La Dottoressa Laura Davis Keppen si è occupata di studi e ricerche inerenti la Sindrome di Keppen-Lubinsky (da cui prende nome) prendendo in cura un bimbo nato nello Stato dell’Iowa (USA) nel 1994 affetto da tale patologia. Di seguito pubblichiamo un Curriculum attestante l’impegno professionale e scientifico, oltre che umano, della dottoressa. Alla dottoressa Keppen và l’affetto è la riconoscenza di Daniele.
Laura Davis Keppen, M.D.
Sanford Children’s Specialty Clinic
1600 W. 22nd Street
P.O. Box 5039
Sioux Falls, SD 57117-5039
Phone: (605) 312-1000
Fax: (605) 312-1001
High School: Washington High School, Sioux Falls, SD, Sept. 1969 – May 1972 (Valedictorian)
College: Cornell University, Ithaca, New York, September 1972 – May 1975
Degree: B.S. with Honors in Human Nutrition, 1975
Medical or Graduate School: University of South Dakota School of Medicine, August 1975 – May 1979
Degree: M.D. Graduate in 1979 (Magna Cum Laude, Valedictorian)
Residencies or Post-Doctoral Training:
Pediatric Internship: University of Oklahoma Health Sciences Center, July 1979 – June 1980
Residency in Pediatrics: University of Oklahoma Health Sciences Center, July 1980 – June 1982
Fellowship: Pediatric Genetics, Endocrinology, and Metabolism,
University of Oklahoma Health Sciences Center, July 1982 – June 1984
1. National Board of Medical Examiners, 1980
2. American Board of Pediatrics, 1984
3. American Board of Medical Genetics, 1984
4. American Board of Pediatric Endocrinology, 1986
1. Cornell Scholar, 1972
2. Pathology Award, 1977
3. Alpha Omega Alpha, 1978
4. Upjohn Achievement Award, 1979
5. Janet M. Glasgow Award for graduating first in her medical school class, 1979
6. Ruth Rader Memorial Fellowship, 1982, OUHSC Outstanding Housestaff
7. Young Investigator Award, 2nd place, Southern Society for Pediatric Research
8. Best Paper in Pediatrics Award, 30th Annual Meeting, Oklahoma Association of House Staff, Physicians, May 18, 1984
9. Visiting Professors’ Award, 30th Annual Meeting, Oklahoma Association of House Staff, Physicians, May 18, 1984
10. Red Sash Award for Outstanding Teaching, 1988
11. “Top Pediatrician” Consumer Research Council of America 2005, 2006, 2007.
12. Alumni Leadership Award from USD School of Medicine, 2006.
1. Professor, Department of Pediatrics, USD School of Medicine, Sioux Falls, SD, July 1996 – present
2. Section Head of Pediatric Endocrinology, January 1995 – present
3. Section Head of Pediatric Genetics, 1990-present.
4. Newborn Screening Consultant, South Dakota Department of Health, September 1990 – present
5. SD LEND Program Discipline Head, 1998 – present
6. Associate Professor, Department of Pediatrics, USD School of Medicine, Sioux Falls, SD, September 1990 – June 1995
7. Co-Director of Arkansas Genetics Program, University of Arkansas for Medical Sciences, July 1986 – June 1990
8. Medical Consultant, Arkansas Children’s Hospital, Cytogenetics Laboratory, July 1986 – June 1990
9. Section Head of Pediatric Genetics, University of Arkansas for Medical Sciences, July 1, 1986 – June 1990
10. Assistant Professor of Pediatrics, University of Arkansas for Medical Sciences, August 1, 1984 – September 1990.
11. Scientific Council, Association of Clinical Scientists, 2002 – present.
Society and Medical Association Memberships:
1. Alpha Omega Alpha, Councillor, 1999 – 2002
2. Alpha Omega Alpha, Vice President, 1994 – 1999, 2003 – present
3. American Academy of Pediatrics, Sections of Endocrinology and Genetics
4. American Society of Human Genetics
5. Southern Society for Pediatric Research, 1984 – 1990
6. Great Plains Clinical Genetics Society (Board 1992-1994, 1995-1998, President 1998-1999)
7. American Diabetes Association, 1990 – present
8. The Lawson Wilkins Pediatric Endocrine Society, 1992 – present
9. Board, USD Alumi Foundation, 1991 – 1999, President 1998 – 1999
10. Executive Board, USD Foundation Trustees, 1998 – 2000.
11. Association of Clinical Scientists, 2000 – present
Teaching Experience/Clinical Teaching:
Pediatric Junior Clerkship-lectures, ward attending, clinic-Sanford School of Medicine 1990-present.
Course Director for 18 hour course in Human Genetics, 1986 – 1990, UAMS
Junior Medical Student Pediatric Lectures, 8 per year, 1984 – 1990, UAMS
Pediatric Resident Genetics Lectures, 6 per year, 1984 – 1990, UAMS
Pediatric Grand Rounds once per year, 1984 – 2006
Pediatric Physical Diagnosis – 1 session per year, 1990 – 2004
Ethics Course, 1991 – 1994
Student Advisor, 1991 – present
1. Central Arkansas March of Dimes Professional Advisory Committee, 1985 – 1990
2. Bioethics Committee, Arkansas Children’s Hospital, 1986 – 1990
3. Diagnostic Criteria, Screening and Follow-up Committee, National Neurofibromatosis Foundation, 1986 – 1990
4. Executive Committee – Great Plains Clinical Genetics Network, 1988 – 1990, 1997 – 1999
5. Associate Director Arkansas Reproductive Health Monitoring System Technical Advisory Board, AHRMS, 1986 – 1990
6. Newborn Screening Committee, Great Plains Clinical Genetics Network, 1990 – 1997
7. Pharmacy and Therapeutics Committee, Sioux Valley Hospital, 1992 – 1999
8. Search Committee, Executive Director, University Affiliated Program, 1993
9. Faculty Development Committee, 1994 – 1997
10. Student Financial Aid and Scholarship Committee, 1995 – 1999
11. Faculty Council, University of South Dakota School of Medicine, 1999 – 2002
12. State Folic Acid Council, 2000 – 2002.
13. SD FAS Statewide Advisory Sub-Committee, 2001 – present.
14. South Dakota FAS Advisory Committee, 2004 – 4004.
15. Student Financial Aid Committee, 2007-2010.
16. Promotions and Tenure Committee, 2007-2010.
17. Sanford Project Search Committee 2008-present.
1. Reviewer, American Family Physician
2. Reviewer, American Journal of Medical Genetics
3. Reviewer, Clinical Genetics
4. Reviewer, Annals of Clinical & Laboratory Science.
5. Review, Pediatrics
1. Health Professional Advisory Committee, SD Chapter of March of Dimes, 1992 – 2004.
2. Board, Association of Retarded Citizens, 1992 – 1995
1. Board, Parent to Parent 1992 – 1997
2. Central Arkansas March of Dimes Professional Advisory Committee, 1985 – 1990
3. CME Board, Charter Hospital, 1990 – 1992
4. Youth Services Committee, American Diabetes Association
5. Physician volunteer for diabetes camp, 1991 – present.
6. Diabetes Care AD hoc Committee, Department of Health, 1995 – present
7. Board of Directors, Cosmopolitan Fund for Children, 1997 – present
8. Board, Northern Plains Chapter National Neurofibromatosis Foundation, 1998 – 2002.
9. Newborn Metabolic Screening Workgroup for South Dakota, 2000 -
Avera McKennan Hospital
Children’s Care Hospital & School
Sioux Falls Surgical Center, L.L.P.
1. Pilot Study Grant, UAMS, “The Role of Zinc Nutrition in Fetal Alcohol Syndrome” – Funded $5,000, 1984 – 1985
2. Basil O’Connor Starter Research Grant, “Zinc Nutrition in Fetal Alcohol Syndrome” – 1985 – 1997, Approved but not funded
3. Co-Director, Genetic Diseases and Testing Project, SPRANS, 1986 – 1987, $253,840
4. March of Dimes, Central Division, “Teratogen Services”, 1987, $4,560
5. Maternal and Child Health Supplemental Grant, 1988, “Arkansas Newborn Sickle Cell Screening Program”, $256,036 funded, Arkansas Department of Health, principle investigator; $51,190 to Pediatric Genetics in salary support ($34,565 1988 – 1989, $16,652 1989 – 1990)
6. Arkansas Indigent Health Care Advisory Council, “Arkansas Genetics Services Proposal”, Funded $846,275, January 1990 – June 30, 1991
7. Diabetes Prevention Trial Type 1, 1994 – present, $15,000/year
8. Growtrack, Genentech, 1990 – present, $7,200/year
9. Humabase State Computer Pilot project, $31,460
10. Cosmopolitan Fund for Children, 1995 – present, $100,000
11. US Collaborative Project Growth Hormone Therapy, $19,000/year
12. KIGS Study Protocol (International Growth Study).
13. A Phase II Open-Label Clinical Study of the Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) Enzyme Replacement Therapy in Patients with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)
14. Diabetes Type I TrialNet – Principal Investigator Affiliate Site – National Institute of Diabetes & Digestive & Kidney Diseases.
1. Gilmore HT, Keppen LD: Premature Labor: Diagnosis and Treatment. S D J Med 31(4):5-7, April 1978.
2. Keppen LD, Rennert OM: Silver-Russell Syndrome with Absence of Digits and Syndactylism of the Finger. Clin Genet 24(6): 453-455, December 1983.
3. Keppen LD, Pysher T, Rennert OM: Zinc Deficiency Acts as a Co-Teratogen with Alcohol in Fetal Alcohol Syndrome. Pediatr Res 19(9): 944-947, September 1985.
4. Wiggins PA, Keppen L: Nutrition Management of a Critically Ill Infant with Maple Syrup Urine Disease. Nutrition in Clinical Practice, 296-299, 1986.
5. Keppen LD, Husain MM, Woody RC: X-linked Myotubular Myopathy: Intrafamilial Variability and Normal Muscle Biopsy in a Heterozygous Female. Clin Genet 32(2): 95-99, August 1987.
6. Keppen LD, Leppert MF, Lalouel JM, O’Connell P, Nakamura Y, White RL, Stauffer D, Lathrop M: Etiological Heterogeneity in X-linked Spastic Paraplegia. Am J Hum Genet 41(5): 933-943, November 1987.
7. Keppen LD, Fasules JW, Burks AW, Gollin SM, Miller CH: Confirmation of Autosomal Dominant Transmission of the DiGeorge Malformation Complex. J Pediatr 113(3): 506-508, September 1988.
8. Edwards DR, Keppen LD, Ranells JD, Gollin SM: Autism in Association with Fragile X Syndrome in Females: Implications for Diagnosis and Treatment in Children. Neurotoxicology 9(3):359-365, Fall 1988.
9. Keppen LD, Familial Spastic Paraplegia, Birth Defects Encyclopedia, Center for Birth Defects Information Services, Inc., 1990.
10. Keppen LD, Brodsky MC, Michaels JM, Poindexter AR: Hypogonadotropic Hypogonadism in Mentally Retarded Adults with Microphthalmia and Clinical Anophtalmia. Am J Med Genetics, 36(3): 285-287, July 1990.
11. Brodsky MC, Keppen LD, Rice CD, Ranells JD: Ocular and Systemic Findings in the Aarskog (Facial-Digital-Genital) Syndrome, Am J Ophthalmology 109(4): 450-456, April 15, 1990.
12. Brodsky MC, Keppen LD, Glasier CM, Harper RA: Anophthalmia in Delleman Syndrome, Am J Med Genetics, 37(1): 157-158, September 1990.
13. Keppen LD, Moore DJ, Cannon DJ: The Role of Zinc Nutrition in Fetal Alcohol Syndrome. Neurotoxicology, 11(2): 375-380, Summer 1990.
14. Keppen LD, Gollin SM, Seibert JJ, Sisken JE: Roberts Syndrome with Normal Cell Division: A Case Report, Am J Med Genetics, 38(1): 21-24, January 1991.
15. Keppen LD, Gollin SM, Edwards D, Sawyer J, Wilson W, Overhauser J: Clinical Phenotype and Molecular Analysis of a Three-Generation Family with an Interstitial Deletion of the Short Arm of Chromosome 5; Am J Med Genetics; 44(3): 356-360, October 1, 1992.
16. Johnson VP, Altherr MR, Blake JM, Keppen LD: FISH detection of Wolf-Hirschhorn Syndrome: exclusion of D4F26 as critical site; Am J Med Genetics: 52(1): 70-74, August 1, 1994.
17. Boghosian-Sell L, Mewar R, Harrison W, Shapiro RM, Zackai EH, Carey J, Keppen LD, Hudgins L, Overhauser J: Molecular mapping of the Edwards Syndrome phenotype to two non-contiguous regions on chromosome 18; Am J Hum Genet, 55: 476-483, 1994.
18. Cambi F, Tang XM, Cordray P, Fain PR, Keppen LD, Barker DF: Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. Neurology, 46(4): 1112-1117, April 1996.
19. Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen LD, Schanen C, Tint GS, Salen G: Treatment of Smith-Lemli Opitz Syndrome: Results of a Multicenter Trial. American Journal of Medical Genetics, 68(3): 311-314, January 31, 1997.
20. Johnson VP, Keppen LD, Carpenter MS, Randall BB, Newby PE: New Syndrome of Spondylospinal Thoracic Dysostosis with Multiple Pterygia and Arthrogryposis, American Journal of Medical Genetics, 69(1): 73-78, March 3, 1997.
21. Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen LD, Koob KG, Lupski JR: Mutations in the early growth response 2 (EGR2) transcription factor are associated with hereditary myelinopathies, Nature Genetics, 18(4): 382-384, April 1998.
22. Kulharya AS, Garcia-Heras J, Radtke HB, Norris KS, Keppen LD, Flannery DB: Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker, Clinical Genetics, 54(5): 421-5, November 1998.
23. Keppen LD, Randall B: Inborn Defects of Fatty Acid Oxidation; A Preventable Cause of SIDS, South Dakota Journal of Medicine, 52(6): 187-188, June 1999.
24. Stein Q, Keppen L, Watson W: Preventing Birth Defects With Folic Acid, South Dakota Journal of Medicine, 55 (9): 389-391, September 2002.
25. “Medical Home Children With Special Health Care Needs” Every Child Deserves a Medical Home, American Academy of Pediatrics, July 2003, contributor.
26. Adam MP, Hennekam R CM, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme HE: Marshall-Smith Syndrome: Natural History And Evidence Of An Osteochondrodysplasia With Connective Tissue Abnormalities, Am J Medical Genetics, Part A. 137 (2) 117-124, 2005 Aug 30.
27. Paul Harmatz, David Ketteridge, Roberto Giugliani, Natalie Guffon, Elisa Leao Teles, M. Clara Sa Miranda, Zi-Fan Yu, Stuart J. Swiedler, John J. Hopwood and for the MPS VI Study Group (includes Keppen, LD) : Direct Comparison of Measures of Endurance, Mobility, and Joint Function During Enzyme-Replacement Therapy of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Results After 48 Weeks in a Phase 2 Open-Label Clinical Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase, Pediatrics, 2005; 115; 681 – 689.
28. Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund A, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJA, Ruiter JPN, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS: Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening. Pediatric Research 2006: 60:315-320.
29. Oglesbee D, He M, Majunder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, MD, Matern D: Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-COA dehydrogenase deficiency. Genetics In Medicine, February 2007 Vol.9 No. 2 108-116.
30. Mello AL, Crotwell PL, Flanagan JD, Woltanski AR, Keppen LD, Van Eerden P, Boyle, JG, Stein Q: Clinical Course of a 20-Month-Old Child Diagnosed Prenatally with Mosaic Ring Chromosome 18 and Monosomy 18. South Dakota Journal Of Medicine, Sept. 2008 Vol 61 No. 9; 327-331.
31 Stein QP, Boyle JH, Crowell PL, Flanagan JD, Johnson KJ, Davis-Keppen L, Van Errden P, Woltanski AR, Watson WJ: Prenatally Diagnosed Trisomy 20 Mosaicism Associated with Arachnoid Cyst of Basal Cistern. Accepted Prenatal Diagnosis, 2008.
32 Bettett C, Bundak R, Turkkahrman D, Stanik J, Massoud A, Engelsberger I, Jones J, Verma IC, guran T, Jabeh J, Jagadeesh S, Ozhan B, Schaaf K, Arabi H, Albalwi M, Davis-Keppen L: Homozygosity Mapping as a Novel Tool to Identify Patients with Wolcott-Rallison Syndrome among Infants with Permanent Neonatal Diabetes. Submitted, 2009.
1. Oesterheld JR, Keppen LD: Hyperphenylalaninemias and ADHD. Developmental and Behavioral Pediatrics, 20(1): 72, February 1999.
1. Muneer RS, Keppen LD, Rennert OM: DiGeorge Syndrome Phenotype and Mosaic Karyotype with Double Isochromosomes of (18P) and (18q). Pediatr Res 17(4): 216A, 1983.
2. Muneer RS, Einfeldt SE, Keppen LD, Himes JR, Rennert OM: A Unique Combination of Monosomy 4P and Trisomy 18q Syndromes. Am J Hum Genet 35(6): 145A, 1983.
3. Keppen L, Pysher T, Rennert O: Teratogenic Effects of Alcohol are Potentiate by Zinc Deficiency. Clin Res 31( 5): 893A, 1983.
4. Muneer R, Sarale D, Keppen L, Rennert O: Familial Partial Trisomy of Different Segments of Chromosome 6p and Choanal Atresia in Two Female Infants. Am J Hum Genet 36(4):311A, 1984.
5. Keppen LD, Pysher T, Rennert O: Zinc Deficiency Potentiates Ethanol Embryopathy. Pediatr Res 19(4): 1298A, 1985.
6. Payne Howell RM, Muneer RS, Einfeldt SE, Thompson L, Keppen LD: A Femal with Inverted Insertion in Chromosome 9. Am J Hum Genet 37(4): A111, July 1985.
7. Keppen LD, Rennert O, Pysher T: Zinc Deficiency Increases the Teratogenic Activity of Alcohol. J of Clinical Dysmorphology, 1985.
8. Keppen LD: X-Linked Spastic Paraplegia with Early Onset and Ataxia, J of Clinical Dysmorphology, 1985.
9. Keppen L: Familial Spastic Paraplegia with X-linked Inheritance. Clin Res 34(1): 242A, 1986.
10. Keppen L, Cannon DJ, Moore DJ: Role of Dietary Zinc Content in Alcohol Embryopathy in Mice. Clin Res 34(1): 234A, 1986.
11. Quirk JG, Hill D, Keppen LD, Char F, Brewster M, Butler B, Hawks F, Hukill M, Mattison DR: Teratology and Information and Counseling in a Rural State. Teratology, 1986.
12. Butler BB, Hill DE, Keppen LD, Quirk JG: Genetic Services in Arkansas; Opportunities Past, Present, and Future. The 114th Annual Meeting of the American Public Health Association, Las Vegas, Nevada, 1986.
13. Keppen LD, Hussain M, Woody RC: X-Linked Myotubular Myopathy with Intrafamilial Variability and Normal Muscle Biopsy in a Definite Female Carrier. Am J Med Genetics 25(4): 17A, 1986.
14. Keppen LD, Williamson S, Char F: Fetal Akinesia Sequence with Kniest Dysplasia. Am J Med Genetics 25(4): 41A, 1986.
15. Keppen LD, Poindexter AR, Michaels JM, Otovo E: Microphthalmia in an Institution for the Mentally Retarded: Association with Hypogonadotropic Hypogonadism. The 1987 Proceedings of the Greenwood Genetics Center.
16. Edwards DR, Keppen LD, Gollin SM: Autism and Fragile X Syndrome. Clin Res 35(A): 60A, 1987.
17. Quirk JG, Miller C, Harbison R, Butler B, Keppen L: Maternal Serum Alpha-fetoprotein (MSAFP) Screening for Fetal Aneuploidy. Soc For Gynec Invest, 1987.
18. Keppen LD, Leppert M, Lalouel JM, O’Connell P, Nakamura Y, White RL: Heterogeneity in X-Linked Spastic Paraplegia. Ped Res 21(4): 337A, 1987.
19. Butler BB, Quirk JG, Keppen LD, Miller CH: Funding and Marketing MSAFP: The successful Experience of a Rural State. Conference proceedings, “The Challenge to Provide Genetics Services”, 1987.
20. Keppen LD, Fasules J, Burks W, Miller C: Autosomal Dominant Transmission of DiGeorge Malformation Complex . Am J Hum Genet, 41(3): 585A, 1987.
21. Butler BB, Quirk JG, Keppen LD, Miller CH: A Personal Computer for Maternal Serum Alpha-fetoprotein Screening Program. Am Soc Hum Genet 4(3): 798A, 1987.
22. Keppen LD, Poindexter AR, Michaels JM, Otovo E: Association of Bilateral Microphthalmia with Hypogonadotropic Hypogonadism. Clin Res 36(1): 58A, 1988.
23. Brewster M, Jelovsek F, Mattison D, Quirk J, Keppen L, Ranells J, Taylor B: Adverse Reproductive Outcome Monitoring: Protocols for Analyzing Population-Based Data. Proc. Soc. Occupational and Environmental Health, 1988.
24. Keppen LD, Char F, Scott CI: A New Skeletal Dysplasia with Severe Short Stature, Limitation of Hand Mobility and Thick Subcutaneous Tissue. Am J Med Genetics 34(1): 141, 27A, 1989,
25. Kiel EA, Readinger RI, Keppen LD, Char F: Aortic Root Dimensions in Pediatric Marfan Patients. Am J Med Genetics 32(2): 240, 5A, 1989.
26. Char F, Poindexter A, Keppen L: A 24-Year-Old with the Rubinstein-Taybi Syndrome. Submitted to the 1988 David Smith Meeting.
27. Butler BB, Murphy P, Alderson EA, Hawks FF, Miller CH, Keppen LD, Quirk JG: Prenatal Diagnosis: Evolution of Services in A Small Rural State. Am J Hum Genetics 45(4): 1085A, 1989.
28. Keppen LD, Moore DJ, Cannon DJ: The Role of Zinc Nutrition in Fetal Alcohol Syndrome, Presented at the 1989 International NeuroToxicology Conference, Little Rock, AR.
29. Ranells JD, Keppen LD: Gastrointestinal Perforations in an Infant with Congenital Contractual Arachnodactyly, Submitted to the 1990 March of Dimes Clinical Genetics Conference.
30. Keppen LD: Clinical Phenotype and Molecular Analyses of a 3 Generation Family with an Interstitial Deletion of the Short Arm of Chromosome 5, Presented at the 1991 March of Dimes Clinical Genetics Conference.
31. Keppen LD, Fain PR, Barker DF: Linkage Studies of a Large Pedigree with X-Linked Spastic Paraplegia, Am J Med Genetics 52(3): 388, E8A, 1994.
32. Keppen LD, Matusik MC, Johnson VP: Marshall-Smith Syndrome with Prolonged Survival and Elevated 17-Hydroxyprogesterone, Am J Med Genetics 52(3): 391, 59A, 1994.
33. Cambi F, Tang XM, Cordray P, Fain PR, Keppen L, Barker D: Linkage of Pure X-Linked Spastic Paraplegia to Xq22 In Two Pedigrees, 47th Annual Meeting of the American Academy of Neurology, 1995.
34. Keppen LD, Barker DF, Fain PR, Cordray P, Tang XM, Cambi F: Clinical “Pure” Hereditary Spastic Paraplegia is caused by a Mutation in the proteolipid gene, 2nd Joint Clinical Genetics Meeting, March 7-8, 1995.
35. Irons M, Elias E, Nwokoro NA, Mulvihill JJ, Bull MJ, Keppen L: Fat-soluble vitamins in the Smith-Lemli-Opitz (SLO) syndrome, 2nd Joint Clinical Genetics Meeting, March 7-8, 1995.
36. Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G: Treatment of Smith-Lemli-Opitz syndrome (SLOS): Results of a multicenter trial, American Journal of Human Genetics, Volume 57, October 1995.
37. Johnson VP, Keppen LD, Carpenter MS, Newby P: A New Syndrome of Spondylothoracic Dysplasia, Great Lakes Regional Genetics Group and Great Plains Clinical Genetics Society Annual Meeting, March 28-30, 1996.
38. Wallace MR, Trimpert R, Nwokoro N, Arn P, Williams C, Keppen L, Elias E, Abuelo D, Kelley R: DHCR7 Mutation Analysis in Smith-Lemli-Opitz syndrome (SLOS), Am J Hum Genetics 65(4): A497; 2831, October 1999.
39. McAndrew PE, Keppen LD, Kaler SG: Rapid Mutational Screening of the Menkes/Occipital Horn Syndrome Locus, Am J Hum Genetics 65(4): A405; 2291, October 1999.
40. P Harmatz, D Ketteridge, R Steiner, J Simon, J Waterson, S Oates, R Giugliani, I Schwartz, N Guffon, C Sa Miranda, L Keppen, E Leao Teles, and J Hopwood: A Phase II Open-Label Clinical Study of Efficacy and Safety of Recombinant Human N-Acetylgalactosamine 4-Sulfatase (rhASB) Enzyme Replacement Therapy in Patients with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome), Am J Hum Genetics 73(5), 623, November 2003.
41. P. Harmatz, R. Giugliani, I. Schwartz, A. C. Azevedo, N. Guffon, C. Sa Miranda, E. Teles, E. Wraith, M. Beck, Y. Amraoui, L. Arash, C. Whitley, R. Steiner, B. Plecko, P. Kaplan, J. Waterson, E. Gizzi, D. Ketteridge, L. Keppen and J. Hopwood: Update On Clinical Trial Results In MPS VI, 2004.
42. P. Mancias, K Szigeti, W. Wiszniewski, G.M. Saifi, G. Miller, L. Keppen, D. L. Daentl, J.R. Lupski: CMT caused by EGR2 mutations: a natural history study of 10 patients, Am J Hum Genetics 2447, 2005.
43. W. Wiszniewski, K. Szigeti, P. Mancias, G.M. Saifi, G. Miller, L. Keppen, D. Daentl, J.R. Lupski: EGR2 mutations: a natural history study of 10 patients and functional analysis of neuropathy associated alleles.
1. Diabetes Update – Diabetes Beat, Summer 2003.
2. GLUCOGAMES: A Fun Incentive for Diabetes Management – Diabetes Incorporated.
Presentations at Professional Meetings:
1. Teratogenic Effects of Alcohol are Potentiated by Zinc Deficiency. Southern Society for Pediatric Research, New Orleans, Louisiana, January 19, 1984.
2. Zinc Deficiency as a Co-Teratogen with Alcohol in Fetal Alcohol Syndrome. 30th Annual Meeting of House Staff Physicians, Oklahoma City, Oklahoma, May 18, 1984.
3. Zinc Deficiency Increases the Teratogenic Activity of Alcohol, Birth Defects and Clinical Genetics Society, Boston, Massachusetts, May 29, 1985.
4. X-Linked Spastic Paraplegia with Early Onset and Ataxia. Birth Defects and Clinical Genetics Society, Boston, Massachusetts, May 29, 1985.
5. Familial Spastic Paraplegia with X-Linked Inheritance. Southern Society for Pediatric Research, New Orleans, Louisiana, February 6, 1986.
6. Role of Dietary Zinc Content in Alcohol Embryopathy in Mice. Southern Society for Pediatric Research, New Orleans, Louisiana, February 6, 1986.
7. Fetal Akinesia Sequence with Kniest Dysplasia. Clinical Genetics Conference, Philadelphia, Pennsylvania, June 9, 1986.
8. X-Linked Myotubular Myopathy with Intrafamilial Variability and Normal Muscle Biopsy in a Definite Female Carrier. Clinical Genetics Conference, Philadelphia, Pennsylvania, June 10, 1986.
9. Microphthalmia in an Institution for the Mentally Retarded: Association with Hypogonadotropic Hypogonadism. David W. Smith Workshop on Malformations and Morphogenesis, Burlington, Vermont, August 13, 1986.
10. Autosomal Dominant Transmission of the DiGeorge Malformation Complex. American Society of Human Genetics, San Diego, California, October 7, 1987.
11. Association of Bilateral Microphthalmia with Hypogonadotropic Hypogonadism. Southern Society for Human Genetics, San Diego, California, October 7, 1987.
12. A New Skeletal Dysplasia with Severe Short Stature, Limitation of Hand Mobility and Severe Short Stature. Clinical Genetics Conference, Baltimore, Maryland, July 11, 1988.
13. The Role of Zinc Nutrition in Fetal Alcohol Syndrome, Seventh International NeuroToxicology Conference, Little Rock, Arkansas, September 20, 1989.
14. Genetics Update 1991, University of Oklahoma for Medical Sciences, Oklahoma City, Oklahoma, June 6, 1991.
15. Clinical Phenotype and Molecular Analyses of a 3 Generation Family with an Interstitial Deletion of the Short Arm Chromosome 5, Clinical Genetics Conference, Vancouver, British Columbia, July 8, 1991.
16. Fetal Alcohol Syndrome and Alcohol Related Developmental Disabilities, 23rd Annual Conference of the Great Plains Organization, Minneapolis, Minnesota, May 18 1993.
17. Non-traditional Inheritance in Genetics, 16th Annual Black Hills Seminar on Advances in Clinical Pediatrics, Lead, South Dakota, June 16, 1993.
18. Linkage Studies of a Large Pedigree with X-Linked Spastic Paraplegia, American College of Medical Genetics, Orlando, Florida, March 16, 1994.
19. Marshall-Smith Syndrome with Prolonged Survival and Elevated 17-Hydroxyprogesterone, American College of Medical Genetics, Orlando, Florida, March 17, 1994.
20. Clinical “Pure” Hereditary spastic paraplegia is caused by a mutation in the proteolipid gene, American College of Medical Genetics, Los Angeles, California, March 1995.
21. “A New Syndrome of Spondylospinal Thoracic Dysostosis and Arthrogryposis”, Great Plains Clinic Genetics Meeting, Kansas City, Missouri, March 29, 1996.
22. “Newborn Screening”, Great Plains Clinical Genetics Meeting, Sioux Falls, South Dakota, March 27, 1999.
1. National Institute of Health, Centers and Special Projects Review Branch.
2. Site visit, Comprehensive Sickle Cell Disease Center, University of California at San Francisco, 1987.