Over the past 14 years, SERN-supported research and projects have been presented at various meetings regionally, nationally, and internationally, as well as published as peer-reviewed articles, book chapters, and as various multimedia resources.

Peer-Reviewed Journal Articles


  • Kenneson A, Osara Y, Pringle T, Youngborg L, Singh RH. Natural History of Children and Adults with Maple Syrup Urine Disease in the NBS-MSUD Connect Registry. Molecular Genetics and Metabolism Reports. 2018, Jun;15:22-27. doi: 10.1016/j.ymgmr.2018.01.001 (PDF)
  • Chinsky JM, Singh R, Ficicioglu C, et al. Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Genet Med. 2017;19(12) PMID: 28771246
  • Osara Y, Coakley K, Deverajan  A, Singh RH. Development of Newborn Screening Connect (NBS Connect): A self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders. Orphanet Journal of Rare Diseases. 2017, Jul; 12(1):132. PMID: 28724394 (PDF)
  • Coakley KE, Douglas TD, Goodman M, Ramakrishnan U, Dobrowolski SF, Singh RH. Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency. J Inherit Metab Dis. 2016;39(3):363-372. PMID: 26883219
  • Singh RH, Cunningham AC, Mofidi S, et al. Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach. Mol Genet Metab. 2016;118(2):72-83. PMID: 27211276
  • Bellcross CA, Harmond L., Floyd-Browning P., Singh R. Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey. Healthcare. 2015;3(4):964-972. PMID: 27417806 (PDF)
  • Demirdas S, Coakley KE, Bisschop PH, Hollak CE, Bosch AM, Singh RH. Bone health in phenylketonuria: a systematic review and meta-analysis. Orphanet J Rare Dis. 2015;10:17. PMID: 25758373
  • Osara Y, Coakley K, Aisthorpe A, Stembridge A, Quirk M, Splett PL, Rohr F, Singh RH. The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders. J Eval Clin Pract. 2015 Dec;21(6):1235-43. doi: 10.1111/jep.12428. Epub 2015 Aug 12. PMID: 26268585 (PDF)
  • Romelczyk S, Homan S, Telfair J, Gaurav D, Keehn A, Maiese D. NCC Evaluation Workgroup. Healthcare Coordination and Transition for Individuals with Genetic Conditions. Matern Child Health J. 2015 Oct;19(10):2215-22. PMID: 25687395. DOI: 10.1007/s10995-015-1738-6. PMID: 25687395
  • Floyd-Browning P, Perry W, Andersson HC. Newborn Screening Results Reporting Survey: A national snapshot with implications for emergency preparedness. J Pediatr. 2013;162(5):955-7. PMID: 23245195 (PDF)
  • Andersson HC, Perry W, Bowdish B, Floyd-Browning P. Emergency preparedness for genetics centers, laboratories and patients: the SouthEast Region Genetics Collaborative strategic plan. Genet Med, ePub: June, 2011, October, 2011  PMID: 21673582 (PDF)
  • Singh RH, Rohr F, Splett PL. (2011), Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines. Journal of Evaluation in Clinical Practice. doi: 10.1111/j.1365-2753.2011.01807.x  PMID: 22168925 (PDF)
  • Kemper A, Brewer C, Singh RH. Perspectives on barriers to dietary adherence among women with Inborn Errors of Metabolism. Journal of the American Dietetic Association, 110:247-252, 2010.
  • Singh RH, Hinman AR. Newborn dried bloodspot screening: Long-term follow-up activities and information system requirements. Genet Med. Dec;12(12 Suppl):S261-6. 2010  PMID: 21150373
  • Weaver, MA, Johnson A, Singh RH, Wilcox WR, Lloyd-Puryear MA, Watson MS. Medical food: Inborn errors of metabolism and the reimbursement dilemma. Genet Med. Jun;12(6):364-369, 2010.  PMID: 20445457
  • Hinman AR, Mann M, Singh RH. Newborn dried bloodspot screening: mapping the clinical and public health components and activities. Genetics in Medicine 11(6):418-424, 2009.  doi: 10.1007/s12687-011-0055-z
  • Morales A, Wierenga A, Cuthbert C, Sacharow S, Jayakar P, Velazquez D, Loring J, Barbouth D. Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment. Genetics in Medicine 2009 Mar;11(3):169-75.  PMID: 19367190
  • Singh RH, Hinman AR, Wild E. Building a model for a comprehensive newborn screening system long-term follow-up information system. Mol Genet and Metab, 2009.
  • Das S, Bale SJ, Ledbetter DH: Molecular genetic testing for ultra rare diseases: Models for translation from the research laboratory to the CLIA-certified diagnostic laboratory. Genetics in Medicine 10:332-336, 2008.  PMID: 18496031
  • Ledbetter DH: Gene patenting vs. licensing: the role of academic researchers and advocacy groups. Genetics in Medicine 10:314-319,2008.  PMID: 18496028
  • Ledbetter DH: Cytogenetic technology, the genotype and the phenotype, New England Journal of Medicine, 356: 1828-30, 2008.  PMID: 18784093
  • Ledbetter DH, Faucett WA: Issues in genetic testing for ultra-rare diseases: Background and introduction. Genetics in Medicine 10:309-313, 2008.  PMID: 18428312
  • Singh RH, Kaczmarczyk MM. Standards of professional practice for genetic metabolic dietitians. Genet Med 2008:10(4):290–293  PMID: 18414212
  • Singh RH. The enigma of medical foods. Molecular Genetics and Metabolism. 92(1-2):3–5, 2007. (PDF)
  • Andersson HC, Narumanchi TC, Cunningham A, Bowdish B, Thoene J: Genetic/Metabolic Health Care Delivery During/After Katrina and Rita, Molec Genet Metab 88:3, 2006  PMID: 16311054 (PDF)

Web-based journal Article


  • Eckman JR. Celebrating a Century of Progress in Sickle Disease. Georgia Academy of the Georgia American Academy of Pediatrics Newsletter; Submitted for Publication April 2010.

Books


  • Lloyd-Puryear MA, Kemper AR. Newborn Screening in the United States. In: Saul RA, ed. Medical Genetics in Pediatric Practice. Elk Grove Village, IL: American Academy of Pediatrics; 2013:335 ISBN: 9781581104967
  • Platt AF, Eckman JR, Hsu L. Hope and Destiny: A Patient’s Guide to Sickle Cell Disease and Sickle Cell Trait. 3rd Edition. Roscoe, Illinois: Hilton Publishing Company ISBN: 9780984144709.
  • Lloyd-Puryear MA, Therrell BL, Mann MY, Eckman JR, Telfair J. The Role of the Federal Government in Supporting State Newborn Screening Programs. In: Bailey MA and Murray TH, eds. Ethics and Newborn Genetic Screening. New Technologies, New Challenges. Baltimore, MD: The Johns Hopkins University Press; 2009:178-194.
  • Singh RH. Nutrition Management of Patients with Inherited Disorders of Urea Cycle Enzymes. Nutrition Management of Patients with Inherited Metabolic Disorders. Acosta PB (Ed). Jones and Bartlett Publishers, 2009. PMID: 18034368.

Multimedia


  • Eckman JR. Sickle Cell Disease Awareness. Presented for: Straight Talk Virgin Islands Radio Program on AM 970 WSTX; September 22, 2008. (Related article published in NCC Collaborator Newsletter March 2009 Edition Volume 3, Number 1, page 4).

Invited Platform Presentations-Regional


  • Brauchla MC. Resources for Screening & Early identification: Regional Genetics Collaborative(s). Family Voices Region II Regional Conference; Atlanta, GA; April 30, 2010.
  • Kemper AR. Genetics for the primary care physician. Columbus Regional Healthcare System Grand Rounds. Columbus, GA. June 29, 2010.
  • Kemper AR. Genetics for the primary care physician. Meharry Medical College Department of Pediatrics Grand Rounds. Nashville, TN. April 7, 2010.
  • Eckman JR. Health Disparities in Sickle Cell Disease. Presented at: Practical Issues in Sickle Cell Disease IX: Bringing Hope to Healthcare in Sickle Cell Disease Seminar; University of South Alabama Medical Center; April 25, 2009; Mobile, AL.
  • Eckman JR. The Newborn Exam. Presented at: The Georgia Academy of Family Physicians’ 2009 Summer CME Family Medicine Weekend. May 31, 2009, Hilton Head, GA.
  • Eckman JR. Ouch – Pain and Pain Management in Sickle Cell Disease. Presented at: Sickle Cell Patient, Family and Providers Retreat; May 30, 2009; Savannah, GA.
  • Kemper AR. Genetics for the primary care physician. Columbus Regional Healthcare System Grand Rounds. Columbus, GA. December 10, 2009.
  • Eckman JR. Advancements in Research and the Management of Sickle Cell Disease. Presented to: The Rotary Club of South DeKalb; June 19, 2008; Lithonia, GA.
  • Eckman, JR. Health Care Delivery for Adults with Sickle Cell Disease: Emergency and Inpatient Care. Presented at: Grand Rounds, Piedmont Health Services and Sickle Cell Agency; November 29-30, 2007; Greensboro, NC.
  • Singh RH. Nutrition and Inborn Metabolic Disorders. Children with Special Healthcare Needs Meeting, Division of Public Health, Georgia Department of Human Resources. Macon, GA 2007.
  • Singh RH. Successes in Nutritional Therapies for Metabolic Disorders. Georgia Chapter American Academy of Pediatrics Annual Meeting. Sea Island, GA 2007.

Invited Platform Presentations-National


  • Eckman JR. Lessons Learned from Carrier Screening. Proceedings from: Sickle Cell Anemia Population-Based Carrier Screening for Sickle Gene Disorders: Lessons Learned and New Opportunities. Sponsored by the National Human Genome Research Institute, National Institute of Child Health and Human Development, Office of Rare Diseases of the NIH, Health Resources and Services Administration, Centers for Disease Control and Prevention, Genetic Alliance, and American College of Medical Genetics; February 6-7, 2008; Rockville, MD.
  • Singh RH. Positive Newborn Screens: Challenging Cases.  ACMG/SIMD Annual Conference, Nashville, TN 2007.

Invited Platform Presentations-International


  • Singh RH. New Insights into Nutritional Management and Amino Acids Supplementation in Urea Cycle Disorders, Birmingham, United Kingdom, 2010.
  • Singh RH. Protein requirements in patients with Inborn Errors of Metabolism, Latin American Society of Inborn Errors of Metabolism, 7th International Congress, Cancun, Mexico, 2009.
  • Singh RH. Development of evidence-based practice guidelines for the nutrition management of inherited metabolic disorders. Symposium for Metabolic Dietitians from Scandinavia. Sweden, 2008.

Platform Presentations Accepted Through Abstract Submission


  • Singh RH, Frazier DM, Ueda, K. Current treatment and outcome of Inborn Errors of Metabolism: Developing nutritional guidelines for metabolic disorders. Society for Inherited Metabolic Disorders, Albuquerque, NM, March 2010.
  • Kaczmarczyk MM, Singh RH. Moving newborn screening beyond the screening test: Informatics as a bridge from short- to long-term follow-up. Southeastern Regional Genetics Group Annual Meeting, Charleston, SC, July 2008.
  • Kemper AR and Boyle CA. Assuring long-term follow-up after diagnosis through newborn screening. Genetic Alliance Annual Conference. Bethesda, MD, July 2008.
  • Kaczmarczyk MM, Singh RH. Standards of professional practice for genetic metabolic dietitians. Southeastern Regional Genetics Group Annual Meeting, New Orleans, LA, July 2007.
  • Page T, Knight L, Yu C, Fernhoff P, Singh RH, Ledbetter D. Implementation of a passive short-term follow-up system for newborn screens. Southeastern Regional Genetics Group Annual Meeting, New Orleans, LA, July 2007.

Posters


  • Borlaza RR, Singh RH. Clinical Correlations in Nutrition and Metabolism: Outcomes of a Practical Training Course for Genetic Metabolic Clinicians. 2011 SIMD Annual Meeting, Pacific Grove, CA and The SERC/SERGG Annual Meeting, July 2011.
  • Floyd-Browning P, Perry W, Andersson HC. Newborn Screening (NBS) Results Reporting: A National Snapshot in 2010. 2011 SIMD Annual Meeting, Pacific Grove, CA.
  • Frazier D, Ogata B, Homer C, Otwell E, Rohr F, Singh RH. Nutritional Management Guidelines for MSUD. 2011 SIMD Annual Meeting, Pacific Grove, CA.
  • Jurecki ER, Ueda K, Otwell E, Rohr F, Singh RH. Development of Nutrition Guidelines for Inborn Errors of Metabolism (IEM): Results of the First Delphi Survey on Propionic Acidemia Guidelines. 2011 SIMD Annual Meeting, Pacific Grove, CA.
  • Otwell E, Stembridge A. Use of Business Process Analysis and Requirements Development to Build the Nutrition Guidelines Portal. SERC/SERGG Annual Meeting, July 2011.
  • Pike BL, He M, Caldwell GS, Chaing SH, Evans C, Hagar AF, McKeever CD, Morris D, Torres J, Stembridge A, Wood TC. Peer-to-Peer Sample Exchange Program for Continuous Quality Assessment. APHL Annual Meeting, Omaha, NE. June 2011; SERC/SERGG Annual Meeting, July 2011.
  • Shankar P, Navathe S, Malhotra K, Sheth K, and Singh RH. Defining a Semantic Web Architecture for Long Term Follow Up (LTFU) of Children Positively tested with New Born Screening (NBS) Program. 2011 SIMD Annual Meeting, Pacific Grove, CA.
  • Kemper AR, Ouyang L, Grosse SD. Discontinuation of thyroid hormone treatment among children in the United States with congenital hypothyroidism. Pediatric Academic Societies Meeting. Vancouver, Canada, May 2010.
  • Tirado-Ramos A, Pan TC, Saltz JH, Singh RH. A grid-based framework for comparative effectiveness research in newborn dried bloodspot screening for long-term follow-up. AMIA Summit on Clinical Research Informatics, San Francisco, CA, March, 2010.
  • Kaczmarczyk M, Travis SJ, Brauchla MC, Singh RH. The Creation of NBS Connect, a clinician supported patient registry and support network facilitating long-term follow-up of individuals with inborn errors of metabolism (IEM). American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa, FL, March 2009.
  • Singh RH, Splett P, Rohr F. Nutrition management guidelines: Development of a method to merge scientific evidence and clinical expertise. American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa, FL, March 2009.
  • Brauchla MC and Singh RH. Creation of a centralized resource on legislation and coverage of medical foods (formula), modified low-protein foods, and dietary supplements in the Southeast region. Southeastern Regional Genetics Group Annual Meeting, Charleston, SC, July 2008.
  • Yu C, Stembridge A, Page PZ, Fernhoff PM, Ledbetter DH, Singh RH. Evaluation of performance metrics of TMS newborn screening in Georgia. Society of Inborn Errors of Metabolism, Asilomar, Pacific Grove, CA, March 2008.
  • Brauchla M, Keehn A, Singh RH. Southeastern newborn screening system contact reference. Southeastern Regional Genetics Group Annual Meeting, New Orleans, LA, July 2007.
  • Page T, Bean L, Yu C, Fernhoff P, Singh RH, Ledbetter D. Playing catch-up: Update on expansion of the newborn screening panel in Georgia. Southeastern Regional Genetics Group Annual Meeting, New Orleans, LA, July 2007.
  • Singh RH, Brauchla M, Keehn A, Ledbetter D. Closing the gaps: A regional genetic services directory to facilitate information sharing throughout the comprehensive newborn screening system in the Southeastern United States (Region 3), Florida Chapter American Academy of Pediatrics Annual Meeting, Orlando, FL, June 2007.