Faculty
Associate professor of pediatrics Interim division chief Division of Genetics and Metabolic Disorders Assistant program director, Frederic C. Bartter General Clinical Research Center The Chromosome 18 Clinical Research Center Office phone: 210-567-9220 Lab phone: 210-567-5321 Office fax: 210-567-0492 Education: Ph.D., human genetics, University of Texas Health Science Center, San Antonio, 1997 M.S., biology, University of Iowa, 1978 B.S., general science, University of Iowa, 1976 A.A., general science, Grand View College Training: Fellowship, human genetics, University of Texas Health Science Center, San Antonio, 1997-99 Recent publications: Cody JD, Sebold C, Malik A, Heard P, Carter E, Crandall A, Soileau B, Semrud-Clikeman M, Cody CM, Hardies LJ, Li J, Lancaster J, Fox PT, Stratton RF, Perry B, Hale DE. Recurrent Interstitial Deletions of Proximal 18q: A New Syndrome Involving Expressive Speech Delay Am. J Med Genet 2007;143A:1181-1190. Semrud-Clikeman M, Thompson NM, Schaub BL, Leach R, Hester A, Hale DE, Cody JD. Cognitive ability predicts degree of genetic abnormality in participants with 18q deletions. J Int Neuropsychol Soc 2005 Sep;11(5):584-590. Lancaster JL, Cody JD, Andrews T, Hardies LJ, Hale DE, Fox PT. Myelination in children with partial deletions of chromosome 18q. Am J Neuroradiol 2005;26(3):447-454. Research and clinical interests: syndromes of chromosome 18 (18q-, 18p-, Tetrasomy 18p, Ring 18 & Trisomy 18). We are interested in understanding the molecular basis, clinical and educational features as well as the natural history of individuals with these syndromes.
Professor of pediatrics Division of Genetics Cytogenetics and Genetics Research Core, San Antonio Cancer Institute Office phone: 210-567-6947 Research and clinical interests: human molecular genetics, Paget disease of the bone and osteosarcomas Recent publications: Balic I, Graham ST, Troyer DA, Higgins B, Pollock BH, Johnson-Pais TL, Thompson IM, Leach RJ (2002) Androgen receptor length polymorphism associated with prostate cancer risk in Hispanics. J Urology, in press. Schaub RL, Reveles XT, Baillargeon J, Leach RJ, Cody JD (2002) Molecular characterization of 18p deletions: evidence for a breakpoint cluster. Genet Med 4:15-19. Associate professor of pediatrics Division of Genetics Office Telephone: 210-562-5370 Education: M.D., Texas A&M University College of Medicine, 1989 B.S., basic medical science, Texas A&M University College of Medicine, 1987 B.A., biology, Texas A&M University College of Medicine, 1985 Training: Fellowship, medical genetics, Children's Hospital Central California, 1992-95 Residency, pediatrics, University of Arizona Health Sciences Center, 1990-92 Internship, pediatrics, University of Arizona Health Sciences Center, 1989-90 Board Certification: Pediatrics, 1992; medical genetics, 1996 Recent Publications: Stevens CA, Roeder ER. Ser351Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene Results in Pfeiffer Syndrome Clinical Dysmorphology 2006;15:187-188. Vaux KK, Hudgins L, Bird LM, Roeder ER, Curry C, Jones M, Jones K. The Neonatal Phenotype in Kabuki Syndrome. American Journal of Medical Genetics 2005;132A:244-247. Graham JM, Hennekam R, Dobyns WB, Roeder ER, Busch D. MICRO Syndrome: An Entity Distinct From COFS Syndrome American Journal of Medical Genetics 2004;128A:235-245.
Associate professor of pediatrics Division of Genetics Phone: 210-562-5844 Education: M.D., University of Pittsburgh, 1975 B.S., life sciences, United States Air Force Academy, Colorado Springs, 1970 Training: Fellowship, general genetics, Baylor College of Medicine, 1982-84 Residency, pediatrics, Wilford Hall USAF Medical Center, 1975-78 Board Certification: Pediatrics, 1979; medical genetics, 1987 Recent Publications: Cody JD, Sebold C, Malik A, Heard P, Carter E, Crandall A, Soileau B, Semrud-Clikeman M, Cody CM, Hardies LJ, Li J, Lancaster J, Fox PT, Stratton RF, Perry B, Hale DE. Recurrent Interstitial Deletions of Proximal 18q: A New Syndrome Involving Expressive Speech Delay Am. J Med Genet 2007;143A:1181-1190. Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C, Stratton RF. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005 Apr;42(4):318-321. Interests: Genetics, Dysmorphology
Associate professor of pediatrics Division of Genetics Cytogenetics and Genetics Research Core, San Antonio Cancer Institute Office telephone: 210-567-6571 Lab phone: 210-567-5261 Education: Ph.D., cellular and structural biology, University of Texas Health Science Center, San Antonio, 1994 B.S., medical technology, University of Nebraska, 1986 Training: Fellowship, molecular genetics, Oregon Health Sciences University, Portland, 1996-98 Fellowship, genetics, University of Texas Health Science Center, San Antonio, 1994-96 Board Certification: Medical Technologist - American Society of Clinical Pathologists Recent Publications: Srinivasan S, Ito M, Kajiya H, Key LL, Johnson-Pais TL, Reddy SV. Functional characterization of human osteoclast inhibitory peptide-1 (OIP-1/hSca) gene promoter. Gene 2006 Apr;371(1):16-24. Gunn SR, Reveles XT, Hamlington JD, Sadkowski LC, Johnson-Pais TL, Jorgensen JH. Use of DNA sequencing analysis to confirm fungemia due to Trichosporon dermatis in a pediatric patient. J Clin Microbiol 2006 Mar;44(3):1175-1177. Lehman DM, Leach R, Johnson-Pais T, Hamlington J, Fowler S, Almasy L, Duggirala R, Stern MP, Abboud HE. Evaluation of tight junction protein 1 encoding zona occludens 1 as a candidate gene for albuminuria in a Mexican American population Exp and Clin Endoc and Diab 2006 Interests: Genetics of Cancer - Identification of genetic alterations that play a role in cancer tumorigenesis, especially in urologic cancers. Genetics of Paget's Disease of Bone - Understanding the role of mutant SQSTM1 proteins in familial Paget's Disease of Bone
Assistant professor of pediatrics and psychology Division of Genetics Phone: 210-567-6534 Education: Ph.D., School Psychology, University of Texas at Austin 2004 M.A., Clinical Psychology, Trinity University 1982 B.A., Psychology, University of Houston, 1979 Training: Residency Training in Clinical Psychology, UT Health Science Center, San Antonio, 1999-2000 Board Certification: Licensed Psychologist Licensed Psychological Associate Recent Publications: Berninger V, O‘Donnell L, Holdnack J. Research-Supported Differential Diagnosis of Specific Learning disabilities and Implications for Instruction and Response and Instruction (RTI) A. Prifitera, D.H. Saklofske & L.G. Weiss (Eds.). Clinical Interpretation of the WISC-IV-revised. San Diego CA: Academic Press; 2008. Wood PR, Smith, B, O‘Donnell L, Galbreath AD, Lara M, Forkner E, Peters JI. Quantifying asthma symptoms in adults: The Lara Asthma Symptom Scale American Academy of Allergy, Asthma & Immunology 2007 Dec; 120(6):1368-1372. Olvera,R., Semrud-Clikeman,M., Pliska, S.,& O‘Donnell, L. Neuropsychological Deficits in Adolescents with Conduct Disorder and Comorbid Bipolar Disorder: A Pilot Study Bipolar Disorders 2005;7:57-67. Berninger, V., Smith, D.,& O‘Donnell, L.. Research-Supported Assessment-Intervention links for Reading and Writing NASP Communique 2004;32(5) Interests: Investigation of neurocognitive processes (memory and executive functioning) associated with learning disabilities and ADHD; understanding the cognitive, behavioral, and emotional features associated with the syndromes of chromosome 18 (18q-, 18p-, tetrasomy 18p, Ring 18 & Trisomy 18).
National Newborn Screening and Genetics Resource Center
Professor of pediatrics 1912 W. Anderson Lane, Suite 210 Austin, TX 78757 Phone: 512-454-6419 E-mail: therrell@uthscsa.edu Education: Ph.D., inorganic chemistry, Florida State University, 1971 M.S., inorganic chemistry, Florida State University, 1969 B.S., chemistry, Mississippi College, 1966 Board Certification: High Complexity Laboratory Director, American Board of Bioanalysis, 1992 Recent Publications: Sweetman L, Millington DS, Therrell BL, Hannon WH, Popovich B, Watson MS, Mann MY, Lloyd-Puryear MA, van Dyck PC, Therrell Jr BL. Naming and counting disorders (conditions) included in newborn screening panels. Pediatrics 2006 May;117(5 Pt):308-314. Johnson K, Lloyd-Puryear MA, Mann MY, Ramos LR, Therrell BL, Therrell Jr BL. Financing state newborn screening programs: sources and uses of funds. Pediatrics 2006 May;117(5 Pt):270-279. Therrell BL, Johnson A, Williams D, Therrell Jr BL. Status of newborn screening programs in the United States. Pediatrics 2006 May;117(5 Pt):212-252. Interests: newborn screening, clinical chemistry, biochemistry, cytogenetic testing, toxicology, and blood banking programs; improving pediatric health outcome through newborn screening
Celia Kaye, M.D., Ph.D. Assistant professor of pediatrics 512-454-6419 Education: Ph.D., biochemistry, Northwestern University, Chicago, 1975 M.D., Wayne State University, Detroit, 1969 M.S., Wayne State University, Detroit, 1968 B.S., Wayne State University, Detroit, 1965 Training: Postdoctoral fellowship, biochemical genetics, Children's Memorial Hospital, Chicago, 1972-75 Residency, pediatrics, University of Illinois Hospital, Chicago, 1971-72 Residency, pediatrics, Bronx Municipal Hospital Center, New York, 1969-71 Board Certification: Pediatrics, 1974; Medical Genetics, 1982 Recent Publications: Kaye CI, Livingston J, Canfield MA, Mann MY, Lloyd-Puryear MA, Therrell BL, Therrell Jr BL. Assuring clinical genetic services for newborns identified through U.S. newborn screening programs. Genet Med 2007 Aug;9(8):518-527. Kaye CI, Livingston J, Canfield MA, Mann MY, Lloyd-Puryear MA, Therrell BL.. Assuring clinical genetic services for newborns identified through U.S. newborn screening programs Genetics in Medicine 2007 Aug;9(8):518-527. Kaye CI. Committee on Genetics. Accurso F, La Franchi S, Lane PA, Hope N, Sonya P, G Bradley S, Michele A LP. Newborn screening fact sheets Pediatrics 2006 Sep;118(3):934-963. |
Louise O'Donnell, Ph.D.
Bradford Therrell, Ph.D.