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    October 1996 October 1996 Document Transcript

    • February 2005 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 3.144 Houston, Texas 77030 UNDERGRADUATE EDUCATION: BS, College of Charleston, 1979, Charleston, South Carolina, Major: Biology GRADUATE EDUCATION: M.D., 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 Baylor College of Medicine, Houston, Texas ACADEMIC APPOINTMENTS: 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 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 1992 - Present Joint Appointment, Assistant Professor Department of Pathology, UTMS-H 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 1
    • LICENSURE: Texas State Board of Medical Examiners License # H4843 CERTIFICATION: American Academy of Pediatrics, 1988 American Board of Medical Genetics (Biochemical, Clinical, and Molecular), 1990 PROFESSIONAL ORGANIZATIONS: American Academy of Pediatrics American Society of Human Genetics Houston Pediatric Society American College of Medical Genetics, Founding Fellow Society for Pediatric Research, 1995 HONORS: Phi Kappa Phi Sigma Alpha Phi Foundation Scholar (1975-79) 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) 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 (1996-2003) Houston’s Best Doctors, Inside Houston (2002) GSBS Dean’s Excellence Award (1996, 1997, 1998, 1999, 2000, 2001, 2003) America's Top Doctors (2001, 2002, 2003, 2004) Manuel R. Gomez Professional Recognition Award (2003) SERVICE ON NATIONAL Professional Advisory Board of the GRANT REVIEW PANELS, National Tuberous Sclerosis Association, STUDY SECTIONS: 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-present 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 National Institutes of Health Special Study Section: Child Health Research Center Grants, April 1995 Ad Hoc Reviewer for NIH ELSI Study Section, Fall 2002 2
    • SERVICE ON COMMITTEES: Department of Pediatrics: Grand Rounds Committee, 1990 - 1998 Executive Steering Committee, 1993 – 1994; 2000 - Present Faculty Advisor for Resident Support Group, 1990 - 1995 Co-Chair Research Committee, 1993 - 1994 Research Committee Member, 1995 - Present Medical School: Faculty Senate, 1990 - 1993 UCRC Scientific Advisory Committee, 1992 - 1995 Alternate (Consultant) member, CPHS, 1996 – Present MSRDP Board of Directors, 2000 – 2003 Faculty Appointments, Promotions and Tenure Committee, 2001 – Present Chairperson, Session on Proteomics at the Medical School Basic Science Retreat, Feb. 28-March 1, 2003 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 Pathology Chair Search Committee, Summer - Fall 1996 Search Committee for Director, Institute for Molecular Medicine, July 1998 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 National: Chair, National Tuberous Sclerosis Association Meeting, October 1997 Co-Chair, Clinical Panel, International Tuberous Sclerosis Consortium, July 1998 American Council on Graduate Medical Education (ACGME) Residency Review Committee for Medical (RRC) Genetics, 1998-2004, elected Vice-Chairman 2001; Chairman 2001-2003 Executive Committee of the Section of Genetics And Birth Defects, American Academy of Pediatrics, November 1999 – 2005. SUPERVISORY COMMITTEES FOR GRADUATE STUDENTS: 3
    • 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 Patricia Zartman 1996 presentation Texas Genetic Society Meeting 1995) Noelle Romaine 1997 Michelle Strecker 1999 Betsy Clark-Gay 2001 Laura Valentine 2002 Masters Student Timothy J. Kirkpatrick 2003 Ph.D. Student Kelly A. Volcik 2001 Michelle Dewhurst 2003 CO-THESIS ADVISOR (Aimee J. Williams or Catherine L. Wicklund, Advisor): Specialized Masters Degree in Genetic Counseling Stephanie Manzo 2002 Jennifer Seifert 2002 Carolyn Wilson 2003 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 present Masters Degree Jonathan D. Stein 1995 Deborah Hogue 1999 Sarah Baume 2000 Stacia Vaughn 2000 Anna Carr 2000 Ph.D. Student Rachel McGuire 1997 Melanie Sohocki 1997 Kimberly Malone 2001 Sarah Bowne 2001 Magalie Leduc Present SUPERVISOR SUMMER MEDICAL 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) SUPERVISOR POSTDOCTORAL FELLOWS: 4
    • Joan Mastrobattista, M.D. 1994 Kit-Sing Au, Ph.D. 1995 Joseph A. Rodriguez, Ph.D. 1996 Verna Rose, M.D. 1998 Heather Prashner, M.D. 1997 Pamela Plotner, M.D. 2001 Neena Champaigne, M.D. Present Catherine Ward, M.D. Present CURRENT TEACHING Lecturer, Medical Genetics Course RESPONSIBILITIES: for Second Year Students Lecturer, Core Pediatrics Course for Third 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 and pediatric residents during months as Medical Genetics attending. CURRENT GRANT SUPPORT 1. Texas Department of Health, “Comprehensive Metropolitan and Outreach Genetic Services”. 9/1/04-8/31/05, $195,298. P.I.: Hope Northrup, M.D. 2. Tuberous Sclerosis Alliance, “Molecular Studies of Tuberous Sclerosis Complex (TSC) with Phenotypic Correlation”. 7/01/02-6/30/05, $245,948. P.I.: Hope Northrup, M.D. 3. Texas Scottish Rite Hospital, “Development of a Rapid Protocol to Detect TSC1 and TSC2 Gene Mutation”. 7/1/00-6/30/05, $190,000. P.I.: Hope Northrup, M.D. 4. Shriners Hospital for Children, “Neural Tube Defects: Genetic Factors”. 1/04-12/31/06, $608,169. P.I.: Hope Northrup, M.D. 5. National Institutes of Health Program Project - Project 1, "Molecular Genetic Studies of Neural Tube Defects". 4/04-3/09, $908,845. P.I.: Hope Northrup, M.D. (priority score 2.6%) 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. American Cancer Society Junior Faculty Research Award, JFRA-354, “Molecular Genetic Studies for Tuberous Sclerosis”. 7/1/91-6/30/94, $84,500. P.I.: Hope Northrup, M.D. 3. 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. P.I.: 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). 5. The Women’s Fund for Her, “The Role of TSC2 in Formation of Fibroids”. 1/1/96-12/31/97, $30,000. P.I.: Hope Northrup, M.D. 6. Texas Department of Health, “Comprehensive Genetic Services”. 9/1/96-8/31/97, $94,341. P.I.: Hope Northrup, M.D. 5
    • 7. Texas Department of Health, “Genetic Services: Metropolitan Houston and Outreach”. 1/1/96-8/31/97, $299,044. P.I.: Hope Northrup, M.D. 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. P.I.: Hope Northrup, M.D. 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. 9. National Institutes of Health First Award, “Cloning of the Tuberous Sclerosis Gene on Chromosome 9q”. 1/1/94-12/31/98, $517,914. P.I.: Hope Northrup, M.D. 10. National Tuberous Sclerosis Association, “Tuberin: Function, Dysfunction and Tumor Formation”. 12/1/96-11/30/99, $180,000. P.I. Hope Northrup, M.D. 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-P.I.: 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. P.I.: Hope Northrup, M.D. 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. P.I.: Hope Northrup, M.D. 14. Shriners Hospital for Children, “Neural Tube Defects: Epidemiologic and Genetic Factors”. 1/1/98-12/31/00, $288,133. P.I.: Hope Northrup, M.D. 15. Shriners Hospital for Children, “Neural Tube Defects: Genetic Factors”. 1/01-12/03, $338,768. P.I.: Hope Northrup, M.D. 16. Shriners Hospital for Children, “Genotype/Phenotype Correlations in Vitamin D Resistant Hypophosphatemic Rickets: Implications for Therapy”. 1/02 –12/02, $36,947. P.I.: Hope Northrup, M.D. 17. National Institutes of Health Program Project, Project 1, “Molecular Genetic Studies of Neural Tube Defects”. 3/20/98-2/28/03, $704,270. P.I.: Hope Northrup, M.D. (Priority score 3.2%). 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, Ph.D.), Sponsor: Hope Northrup, M.D. 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, Ph.D. Sponsor: Hope Northrup, M.D. 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, Ph.D. Sponsor: Hope Northrup, M.D. 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, M.D. 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, M.D. 6
    • PUBLICATIONS A. ABSTRACTS 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. 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. 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. 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. 8 th International Congress of Human Genetics. Am J Hum Genet, Supplement 49:1981, 1991. 12. Northrup H, Rodriguez Jr. E, Au K-S, Blanton SH: Linkage studies for the TSC-1 locus on chromosome 9q32-q34. Chromosome 9 and TSC Workshop, Cambridge, England, 1992. 13. Northrup H: Tuberous sclerosis: an example of a disease with genetic locus heterogeneity. 91 st Annual Meeting of the Japanese Dermatological Association, Tokyo, Japan, 1992. 14. 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. 15. 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. 16. 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. 7
    • 17. 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. 18. 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. 19. 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. 20. 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, 1994. 21. 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, 1994. 22. 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, 1994. 23. Northrup H, Mastrobattista JM, Dobyns WB, Blanton SH: Exclusion of cobblestone lissencephaly only (CLO) syndrome from chromosome 9q31-32. 4 th International Chromosome 9 Workshop, Colonial Williamsburg, VA, 1995. 24. 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. 25. 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. 26. 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. 27. 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. 28. 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. 29. 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. 30. Northrup, 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. 31. 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, 1996. 32. 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. 8
    • 33. 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. 34. 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. 46 th Annual Meeting of the American Society of Human Genetics, San Francisco, CA, October, 1996. 35. 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. 36. 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. 37. 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. 38. 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. 39. 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. 40. 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. 48 th Annual Meeting of the American Society of Human Genetics, Denver, CO, October, 1998. 41. 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. 42. 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. 43. 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. 44. Strecker MN, Tucker AJ, Bondy ML, Johnston DA, Northrup H: Knowledge and attitudes of Hispanic women and their health care providers about breast cancer. 49 th Annual Meeting of the American Society of Human Genetics, San Francisco, CA, October 1999. 45. 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. 46. 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. 47. 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. 9
    • 48. 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. 49. 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. 50. 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. 51. 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. 52. 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. 53. 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. 54. 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. 55. 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. 56. 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. 57. 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. 58. 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. 59. 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. 60. 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. 61. 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. 62. 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 10
    • Human Genetics. Toronto, Canada, October 2004. 63. 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. 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. 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, 11
    • 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. 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. 12
    • 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. 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. Northrup H, Au K-S: Tuberous Sclerosis Complex. GeneClinics: Medical Genetics Knowledge Base, http://www.geneclinics.org, 1999. 34. 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. 35. 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. 36. 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. 37. Northrup H, Volcik KA: Spina bifida and other neural tube defects. Current Problems in Pediatrics 30(10):313-340, 2000. 38. 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. 39. 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. 40. 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. 41. 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. 42. 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. 13
    • 43. 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. 44. 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. 45. 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. 46. 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. 47. Plotner PL, Smith JL, Northrup H: Deletion 12q: a second patient with 12q24.31q24.32 deletion. Amer J Med Genet 118A:350-352, 2003. 48. 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. 49. 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, 40(5):e56, 2004. 50. Fletcher JM, Copeland K, Frederick JA, Blaser SE, Kramer LA, Northrup H, Hannay J, Brandt ME, Francis DJ, Villarreal G, Drake JM, Laurent JP, Townsend I, Inwood S, Boudousquie A, Dennis M: Spinal lesion level in spina bifida meningomyelocele: a source of neural and cognitive heterogeneity. J Neurosurgery, In Review, 2004. 51. Seifert J, Northrup H, Johnston DA, Williams AT: An assessment of understanding in genetic counseling Hispanic patients. J Genetic Counseling, In Press, 2004. 52. Zhang Y-H, Huang B-L, Jialal I, Northrup H, McCabe ERB, Dipple KM: Asymptomatic isolated glycerol kinase mutations associated with splice-site mutations and nonsense mediated decay of mutant RNAs. Submitted, 2004. 53. Grinberg I, Northrup H, Ardinger H, Dobyns WB, Millen KJ: Heterozygous deletion of the linked ZIC1 and ZIC4 genes and Dandy-Walker malformation. Nat Genet 36(10):1053-1055, 2004. 54. 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. C. 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. 14
    • 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. 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. 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 Roach ES, Miller VS (Eds.) "Neurocutaneous Disorders". Cambridge University Press, Cambridge, UK, 2004. 5. Kirkpatrick TJ, Northrup H: Genetics of neural tube defects. IN "Encyclopedia of the Human Genome". In Press, 2004. 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”. Elsevier Academic Press, San Diego, CA, 2004. 7. Newborn Screening Fact Sheet for the American Academy of Pediatrics. H Northrup, Lead Author. Maple Syrup Urine Disease (MSUD)(Branched Chain Ketoaciduria), 2003. 8. Newborn Screening Fact Sheet for the American Academy of Pediatrics. H Northrup, Lead Author. Biotinidase Deficiency, 2003. 9. Newborn Screening Fact Sheet for the American Academy of Pediatrics. H Northrup, Lead Author. Medium Chain Acyl-CoA-Dehydrogenase (MCAD), 2003. F. OTHER PROFESSIONAL COMMUNICATIONS 1. Poster presentation: “Linkage Studies for Tuberous Sclerosis”. 40 th Annual Meeting, The American Society of Human Genetics, Baltimore, MD, November 1989. 2. Oral presentation: National Tuberous Sclerosis Workshop, Baltimore, MD, November 1989. 15
    • 3. Invited speaker: “Tuberous Sclerosis: Clinical and Genetic Studies”. Neurology Grand Rounds, University of Texas Medical School - Houston, TX, November 1989. 4. Invited participant: “Hypoglycemias of Infancy”. Pediatric Grand Rounds, University of Texas Medical School - Houston, TX, December 1989. 5. Poster presentation: “Tuberous Sclerosis and Allied Disorders”. New York Academy of Sciences Meeting, Bethesda, MD, April 1990. 6. Genetics Board Review Course, Houston, Texas, May 1990. 7. Invited participant: Panel Discussion: National Tuberous Sclerosis Workshop, Cincinnati, Ohio, October 1990. 8. Poster presentation: “Monozygotic Twins Discordant for Tuberous Sclerosis”. 41st Annual Meeting, American Society of Human Genetics, Cincinnati, Ohio, October 1990. 9. Invited participant: “TSC - Current Research”. Faculty - fellow Forum, Department of Pediatrics, University of Texas Medical School - Houston, TX, December 1990. 10. Invited speaker: “DNA Diagnostics”. Pediatric Grand Rounds, University of Texas Medical School - Houston, TX, January 1991. 11. Invited speaker: “Molecular Genetics”. Lake Jackson Combined Ob/Gyn and Pediatric Group, Spring, 1991. 12. Invited speaker: “DNA Diagnostics”. Pediatric Grand Rounds, M.D. Anderson Cancer Center. Spring, 1991. 13. Invited speaker: “Inborn Errors of Metabolism”. Pathology Grand Rounds, University of Texas Medical School - Houston, TX, July 1991. 14. Oral presentation: National Tuberous Sclerosis Association Workshop, Washington, D.C., October 1991. 15. Poster presentation: “Linkage Studies in Tuberous Sclerosis Using GT Repeat Polymorphisms”. 8th International Congress of Human Genetics, Washington, D.C., October 1991. 16. Short Course in Medical and Experimental Mammalian Genetics, Bar Harbor, Maine, 1991. 17. Poster presentation: “Linkage Studies for the TSC-1 Locus on Chromosome 9q32-q34”. 1 st International Chromosome 9 Workshop, Cambridge, England, March 1992. 18. 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. 19. Invited speaker: “Metabolic Disorders in the Neonate”. 3rd Annual Perinatal Conference, Houston, TX, June 1992. 20. Course Co-Director: “Tuberous Sclerosis: New Discoveries in a Syndrome of Genetic Origin”. 32 nd Annual Teratology Society Meeting, Boca Raton, FL, June 1992. 21. Invited speaker: “Tuberous Sclerosis Complex: Clinical and Genetic Aspects”. Pediatric Grand Rounds, University of Texas Medical School - Houston, TX, October 1992. 22. Poster presentation: “Linkage Studies of Tuberous Sclerosis Complex (TSC) to Markers on Chromosome 16113.3”. 42nd Annual Meeting of the American Society of Human Genetics, San Francisco, CA, November 1992. 16
    • 23. Invited speaker: “Genetic Aspects of Tuberous Sclerosis Complex”. National Tuberous Sclerosis Association Symposium, Dallas, TX, January 1993. 24. Poster presentation: “Displacement loop triplex affinity capture of sequence-specific high molecular weight (HMW) DNA for YAC cloning.” 43rd Annual Meeting of the American Society of Human Genetics, New Orleans, LA, October 1993. 25. Invited speaker: “Neurocutaneous Genetic Diseases”. Pediatric Nurse Practitioner’s Organization, Houston, TX, January 1994. 26. 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. 27. Poster presentation: “Collagen 5A1: Finer Mapping and Elimination as a Candidate Gene for TSC1”. 3rd International Chromosome 9 Workshop, Cambridge, England, April 1994. 28. 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. 29. Invited speaker: “Tuberous Sclerosis Complex: From Linkage Studies to Disease Gene”. Basic Science Conference, University of Texas Health Science Center at Houston, June 1994. 30. Invited speaker: “Mutations and a Polymorphism in the TSC2 Gene”. National Tuberous Sclerosis Association 20th Anniversary Symposium, Washington, D.C., October 1994. 31. Poster presentation: “Tuberous Sclerosis Complex: a Clinical Survey of 110 Patients”. National Tuberous Sclerosis Association 20th Anniversary Symposium, Washington, D.C., October 1994. 32. Poster presentation: “Mutations and a Polymorphism in the TSC2 Gene”. American Society of Human Genetics 44th Annual Meeting, Montreal, Canada, October 1994. 33. Invited speaker: “The Newborn Crash”. Houston Area Association of Neonatal Nurses Meeting, Houston, TX, October 1994. 34. American Medical Student Group Panel Discussion, January 1995. 35. Guest speaker: “Tuberous Sclerosis Complex (TSC)”. Graduate School Symposium, Houston, TX, January 1995. 36. Invited speaker: “Tuberous Sclerosis Complex (TSC)”. Texas Genetics Society, San Antonio, TX, February 1995. 37. Invited speaker: “Genetics of Tuberous Sclerosis”. National Tuberous Sclerosis Association, Dallas Tuberous Sclerosis Medical Education Conference, Dallas, TX, March 1995. 38. Poster presentation: “Exclusion of Cobblestone Lissencephly Only (CLO) Syndrome from Chromosome 9q31-32”. 4th International Chromosome 9 Workshop, Colonial Williamsburg, VA, April 1995. 39. Invited speaker: “Overview of Genetics”. Hemoglobinopathies Conference, Houston, TX, April 1995. 17
    • 40. Invited speaker: “Tuberous Sclerosis Complex (TSC): Genetic Aspects”. National Tuberous Sclerosis Association, Detroit Tuberous Sclerosis Medical Education Conference, Detroit, MI, June 1995. 41. Pathology Research Conference, Houston, TX, September 1995. 42. CPHS presentation. “Gene Therapy”. Houston, TX, September 1995. 43. PNP lecture. “Recognizing Metabolic Emergencies”. Houston, TX, October 1995. 44. Poster presentation: “Mutations of the Tuberous Sclerosis Complex 2 (TSC2) Gene in an Isolated Angiomyolipoma”. American Society of Human Genetics 45 th Annual Meeting, Minneapolis, MN, October 1995. 45. Ophthalmology Grand Rounds, University of Texas Medical School, Houston, TX, November 1995. 46. Poster presentation: “Linkage Studies of Walker-Warburg Syndrome (WWA) and Chromosome 9q31-32”. 5th International Chromosome 9 Workshop, Oxford, UK, September 1996. 47. Invited speaker: “TSC2 Mutational Analysis in a Cohort of 90 Probands”. TSC International Research Symposium, Bath, UK, September 1996. 48. Pediatric Grand Rounds, University of Texas Medical School, Houston, TX, September 24, 1996. 49. Invited speaker: “Tuberous Sclerosis Complex (TSC): Genetic Aspects”. 1st Canadian Tuberous Sclerosis Medical Education Conference, Toronto, Canada, October 1996. 50. Platform presentation: “TSC2 Mutations”. National Tuberous Sclerosis Association Workshop, San Francisco, CA, October 1996. 51. Poster presentation: “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. 52. Pathology Grand Rounds: “TSC2: Mutational Studies and Genotype/Phenotype Correlation”. University of Texas Medical School, Houston, TX, February 19, 1997. 53. 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. 54. Invited speaker: National Tuberous Sclerosis Board of Directors Meeting, Dallas, TX, June 1997. 55. Invited laboratory to participate in the National Youth Leadership Forum, July 1996, July 1997. 56. Chair, International Tuberous Sclerosis Workshop, Baltimore, MD, October 1997. 57. Senior Author, Platform presentation by Dr. Verna Rose (Genetics Fellow): “Gonadal Mosaicism in Tuberous Sclerosis”. 47th Annual American Society of Human Genetics Meeting, Baltimore, MD, October 1997. 58. Senior Author, Poster presentation: “A Severe Phenotype Resulting from a TSC2 Mutation Without Involvement of the PKD1 Gene”. 47th Annual American Society of Human Genetics Meeting, Baltimore, MD, October 1997. 59. Senior Author, Poster presentation: “A Genetic and Environmental Study of Spina Bifida by the Multisite Closure Model”. 47th Annual American Society of Human Genetics Meeting, Baltimore, MD, October 1997. 18
    • 60. Co-Organizer and Speaker, Advances in Neurogenetic Disorders and Tuberous Sclerosis Conference, Galveston, TX, April 1998. 61. Co-Chair, Clinical Panel, International Tuberous Sclerosis Consortium, Annapolis, MD, July 1998. 62. Invited speaker: Department of Human Genetics at UCLA Medical School Research Seminar Series. Los Angeles, CA, May 1999. 63. 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. 64. Pediatric Grand Rounds: “Tuberous Sclerosis Complex: Molecular Insights into Clinical Puzzles”. University of Texas – Houston Medical School, Houston, Texas, August 1999. 65. Invited speaker, Pediatric Grand Rounds: “Tuberous Sclerosis Complex: Molecular Insights into Clinical Puzzles”. University of Texas Medical Branch, Galveston, Texas, October 1999. 66. Poster presentation: “Typical Hispanic population with nontraditional barriers”. 49th Annual American Society of Human Genetics Meeting, San Francisco, CA, October 1999. 67. Poster presentation: “Knowledge and attitudes of Hispanic women and their health care providers about breast cancer”. 49th Annual American Society of Human Genetics Meeting, San Francisco, CA, October 1999. 68. Invited speaker, Ob/Gyn Grand Rounds: “ Research on spina bifida”. University of Texas – Houston Medical School, Houston, Texas, January 11, 2000. 69. Poster presentation: “Analysis of the C677T and A1298C mutations of the MTHFR gene as risk factors for spina bifida”. 49th Annual American Society of Human Genetics Meeting, San Francisco, CA, October 1999. 70. Invited speaker: Birth Defects Conference, Texas Department of Health, Houston, Texas, January 2000. 71. Invited speaker, Neurology Grand Rounds: “Tuberous Sclerosis Complex: Molecular Insights into Clinical Puzzles”. University of Texas – Houston Medical School, Houston, Texas, July 2000. 72. Poster presentation: “Testing for genetic associations of the PAX genes in a spina bifida population”. 50th Annual American Society of Human Genetics Meeting, Philadelphia, PA, October 2000. 73. Poster presentation: “X-linked cerebellar atrophy and mental retardation: a new syndrome”. 50th Annual American Society of Human Genetics Meeting, Philadelphia, PA, October 2000. 74. 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. 75. Poster presentation: “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. 76. Poster presentation: “Argininemia: A prospective study and two cases”. 51 st Annual Meeting of the American Society of Human Genetics, San Diego, CA, October 2001. 77. Poster presentation: “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. 19
    • 78. Poster presentation: “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. 79. 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. 80. 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. 81. Poster presentation: " Mutation detection rates and organ system involvement in tuberous sclerosis complex". 52nd Annual Meeting of the American Society of Human Genetics, Baltimore, MD, October 2002. 82. Poster presentation: "Comparison of direct sequencing to other mutation detection methods for the TSC1 and TSC2 genes". 52nd Annual Meeting of the American Society of Human Genetics, Baltimore, MD, October 2002. 83. Poster presentation: "Candidate gene studies for linkage and genetic association to spina bifida in Hispanic and non-Hispanic white populations in North America". 52nd Annual Meeting of the American Society of Human Genetics, Baltimore, MD, October 2002. 84. Poster presentation: "Genotype/phenotype correlations in X-linked hypophosphatemic rickets". 52nd Annual Meeting of the American Society of Human Genetics, Baltimore, MD, October 2002. 85. Pediatric Grand Rounds: "The Metabolic Crash". Driscoll Children's Hospital, Corpus Christi, TX, November 2002. 86. Invited Speaker: “Spina Bifida: A Common, Complex Birth Defect”. Texas Children’s Hospital, 2003. 87. Poster presentation: “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. 88. Poster presentation: “Genotype/phenotype correlations in familial tuberous sclerosis cases”. 53rd Annual Meeting of the American Society of Human Genetics. Los Angeles, CA, November 2003. 89. Poster Presentation: “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. 90. Platform Presentation: “Further Delineation of Genotype-Phenotype Correlations in Tuberous Sclerosis Complex”. 54th Annual Meeting of the American Society of Human Genetics. Toronto, Canada, October 2004. 91. Poster Presentation: “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. 20