrup H; International Tuberous Sclerosis Complex Consensus Group.

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct;49(4):255-65. PMID: 24053983

85. Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group.

Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol. 2013 Oct;49(4):243-54. PMID: 24053982

86. Kase BA, Northrup H, Au KS. Novel single nucleotide polymorphisms in the superoxide

dismutase 1 and 2 genes among children with myelomeningocele. Am J Obstet Gynecol. 2013 Oct; 209(4):388. Epub 2013 Jun 20. PMID: 23792044. PMCID: PMC3786042

87. Northrup H. The mTOR inhibitor revolution rolls on. Lancet Oncol. 2014 Dec; 15(13): 1418-9. PMID: 25456358

88. Connealy BD, Northrup H, Au KS. Genetic variations in the GLUT3 gene associated with myelomeningocele. Am J Obstet Gynecol. 2014 May 9. pii: S0002-9378(14)00450-5. doi: 10.1016/j.ajog.2014.05.013. PMID: 24813597.

89. Soler-Alfonso C, Enns GM, Koenig MK, Saavedra H, Northrup H. Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: A unique gene involved in valine metabolism. Pediatric Neurology. 2015 Mar, 52(3): 361-5. PMID: 25591832.

90. Ruggiero J, Northrup H, Au KS. Association of facilitated glucose transporter 2 gene variants

with the myelomeningocele phenotype. Birth Defects Res Part A. 2015 Jun: 103(6): 479-87. PMID: 25776730.

91. Wu JY, Peters JM, Goyal M, Krueger D, Sahin M, Northrup H, Au KS, Cutter G, Bebin EM.

Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants. Pediatr Neurol. 2016 Jan;54:29-34. doi: 10.1016/j.pediatrneurol.2015.09.013. Epub 2015 Sep 25. PMID:26498039.

92. Nguyen J, Lemons J, Crandell S, Northrup H. Efficacy of medical genetics rotation during

pediatric training. Genet Med. 2016 Feb;18(2):199-202. doi: 10.1038/gim.2015.65. Epub 2015 May 14. PMID: 25973883.





34

93. Farach LS, Northrup H. KIAA2022 Nonsense Mutation in a Symptomatic Female. Am J Med Genet A. 2016 Mar;170(3):703-6. doi: 10.1002/ajmg.a.37479. Epub 2015 Nov 17. PMID:26576034.

94. Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21. PMID:26805781

95. Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med. 2016 May 19. doi: 10.1038/gim.2016.53. [Epub ahead of print] PMID:27195816

96. Sahin M, Henske EP, Manning BD, Ess KC, Bissler JJ, Klann E, Kwiatkowski DJ, Roberds

SL, Silva AJ, Hillaire-Clarke CS, Young LR, Zervas M, Mamounas LA; Tuberous Sclerosis Complex Working Group to Update the Research Plan. Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. Pediatr Neurol. 2016 Apr 2. doi: 10.1016/j.pediatrneurol.2016.03.015. [Epub ahead of print] PMID:27267556

97. Nguyen MP, Lupo PJ, Northrup H, Morrison AC, Cirino PT, Au KS. Maternal gene-

micronutrient interactions related to one-carbon metabolism and the risk of myelomeningocele among offspring. Birth Defects Res A Clin Mol Teratol. 2016 Jul 7. doi: 10.1002/bdra.23538. [Epub ahead of print] PMID: 27384413

98. Yang J, Bassuk AG, Merl-Pham J, Hsu CW, Colgan DF, Li X, Au KS, Zhang L, Smemo S,

Justus S, Nagahama Y, Grossbach AJ, Howard MA 3rd, Kawasaki H, Feldstein NA, Dobyns WB, Northrup H, Hauck SM, Ueffing M, Mahajan VB, Tsang SH. Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors. Hum Mol Genet. 2016 Aug 11. pii: ddw253. [Epub ahead of print] PMID: 27516388

99. Shah RH, Northrup H, Hixson JE, Morrison AC, Au KS. Genetic association of the glycine

cleavage system genes and myelomeningocele. Birth Defects Res A Clin Mol Teratol. 2016 Oct;106(10):847-853. doi: 10.1002/bdra.23552. PMID: 27620832





https://www-ncbi-nlm-nih-gov.ezproxyhost.library.tmc.edu/pubmed/27384413







35

100. Nguyen MP, Lupo PJ, Northrup H, Morrison AC, Cirino PT, Au KS. Maternal gene-micronutrient interactions related to one-carbon metabolism and the risk of myelomeningocele among offspring. Birth Defects Res. 2017 Jan 30; 109(2)” 99-105. PMID: 27384413.

101. Farach Ls, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E,

Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H. TSC2 c. 1864C>T variant associated with mild cases of tuberous sclerosis complex. Am J Med Genet A 2017 Mar, 173(3): 771-775. PMID: 28211972.

102. Rosnau K, Hashmi SS, Northrup H, Slopis J, Noblin S, Ashfaq M. Knowledge and Self-Esteem of Individuals with Neurofibromatosis Type 1 (NF1). J Genet Couns. 2017 Jun; 26(3):620-627. 2016 Nov 4. Epub ahead of print. PMID: 27815662.

103. Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP. A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States. Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2774-2784. doi: 10.1167/iovs.16-21341. PMID: 28549094.

104. Martin KR, Zhou W, Bowman MJ, Shih J, Au KS, Dittenhafer-Reed KE, Sisson KA, Koeman J, Weisenberger DJ, Cottingham SL, DeRoos ST, Devinsky O, Winn ME, Cherniack AD, Shen H, Northrup H, Krueger DA, MacKeigan JP. The genomic landscape of tuberous sclerosis complex. Nat Commun. 2017 June 15; 8:15816. Doi 10.1038. PMID: 28643795.

105. Aggarwal A, Rodriguez-Buritica DF, Northrup H. Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. Eur J Med Genet. 2017 Jun; 60(6): 285-288. PMID: 28359930.

106. Wagner VF, Northrup H, Hashmi SS, Nguyen JM, Koenig MK, Davis JM.

J Genet Couns. Attitudes of individuals with Gaucher Disease toward Substrate Reduction Therapies. 2017 Aug 13. doi: 10.1007/s10897-017-0137-0. PMID. 39903392.

107. Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7. PMID: 28934986.

https://www.ncbi.nlm.nih.gov/pubmed/28549094



36

108. Au KS, Findley T, Northrup H. Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned. Am J Med Genet A. 2017 Nov, 173(11):3042-3057. Doi 10.1002/ajmg.a.38478. Epub Sep 25. Review PMID:28944587.

109. Findley TO, Tenpenny JC, O'Byrne MR, Morrison AC, Hixson JE, Northrup H, Au KS. Mutations in folate transporter genes and risk for human myelomeningocele. Am J Med Genet A. 2017 Nov;173(11):2973-2984. doi: 10.1002/ajmg.a.38472. Epub 2017 Sep 26. PMID: 28948692. 110. Davis PE, Filip-Dhima R, Sideridis G, Peters JM, Au KS, Northrup H, Bebin EM, Wu JY, Krueger D, Sahin M; Tuberous Sclerosis Complex Autism Center of Excellence Research Network. Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants. Pediatrics. 2017 Nov 3. pii: e20164040. doi: 10.1542/peds.2016-4040. [Epub ahead of print] PMID: 29101226 111. Chung P, Northrup H, Azmath M, Mosquera RA, Moody S, Yadav A. Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V. Case Rep Pediatr. 2018 Jan 30;2018:8516285. doi: 10.1155/2018/8516285. eCollection 2018. PMID: 29527379 112. Sagaser KG, Stevens B, Davis J, Northrup H, Ramdaney A. Close but not quite: Two cases of sex chromosome aneuploidies outside the scope of cell free DNA screening. Prenat Diagn. 2018 Apr 12. doi: 10.1002/pd.5264. [Epub ahead of print] No abstract available. PMID: 29644704. 113. Thomas J, Levy H, Amato S, Vockley J, Zori R, Dimmock D, Harding CO, Bilder DA, Weng HH, Olbertz J, Merilainen M, Jiang J, Larimore K, Gupta S, Gu Z, Northrup H; PRISM investigators. Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical program (PRISM). Mol Genet Metab. 2018 May;124(1):27-38. doi: 10.1016/j.ymgme.2018.03.006. Epub 2018 Mar 31. PMID: 29653686. 114. Bernardo D, Nariai H, Hussain SA, Sankar R, Salamon N, Krueger DA, Sahin M, Northrup H, Bebin EM, Wu JY; UCLA Pediatric Epilepsy Group; TACERN Study Group. Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex. Clin Neurophysiol. 2018 Jul;129(7):1458-1466. doi: 10.1016/j.clinph.2018.03.010. Epub 2018 Apr 3. PMID: 29673547. 115. Koenig MK, Bell CS, Hebert AA, Roberson J, Samuels JA, Slopis JM, Tate P, Northrup H; TREATMENT Trial Collaborators. Efficacy and Safety of Topical Rapamycin in Patients with Facial Angiofibromas Secondary to Tuberous Sclerosis Complex: The TREATMENT Randomized Clinical Trial. JAMA Dermatology 2018 [Epub May 23]. PMID 29800048. 116. Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220/


https://urldefense.proofpoint.com/v2/url?u=https-3A__www.ncbi.nlm.nih.gov_books_NBK1220_&d=DwMFAg&c=6vgNTiRn9_pqCD9hKx9JgXN1VapJQ8JVoF8oWH1AgfQ&r=wyb_nyfkZ6qlRF4HzPGB64fLzjQ2Dihg5CccCxG61Hk&m=L6J1i1sYMru0l8hlP2RE4EvfwsOxEZfXt1OHdLHlKUI&s=7XaawKyhMiyZ2F3dRPuUIDgTof3nyz4W2rQcRUOWzVs&e=

37

INVITED ARTICLES (REVIEWS, EDITORIALS, ETC.): 1. Review of Inborn Errors of Metabolism, Nestle Nutrition Workshop Series, Vol. 24. Eds.

Jurgen Schaub, Francois Van Hoof, Henri L, Vis. New York: Raven Press, pp. 298, 1991. 2. Northrup H: Tuberous sclerosis complex: genetic aspects. Invited review, J Derm

19(11):914-919, 1993. 3. Review of Recessive inheritance of von Willebrand’s disease type 1, J Pediatr, pp 832, 1993. 4. Tucker AJ, Northrup H: Who are these geneticists and why do I need them? Perspective,

Newsletter of the NTSA. Vol. 20, Summer 2000. 5. Northrup H, Kwiatkowski D, Tucker AJ: Molecular genetic testing for tuberous sclerosis.

Perspective, Newsletter of the NTSA. Vol. 20, Summer 2000. 6. Whittemore V, Tucker AJ, Northrup H: TSC fact sheet: understanding the genetics of

tuberous sclerosis complex. NTSA Fact Sheet, 2000. 7. Review of Neurogenetics, Arch Neurology, 2000.

8. Northrup H. The mTOR inhibitor revolution rolls on. Lancet Oncol. 2014 Dec;15(13):1418-9.

PMID: 25456358

9. Extensively quoted for article “A Coming Together of like Minds: This Is ACMG 2016” in my role as Chairman of the program Committee for the 25th Annual ACMG Meeting in Tampa, FL. Frontline Genomics Magazine, ACMG Issue 2016, pp 22-25.

10. Northrup, H, Dalrouth J, Radford J: 2016 ACMG Meeting Highlights. The ACMG Medical

Geneticist. Spring/Summer 2016 pp7-11. D. CHAPTERS 1. Hebert AA, Northrup H: Inherited disorders of deposition (Gaucher’s, Hartnup). IN Arndt K,

Leboit P, Robinson J, Wintroub B (Eds.) “Cutaneous Medicine and Surgery”. Boston: WB Saunders Co., Vol 2, pp 1766-1769, 1993.

2. Northrup H, Au K-S: Gene mapping: TSC1. IN Gomez MR (Ed.) “Tuberous Sclerosis”.

Lippencott-Raven, 3rd Edition, 1997.


38

3. Fletcher JM, Dennis MF, Northrup H: Neuropsychology of early hydrocephalus: sources of variability in outcome domains. IN Yates KO, Ris MD, Taylor HG (Eds.) “Pediatric Neuropsychology: Research, Theory, and Practice”. Erlbaum, Hillsdale, NJ, 2000.

4. Au K-S, Northrup H: Genetics of neurocutaneous disorders. In "Neurocutaneous Disorders".

Cambridge University Press, 2004. 5. Kirkpatrick TJ, Northrup H: Genetics of neural tube defects. In "Encyclopedia of the Human

Genome", 2003. 6. Fletcher JM, Dennis M, Northrup H, Barnes MA, Hannay HJ, Landry S, Copeland K, Blaser

SE, Kramer LA, Brandt ME, Francis DJ: Spina bifida: genes, brain and development. IN Glidden L (Ed.) “International Review of Research in Mental Retardation”. Academic Press, San Diego, CA, In Press, 2003.

7. Northrup H, Lead Author. Newborn Screening Fact Sheet for the American Academy of

Pediatrics. Maple Syrup Urine Disease (MSUD)(Branched Chain Ketoaciduria), 2006. 8. Northrup H, Lead Author. Newborn Screening Fact Sheet for the American Academy of

Pediatrics. Biotinidase Deficiency, 2006. 9. Northrup H, Lead Author. Newborn Screening Fact Sheet for the American Academy of

Pediatrics. Medium Chain Acyl-CoA-Dehydrogenase (MCAD), 2006. 10. Au KS, Northrup H. Genotype-Phenotype Studies in TSC and Molecular Diagnostics. Chapter

5 in Tuberous Sclerosis Complex, Fourth Edition edited by E Thiele, Whittemore VH and Kwiatkowski DH, 2010.

11. Northrup H, Gambello MJ, Au KS, Koenig MK. Tuberous Sclerosis Complex; Chapter 55 in

Management of Genetics Syndromes, Third Edition edited by Suzanne B Cassidy and Judith E. Allanson; pp 825-845, 2010.

12. Woerner AC, Hebert AA, Northrup H. Tuberous Sclerosis Complex. In Clinical Decision

Support: Dermatology. September 21, 2012. http://www.decisionsupportinmedicine.com/authorworkflow

13. Ray JW and Northrup H. Perinatal Cardiology: Genetics of Congenital Heart Disease. Minneapolis, MI: Cardiotext 2014.

E. OTHER PROFESSIONAL COMMUNICATIONS

1. Oral presentation: National Tuberous Sclerosis Workshop, Baltimore, MD, November 1989.

2. Invited speaker: “Tuberous Sclerosis: Clinical and Genetic Studies”. Neurology Grand Rounds, University of Texas Medical School - Houston, TX, November 1989.

http://www.decisionsupportinmedicine.com/authorworkflow

39

3. Invited participant: “Hypoglycemias of Infancy”. Pediatric Grand Rounds, University of

Texas Medical School - Houston, TX, December 1989.

4. Poster presentation: “Tuberous Sclerosis and Allied Disorders”. New York Academy of Sciences Meeting, Bethesda, MD, April 1990.

5. Invited participant: Panel Discussion: National Tuberous Sclerosis Workshop, Cincinnati,

Ohio, October 1990.

6. Invited participant: “TSC - Current Research”. Faculty - fellow Forum, Department of Pediatrics, University of Texas Medical School - Houston, TX, December 1990.

7. Invited speaker: “DNA Diagnostics”. Pediatric Grand Rounds, University of Texas Medical

School - Houston, TX, January 1991.

8. Invited speaker: “Molecular Genetics”. Lake Jackson Combined Ob/Gyn and Pediatric Group, Spring, 1991.

9. Invited speaker: “DNA Diagnostics”. Pediatric Grand Rounds, M.D. Anderson Cancer

Center. Spring, 1991.

10. Invited speaker: “Inborn Errors of Metabolism”. Pathology Grand Rounds, University of Texas Medical School - Houston, TX, July 1991.

11. Oral presentation: National Tuberous Sclerosis Association Workshop, Washington, D.C.,

October 1991.

12. Invited speaker: “Tuberous Sclerosis: An Example of a Disease with Genetic Locus Heterogeneity”. 91st Annual Meeting of the Japanese Dermatological Association, Tokyo, Japan, April 1992.

13. Invited speaker: “Metabolic Disorders in the Neonate”. 3rd Annual Perinatal Conference,

Houston, TX, June 1992.

14. Course Co-Director: “Tuberous Sclerosis: New Discoveries in a Syndrome of Genetic Origin”. 32nd Annual Teratology Society Meeting, Boca Raton, FL, June 1992.

15. Invited speaker: “Tuberous Sclerosis Complex: Clinical and Genetic Aspects”. Pediatric

Grand Rounds, University of Texas Medical School - Houston, TX, October 1992.

16. Invited speaker: “Genetic Aspects of Tuberous Sclerosis Complex”. National Tuberous Sclerosis Association Symposium, Dallas, TX, January 1993.

40

17. Invited speaker: “Neurocutaneous Genetic Diseases”. Pediatric Nurse Practitioner’s Organization, Houston, TX, January 1994.

18. Panel moderator: “Ethical Issues of Genetic Research in Children”. Conference on Dilemmas

and Resolutions: Research with Children as Subjects, sponsored by the University of Texas Health Science Center Committee for the Protection of Human Subjects, Houston, TX, February 28 - March 1, 1994.

19. Invited speaker: “Tuberous Sclerosis Complex: An Example of a Disease with Genetic

Heterogeneity”. Seminar Series, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, April 1994.

20. Invited speaker: “Tuberous Sclerosis Complex: From Linkage Studies to Disease Gene”.

Basic Science Conference, University of Texas Health Science Center at Houston, June 1994.

21. Invited speaker: “Mutations and a Polymorphism in the TSC2 Gene”. National Tuberous Sclerosis Association 20th Anniversary Symposium, Washington, D.C., October 1994.

22. Invited speaker: “The Newborn Crash”. Houston Area Association of Neonatal Nurses

Meeting, Houston, TX, October 1994.

23. American Medical Student Group Panel Discussion, January 1995.

24. Guest speaker: “Tuberous Sclerosis Complex (TSC)”. Graduate School Symposium, Houston, TX, January 1995.

25. Invited speaker: “Tuberous Sclerosis Complex (TSC)”. Texas Genetics Society Annual

Meeting, San Antonio, TX, February 1995.

26. Invited speaker: “Genetics of Tuberous Sclerosis”. National Tuberous Sclerosis Association, Dallas Tuberous Sclerosis Medical Education Conference, Dallas, TX, March 1995.

27. Invited speaker: “Overview of Genetics”. Hemoglobinopathies Conference, Houston, TX,

April 1995.

28. Invited speaker: “Tuberous Sclerosis Complex (TSC): Genetic Aspects”. National Tuberous Sclerosis Association, Detroit Tuberous Sclerosis Medical Education Conference, Detroit, MI, June 1995.

29. Pathology Research Conference, Houston, TX, September 1995.

30. CPHS presentation. “Gene Therapy”. Houston, TX, September 1995.

31. PNP lecture. “Recognizing Metabolic Emergencies”. Houston, TX, October 1995.

41

32. Ophthalmology Grand Rounds, University of Texas Medical School, Houston, TX, November 1995.

33. Invited speaker: “TSC2 Mutational Analysis in a Cohort of 90 Probands”. TSC International

Research Symposium, Bath, UK, September 1996.

34. Pediatric Grand Rounds, University of Texas Medical School, Houston, TX, September 24, 1996.

35. Invited speaker: “Tuberous Sclerosis Complex (TSC): Genetic Aspects”. 1st Canadian

Tuberous Sclerosis Medical Education Conference, Toronto, Canada, October 1996.

36. Platform presentation: “TSC2 Mutations”. National Tuberous Sclerosis Association Workshop, San Francisco, CA, October 1996.

37. Pathology Grand Rounds: “TSC2: Mutational Studies and Genotype/Phenotype Correlation”.

University of Texas Medical School, Houston, TX, February 19, 1997.

38. Honored Speaker: Tuberous Sclerosis Gala Fundraiser Dinner, April 1997; two television interviews (Channel 11) prior to Gala - one on evening weekend news and one on Claire Casedemont’s morning show.

39. Invited speaker: National Tuberous Sclerosis Board of Directors Meeting, Dallas, TX, June

1997.

40. Invited laboratory to participate in the National Youth Leadership Forum, July 1996, July 1997.

41. Chair, International Tuberous Sclerosis Workshop, Baltimore, MD, October 1997.

42. Co-Organizer and Speaker, Advances in Neurogenetic Disorders and Tuberous Sclerosis

Conference, Galveston, TX, April 1998.

43. Co-Chair, Clinical Panel, International Tuberous Sclerosis Consortium, Annapolis, MD, July 1998.

44. Co-Chair, International Tuberous Sclerosis Consensus Conference, July 1998.

45. Invited speaker: Department at UCLA Medical School Research Seminar Series. Los

Angeles, CA, May 1999.

46. Invited speaker, Pediatric Grand Rounds: “Tuberous Sclerosis Complex: Molecular Insights into Clinical Puzzles”. University of Texas Health Science Center at San Antonio, San Antonio, Texas, May 1999.

42

47. Pediatric Grand Rounds: “Tuberous Sclerosis Complex: Molecular Insights into Clinical Puzzles”. University of Texas – Houston Medical School, Houston, Texas, August 1999.

48. Invited speaker, Pediatric Grand Rounds: “Tuberous Sclerosis Complex: Molecular Insights

into Clinical Puzzles”. University of Texas Medical Branch, Galveston, Texas, October 1999.

49. Invited speaker, Ob/Gyn Grand Rounds: “ Research on spina bifida”. University of Texas –

Houston Medical School, Houston, Texas, January 11, 2000.

50. Invited speaker: Birth Defects Conference, Texas Department of Health, Houston, Texas, January 2000.

51. Invited speaker, Neurology Grand Rounds: “Tuberous Sclerosis Complex: Molecular Insights

into Clinical Puzzles”. University of Texas – Houston Medical School, Houston, Texas, July 2000.

52. Invited speaker, 29th Annual Shriners Pediatric Orthopaedic Lectureship: “Genetic

Syndromes Simulating Cerebral Palsy”. Shriners Hospital for Children-Houston and Baylor College of Medicine, Houston, TX, March 2001.

53. Poster presentation: “Searching for Genetic Modifiers of Tuberous Sclerosis Genes”. New

Perspectives in Tuberous Sclerosis Complex Research Conference; Tuberous Sclerosis Alliance and the National Institutes of Health, September 2002.

54. Poster presentation: “Mutation Detection Rates and Organ System Involvement in Sporadic

Tuberous Sclerosis Complex”. New Perspectives in Tuberous Sclerosis Complex Research Conference; Tuberous Sclerosis Alliance and the National Institutes of Health, September 2002.

55. Pediatric Grand Rounds: "The Metabolic Crash". Driscoll Children's Hospital, Corpus

Christi, TX, November 2002.

56. Invited Speaker: “Spina Bifida: A Common, Complex Birth Defect”. Texas Children’s Hospital, 2003.

57. Invited Speaker, Tuberous Sclerosis Alliance Regional Conference: “Genetic and

Reproduction Issues in Tuberous Sclerosis”. Dallas, Texas, November 2005.

58. Invited speaker, Advances in Neurology: “Tuberous Sclerosis Complete: From Bench to Bedside”. Methodist Neurological Institute, Houston, Texas, January 2006.

59. Invited speaker, Human and Molecular Genetics Mini-Symposium: “Tuberous Sclerosis

Complex: rom Bench to Bedside”. GSBS, Houston, Texas, March 2006.

43

60. Pediatric Grand Rounds: “Tuberous Sclerosis Complex: From Bench to Bedside”. University of Texas Health Science Center at Houston, Houston, Texas, March 2006.

61. Invited Speaker, President’s Executive Luncheon: “From Laboratory to Patient Care: Studies

of a Rare Genetic Disorder”. University of Texas Health Science Center, Houston, Texas, April 2006.

62. Invited Speaker, Tuberous Sclerosis Alliance National Family Conference:“Genetic and

Reproduction Issues in Tuberous Sclerosis”. Chicago, Illinois, July 2006.

63. Pediatric Grand Rounds: “Enzyme Replacement Therapy.” University of Texas – Houston Medical School, Houston, Texas, September 2007.

64. Pediatric Department Research Conference: “Effect of Genetic Polymorphisms on Human

Genetic Disease Symptoms: Tuberous Sclerosis Complex.” University of Texas – Houston Medical School, Houston, Texas, November 2007.

65. Invited speaker, Maternal Fetal Medicine/Perinatal Conference at Memorial Hermann

Hospital April 19, 2008. “Update on Spina Bifida”.

66. Speaker, Annual TSC Bowling Tournament Fundraiser. June 2008.

67. Invited Speaker, Research Day Complex Determinants in Health: Interactions of Genetic Factors and Environmental Influences: “Spina Bifida: Focus on Folate”. Given by Dr. Northrup and PhD student Michelle R. O’Byrne on November 21, 2008 at the Institute for Molecular Medicine, UTHSC, 2008.



70. Invited Speaker. YPO Project with Dr. Thomas Caskey. “Whole Genome Sequencing-What

Can it Tell us?” October 19, 2010.

71. Speaker, Neurobiology of Disease Course. “Tuberous Sclerosis: From Bedside to Bench and Back Again.” November 10, 2010.

72. Invited Speaker. Epilepsy Meeting in San Antonio, Texas. “Genetics of Tuberous

Sclerosis.” December 5, 2010.

73. Invited Speaker. Annual Meeting of Society for Pediatrics Dermatology in New Orleans, LA. “Tuberous Sclerosis Complex.” February 4, 2011.

74. Invited Speaker. Memorial Hermann Hospital Memorial City. CME series for Pediatricians.

“Genetic Testing.” February 8, 2011.

44

75. Lecturer, GSBS Course for MFM and Neonatal Fellows. February 21, 2011.

76. Invited Speaker. Tuberous Sclerosis Alliance, Teleconference presentation. “Genetics of

TSC and Reproductive Options.” February 22, 2011.

77. Invited Speaker. Tuberous Sclerosis Alliance, Teleconference presentation. “Topical Rapamycin Trial for Facial Angiofibrimas of TSC.” March 24, 2011.

78. Speaker, Pediatric Grand Rounds. “Genetic Testing.” April 26, 2011.


80. Speaker, PICU Division Lecture Series. “Genetic Testing.”

81. Speaker, Neurobiology of Disease Course. “Tuberous Sclerosis: From Bedside to Bench and

Back Again.” June 29, 2011.

82. Invited Speaker for Wellness Class 7th Grade Presbyterian School. “What is Medical Genetics?” Provided during two academic years [ 2011-2012 (9/2/2011, 10/28/2011, 2/3/2012 and 4/27/2012) and 2012-2013 (11/12/2012, 11/14/2012, 11/16/2012, 1/8/2013 and 4/12/2012)]

83. Participate, DOD Tuberous Sclerosis CRP Grant Panel. Reston, Virginia. October 19 -21,

2011.

84. Reviewer, Panel A for the Department of Defense TSCRP Program. October 2011.

85. Invited presentation, Northrup H. Tuberous Sclerosis Complex: From Bedside to Bench and Back Again. 10th International VHL Medical Conference, Houston, TX, USA. Jan 27-28, 2012.

86. Presenter, TSC Washington DC Regional Educational Conference sponsored by the Tuberous

Sclerosis Alliance. June 2012.

87. Participant, First TSC National Walk on the Mall. June 2012

88. Co-Chair and Presenter, International Tuberous Sclerosis Consensus Conference, June 14-15, 2012.

89. Presenter, TSC Regional Conference in Houston, TX. June 23, 2012.

90. Organizer and Presenter, TSC Houston Regional Educational Conference sponsored by the

Tuberous Sclerosis Alliance, June 23, 2012.

45

91. Speaker, Annual TSC Bowling Tournament Fundraiser. July 2012.

92. Speaker, Annual TSC Golf Tournament Fundraiser. September 13 2012.

93. Invited Speaker, Pediatric Dermatology Meeting, Houston, Tx, September 15th, 2012. Use of mTOR Inhibitors to Treat Tuberous Sclerosis Complex (TSC)

94. Invited Speaker SPH Human Genetics Center Seminar Series October 22, 2012. “Tuberous

Sclerosis Complex: From Bedside to Bench and Back Again”

95. MFM Fellows Lecture Series: “Genetic Testing”. January 3, 2013.

96. Pediatric Grand Rounds Presentation: “What’s New in Tuberous Sclerosis Complex?” February 5, 2013.

97. Presenter: Genetics Core Lab. ACE Network Meeting Cincinnati, Ohio, February 28-March

1st, 2013.

98. Invited Speaker TS Alliance Teleconference Presentation: “Update on the Diagnostic Criteria for TSC”. March 5, 2013.

99. Invited Speaker at TS Alliance International Research Meeting, Washington, DC, June 20,

2013. “Update on TSC Diagnostic Criteria”.

100. Invited Speaker TSC Bowling Tournament Fundraiser, Houston, TX, July 19, 2013.

101. Invited Speaker TSC Golf Tournament, Houston, TX, September 13, 2013. 102. Invited speaker, Neonatology Board review Course sponsored by the AAP, San Diego, CA,

January 16, 2014. “Dysmorphology”. 103. Invited Speaker, UT Medical Students Pediatric Interest Group, March 17, 2014. “What is

Medical Genetics?”

104. Invited Speaker at 2014 World TSC Conference, Washington, DC, July 4, 2014. “TSC Clinical Consensus Conference: Updates on International Gold Standards in Diagnosis, Testing and Treatment, and Practical Guide for Sharing These with your Healthcare Providers.”

105. Invited Speaker at 2014 World TSC Conference, Washington, DC, July 5, 2014. “Optimizing

Recruitment for Clinical Studies.”

106. Invited Speaker at 2014 World TSC Conference, Washington, DC, July 5, 2014. “Genetics Made Simple.”

46

107. Invited Speaker TSC Bowling Tournament Fundraiser, Houston, TX, July 18, 2014.

108. Invited Speaker TSC Golf Tournament Fundraiser, Houston, TX, September 5, 2014.

109. Invited Speaker TSC Days Conference Multidisciplinary and Integrated Approach to TSC: A New Era of Personalized Medicine, Dublin, Ireland, September 12-13, 2014. Provided two presentations: “Advances in TSC Genetics: Implications in the Diagnosis” and “Updated Guidelines in the Management of SEGA, TSC-Associated Neuropsychiatric Disorders, and Seizures”

110. Invited Speaker South Carolina Genetics Conclave The Treatment of Genetic Disorders,

Greenwood, SC, September 26, 2014. Provided presentation entitled: “Tuberous Sclerosis Complex: from Bedside to Bench and Back Again”

111. Invited Speaker PRISM 301 & 302 Investigator meeting Quest for Success! In San Francisco,

CA, October 9-10, 2014. Provided presentation entitled “Recruitment and Retention for PEG-PAL Study”

112. Organizer and Speaker Educational Preceptorship for Novartis Pharmaceuticals, Houston,

TX, November 17-18, 2014. Provided presentation entitled: “ Tuberous Sclerosis Complex (TSC): Introduction, Genetic Basis and Diagnostic Criteria:

113. TSC Roundtable CME Program sponsored by Educational Concepts Group (ECG) filmed in

Atlanta, GA, December 17, 2014. Provided presentation entitled: “Genetics and Affected Molecular Pathways in TSC”. Available for CME credit for one year from time of release scheduled for February 2015.

114. Invited Participant, Hermann’s Heroes (for Children’s Memorial Hermann Hospital),

February 16, 2015, Hotel Granduca

115. Co-Chair Workshop Break Out Group entitled “Understanding Phenotypic Heterogeneity in TSC” held as part of the NIH Conference “Unlocking Treatments for TSC: 2015 Strategic Plan” March 10-12, 2015, Bethesda, MD. Presented results to conference reading our results and recommendations.

116. Invited Platform, 2015 ACMG (American College of Medical Genetics) Annual Clinical

Meeting, March 24-28, Salt Lake City, Utah. Moderator and Presenter, Scientific Session entitled “What’s New in TSC and NF1? An Update Including the Latest Regarding Diagnosis, Surveillance and Therapies”; my presentation entitled “Tuberous Sclerosis Complex: New Diagnostic Criteria and Surveillance and Management Guidelines”.

117. Rare Disease Network Consortium Launch meeting, March 23-24th, 2015. Presentations:

“Genetics Core” and Educational Core”.

118. Invited Speaker: 9th Annual Oilfield Bowling Tournament July 17, 2015.

47

119. Moderator of Session 1: Early Diagnosis and the Impact of Genetics on Diagnosis, 2015

International Research Conference on Tuberous Sclerosis Complex: From Treatment to Prevention, September 10-12, 2015, Windsor, England.

120. Invited Speaker, Annual TSC Walk in Houston, TX, September 26, 2015.

121. Invited Speaker, 44th Annual meeting of the Child Neurology Society, October 7-10th, 2015,

National Harbor, MD, Symposium V: Optimizing Epilepsy and Developmental Outcomes in Pediatric Genetic Disorders: TSC as a Model for Early Diagnosis and Intervention During Infancy, Presentation entitled: “TSC Diagnostic Criteria and Role of Genetic Testing in TSC”.

122. Invited Presenter, TS Alliance Biorepository meeting, Van Andel Institute, Grand Rapids,

MI, October14, 2015. Presentation on DNA Resources.

123. Invited Speaker, 5th Annual Golf Tournament Benefitting TSC, October 16, 2015.

124. Invited Presenter, Grand Rounds Cook Children’s Hospital, Fort Worth, TX, “Tuberous Sclerosis Complex: From Bedside to Bench and back Again”, October 20, 2015.

125. Organizer and Speaker Educational Preceptorship for Novartis Pharmaceuticals, Houston,

TX, November 16-17, 2015. Provided presentation entitled: “Tuberous Sclerosis Complex (TSC): Introduction, Diagnostic Criteria and Genetic Basis.

126. Interviewed by Frontline Genomics about the 2016 ACMG Annual Clinical Genetics

Meeting in my role as Chairman of the Program Committee.

127. Invited speaker, Neonatology Board review Course sponsored by the AAP, San Diego, CA, January 16, 2014. “Approach to the Dysmorphic Neonate”.

128. Invited speaker, Regional LAM Meeting sponsored by the LAM Foundation, Houston, Texas,

January 30, 2016. “Genetics: How It Relates to LAM and/or TSC”

129. Invited Speaker, Australasian Association of Clinical Geneticists (AACG) Dysmorphology Meeting, Sydney, Australia, February 18, 2016. “Tuberous Sclerosis Complex: From Bedside to Bench and Back Again”.

130. Invited Speaker, Epilepsy and Tuberous Sclerosis Information Day, Brisbane, Australia,

February 21, 2016. “Genetics of tuberous Sclerosis”.

131. Moderator and Organizer, Closing Plenary Session of ACMG, March 12, 2016. “Therapies for Genetic Diseases: New Options”.

48

132. Pediatric Grand Rounds, McGovern Medical School, Houston, TX, March 29, 2016. “An Update on Lysosomal Storage Disease: Sometimes Treatable and Not as Rare (or Deadly) as You Think”.

133. Invited Speaker, Grand Rounds, Alfred I. DuPont Nemours Children’s Hospital, Wilmington,

DE, April 27, 2016. “Tuberous Sclerosis Complex: From Bedside to Bench and Back Again”.

134. Invited Speaker, Teratology Society March of Dimes Symposium on New Approaches to the

Treatment of Birth Defects, San Antonio, TX, June 27, 2016. “Tuberous Sclerosis Complex: From Bedside to Bench and Back Again”.


136. Invited Speaker: TSC Clinic Updates and ACR Resources September 17, 2016. Houston,

Texas.


138. Invited Keynote Speaker: “Mentoring and Sponsorship” at the Young Investigator Pre-Meeting June 21st 2017 held in conjunction with the 2017 International Research Conference on TSC and LAM: Innovating Through Partnerships, June 22-24th, 2017 in Washington, DC.

139. Invited Speaker, TSCi (TSC International) dinner June 21st, 2017, held in conjunction with

the 2017 International Research Conference on TSC and LAM: Innovating Through Partnerships, June 22-24th, 2017, in Washington, DC.

140. Panelist, Genetics Workshop at the 2017 International Research Conference on TSC and LAM: Innovating Through Partnerships, June 22-24th, 2017, in Washington, DC.

141. Moderator, 2017 International Research Conference on TSC and LAM: Innovating Through Partnerships, June 22-24th, 2017, Washington, DC. Plenary Session #5.


143. Invited Speaker for BioMarin Pharmaceuticals Latin American Advisory Board September

3rd, 2017, Rio de Janeiro, Brazil, “Case Studies in Pegvaliase Treatment”

144. Invited Guest Speaker on George Willy’s Radio Program October 18th, 2017, on topic of Medical Genetics


146. Invited Speaker NeoPrep, January 20, 2018, Atlanta, Georgia. Two presentations: “Approach

to the Infant with Congenital Anomalies” and “Audience Response System case Vignetttes:

49

Recognize that Disorder and Order the Correct Test” as well as panel participant: “Exploring Ethical Dilemmas-Genetic Testing and Care of Infants with Congenital Anomalies”

147. Invited Speaker, TSC Summit, January 23, 2018, Houston Texas. “TSC Research Updates

2018”

148. Pediatric Grand Rounds co-presenter with Heather Saavedra, MS, RD, LD, March 20, 2018, McGovern Medical School, Houston, TX. “PKU: What’s Old? What’s New?”

149. 2018 Samuel Pruzansky Memorial Lecturer at the 49th Annual March of Dimes Clinics

Genetics Conference held in conjunction with the Annual Clinical Genetics Meeting of the American College of Medical Genetics, April 12, 2018, Charlotte, NC. “Spina Bifida: New Insights into a Common Congenital Malformation”.

150. Invited Presentation for BioMarin Pharmaceuticals Workshop held at Annual Clinical

Genetics Meeting of the American College of Medical Genetics, April 13, 2018, Charlotte, NC. “Case Studies in the Pegvaliase Phase 3 Clinical Trials”

151. Invited Platform, Annual Clinical Genetics Meeting of the American College of Medical

Genetics, April 13, 2018, Charlotte, NC. “Phase 3 PRISM Clinical Trials: Association of blood Phenylalanine Levels and Inattention Scores After Pegvaliase Treatment in Adults with PKU”

152. Invited presentation at the 24rd Annual Workshop and Special Interest Group Meetings held

May 2, 2018 during the Medical Genetics Program Directors SIG, Albuquerque, NM. “Quality Improvement in Pediatrics-A Survival Guide for Residents”

153. Invited speaker, Tuberous Sclerosis Complex Educational Program for Novartis

Pharmaceuticals, May 22-23, 2018. Two presentations: “Tuberous Sclerosis Complex: Diagnosis, Surveillance and Management” (May 22nd) and “Tuberous Sclerosis Complex (TSC): Genetic Basis” (May 23rd)

154. Invited Speaker, Houston Rotary Club, May 24th, 2018. “TSC University of Texas-Memorial

Hermann TSC Center of Excellence TS Alliance Gold Standard Clinic”


156. Invited Speaker 2018 TSC World Conference, July 26-29, 2018, Dallas, TX. Four presentations: “Global Status of TSC and Consensus Guidelines for Diagnosis, Surveillance and Management” (July 27th); “Women’s Health Issues and Reproductive Decision Making for Young Adults” (July 27th); “Genetics, Reproductive Issues and Impact on Relationships” (July 28th), “Genetics Made Simple” (July 28th)

curriculum vitae name: present title · 1 august 2018 . curriculum vitae. name: hope northrup, m.d....

Documents