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What's New in Newborn Screening - July 2010 - Bradford Therell PhD, MS
What's New in Newborn Screening - July 2010  
2010 SERGG Annual Meeting
University of Florida Health
Pediatric Specialties
Tallahassee, FL  
July 23rd, 2010

About the Presentation
Dr. Therrell presents at the 2010 SERGG Annual Meeting.

Selected Publications by the Presenter
(Selected from over 135 publications)
1.    Moo-Penn W, Bechtel K, Johnson M, Jue D, Therrell B, Morrison B, Schmidt R. Hemoglobin Fannin-Lubbock [α(2)ß(2)119 (GH2) Glyï®Asp] a new hemoglobin variant at the α(1)ß(1) contact. Biochimica Biophysica Acta 1976;453:472-477.
2.    Moo-Penn WF, Johnson MH, Bechtel KC, Jue DL, Therrell BL Jr, Schmidt RM. Hemoglobins Austin and Waco: two hemo¬globins with substitutions in the α(1)ß(2) contact region.  Arch Bio¬chem Biophysics 1977;179:86-94.
3.    Schmidt RM, Bechtel KC, Johnson MH, Therrell BL Jr, Moo-Penn WF. Hemoglobin Lufkin:  ß29(B11) Glyï®Asp. An unstable hemoglo¬bin variant involving an internal amino acid resi¬due. Hemo¬globin  1977;1:799-814.
4.    Moo-Penn WF, Jue DL, Johnson MH, Wilson SM, Therrell BL Jr, and Schmidt RM. Hemoglobin Tarrant:  α126(H9) Aspï®Asn. A new hemo¬globin variant at the α(1)ß(2) contact region showing high oxygen affinity and reduced cooperativity.  Biochimica Bio¬physica Acta 1977;490:443-45.
5.    Therrell BL,Brown L. Computerized newborn screening in Texas: a multiple microcomputer approach. J Med Syst 1988;12:115-120.
6.    Therrell BL Jr, Simmank JL, Wilborn M.  Experiences with sickle hemoglobin testing in the Texas Newborn Screening Program.  Pediatrics 1989;83(Suppl):864-867.
7.    McCabe ERB, Zhang YH, Descartes M, Therrell BL Jr, Erlich HA. Rapid detection of ß6 DNA from Guthrie cards by chromogenic probes. Lancet 1989;ii:741.
8.    Therrell BL Jr, Panny SR, Davidson A, Eckman J, Hannon WH, Henson MA, et al.  U.S. newborn screening system guidelines: statement of the Council of Regional Networks for Genetic Services.  Screening 1992;1:135-147.
9.    Jackson D, Page S, White J, McCabe H, Zhang Y-H, Therrell B, McCabe ERB. Unbiased analysis of the frequency of ß-thalassemia point mutations in a population of African-American newborns. Arch Path Lab Med 1993;117:1110-4.
10.    Gunn S, Sherman L, Therrell B, Owerbach D.  Molecular genetics of 21-hydroxylase late-onset congenital adrenal hyperplasia.  Seminars Reprod Endocrin 1993;11:347-352.
11.    Rosenthal MA, Ou CN, Rognerud CL, Hoffman W, Fucharoen S, Little C, Pass K, Therrell BL , Epstein N.  Monoclonal immunoassay for the identification of hemoglobin variants in neonatal screening.   Screening 1994;3:67-76.
12.    Zhang Y-H, McCabe LL, Wilborn M, Therrell BL, and McCabe ERB.  Application of molecular genetics in public health:  improved follow-up in a neonatal hemoglobinopathy screening program.  Biochem Med Metab Biol 1994;52:27-35.
13.    Therrell BL.  Newborn screening: reviewing the past, exploring the future.  In: Lam STS, Pang CCP (eds) Neonatal and Perinatal Screening - The Asian Pacific Perspective.  Hong Kong: The Chinese University Press, 1996:9-18.
14.    Therrell BL, Hannon WH, et al.  Guidelines for the retention, storage, and use of residual blood spot samples after newborn screening. Biochem Molec Med 1996;57:116-124.
15.    Kurtin D, Therrell BL, and Patterson P.  Demographic risk factors associated with elevated lead levels in Texas children covered by Medicaid.  Env Health Perspectives 1997;105:66-68.
16.    Tuuminen T, Ingman H, Therrell BL, and Kallio A.  Multivariant confirmation of sickle cell disease using a non-radioactive minisequencing reaction.  Hemoglobin 1997;21:71-89.
17.    Therrell BL, Berenbaum SA, Manter-Kapanke V, et al. Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 1998;101:583-590.
18.    Ater JL, Gardner KL, Foxhall LE, Therrell BL Jr, Bleyer WA.  Neuroblastoma screening in the United States:  results of the Texas Outreach Program for neuroblastoma screening.  Cancer 1998;82:1593-1602.
19.    Therrell BL. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metabolism Clinics of North America 2001;30:15-30.
20.    Therrell BL.  U.S. newborn screening policy dilemmas for the twenty-first century.  Molec Genet Metab 2001;74:64-74.
21.    Kaye CI, Laxova R, …Therrell BL.  Integrating genetic services into public health – guidance for state and territorial programs from the National Newborn Screening and Genetics Resource Center (NNSGRC).  Community Genet 2001;4:175-196.
22.    Therrell BL (contributing author) Genetic Evaluation of Congenital Hearing Loss Expert Panel, American College of Medical Genetics.  Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genet Med 2002;4:162-171.
23.    Larsson A and Therrell BL.  Newborn screening: the role of the obstetrician.  Clin Obstetr Gynecol 2002; 45:697-710.
24.    McCabe LL, Therrell BL, McCabe ERB.  Newborn screening: rationale for a comprehensive, fully integrated public health system.  Molec Genet Metabol 2002:77267-273.
25.    Bhardwaj U, Zhang Y-H, Jackson DS, Buchanan GR, Therrell BL, McCabe L and McCabe ERB.  DNA diagnosis confirms hemoglobin deletion in newborn screening follow-up.  J Pediatr 2003;142:346-348.
26.    Therrell BL.  Data integration and warehousing: coordination between newborn screening and related public health programs.  Southeast Asia J Trop Med Public Health 2003;34(suppl 3):63-8.
27.    Therrell BL, Lloyd-Puryear MA, Mann MY. Understanding newborn screening system issues with emphasis on cystic fibrosis screening. Journal of Pediatrics 2005;147(Suppl):S6-10.
28.    Sweetman L, Millington DS, Therrell BL, et al. Naming and counting disorders (conditions) included in newborn screening panels. Pediatrics 2006;117:308-314.
29.    Therrell BL, Johnson A, Williams D. Status of newborn screening programs in the United States. Pediatrics 2006;117:212-252.
30.    Hoff T, Hoyt A, Therrell B, Ayoob M. Exploring barriers to long-term follow-up in newborn screening programs. Genetics in Medicine 2006;8:563-70.
31.    Therrell BL, Hannon WH.  National evaluation of U.S. newborn screening system components.  Ment Retard and Develop Disabil Res Rev 2006;12:236-45.
32.    Therrell BL, Williams D, Johnson K, Lloyd-Puryear MA, Mann MY, Ramos LR. Financing newborn screening: sources, issues, and future considerations. J Public Health Management & Practice 2007;13:207-13.
33.    Kaye CI, Livingston J, Canfield MA, Therrell BL, Mann MY, Lloyd-Puryear M. Assuring clinical genetic services for newborns identified through state newborn screening programs in the U.S.  Genetics in Medicine 2007;9:518-27. 
34.    Therrell BL, Adams J.  Newborn screening in North America.  Journal of Inherited Metabolic Disease 2007;30:447-65.
35.    Padilla CD, Therrell BL.  Newborn screening in the Asia Pacific Region.  Journal of Inherited Metabolic Disease 2007;30:490-506.
36.    Kavanagh PL, Wang CJ, Therrell BL, Sprinz PG, Bauchner H. Communication of positive newborn screening results for sickle cell disease and sickle cell trait: variation across states.  Am J Med Genet C Semin Med Genet. 2008;148:15-22.

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