Resources

Publications

Misinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs
David Millington and Deeksha Bali
MGM Reports. 2017; 11: 72-73. doi: 10.1016/j.ymgmr.2017.04.009. Epub 2017 May 10.

Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri
Patrick V. Hopkins, Carlene Campbell, Tracy Klug, Sharmini Rogers, Julie Raburn-Miller, Jami Kiesling
J Pediatrics. 2015 Jan;166(1):172-7. doi: 10.1016/j.jpeds.2014.09.023. Epub 2014 Oct 18. (not freely available)

Point-of-Care Quantitative Measure of Glucose-6-Phosphate Dehydrogenase Enzyme Deficiency
Vinod K. Bhutani, Michael Kaplan, Bertil Glader, Michael Cotten, Jairus Kleinert, Vamsee Pamula
Pediatrics. 2015 Nov;136(5):e1268-75. doi: 10.1542/peds.2015-2122. Epub 2015 Oct 12. (not freely available)

Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns
Carrie Graham, Ramakrishna S Sista, Jairus Kleinert, Ning Wu, Allen Eckhardt, Deeksha Bali, David S Millington, and Vamsee K. Pamula
Clin Biochem. 2013 December ; 46(18): 1889–1891. doi:10.1016/j.clinbiochem.2013.09.003.

Multiplex Newborn Screening for Pompe, Fabry, Hunter, Gaucher, and Hurler Diseases Using a Digital Microfluidic Platform
Ramakrishna S. Sista, Tong Wang, Ning Wu, Carrie Graham, Allen Eckhardt, Theodore Winger, Vijay Srinivasan, Deeksha Bali, David S. Millington, and Vamsee K. Pamula
Clin Chim Acta. 2013 September 23; 424: 12–18. doi:10.1016/j.cca.2013.05.001.

Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics
Ramakrishna S. Sista, Tong Wanga, Ning Wu, Carrie Graham, Allen Eckhardt, Deeksha Bali, David S. Millington, and Vamsee K. Pamula
Mol Genet Metab. 2013 June ; 109(2): 218–220. doi:10.1016/j.ymgme.2013.03.010.

Novel microfluidic platform for automated lab-on-chip testing of hypercoagulability panel.
Emani S, Ramakrishna Sista, Loyola H. Trenor III C, Vamsee Pamula, Emani S.
Blood Coag and Fibrinolysis 2012, 23: 760-768. (not freely available)

Digital Microfluidic Platform for Multiplexing Enzyme Assays: Implications for Lysosomal Storage Disease Screening in Newborns
Ramakrishna S. Sista, Allen E. Eckhardt, Tong Wang, Carrie Graham, Jeremy L. Rouse, Scott M. Norton, Vijay Srinivasan, Michael G. Pollack, Adviye A. Tolun, Deeksha Bali, David S. Millington, and Vamsee K. Pamula
Clinical Chemistry 57:10 1444–1451 (2011)

Digital Microfluidics: A Future Technology in the Newborn Screening Laboratory?
David S. Millington, PhD, Ramakrishna Sista, PhD, Allen Eckhardt, PhD, Jeremy Rouse, Deeksha Bali, PhD, Ronald Goldberg, MD, Michael Cotten, MD, Rebecca Buckley, MD, and Vamsee Pamula, PhD
Semin Perinatol. 2010 April ; 34(2): 163–169. doi:10.1053/j.semperi.2009.12.008.


White Papers


Conference Presentations

Newborn Screening for Time-Critical Metabolic Disorders – A New Paradigm to Test at the Point of Care. S. Chopra, A. Mohsen, R. Singh, M. Nuffer, C. Graham, R. Ng, J. Vockley and V. Pamula. Platform presentation at the 2017 Pediatric Academic Society Annual Meeting (May 6-9, 2017 in San Francisco, CA).

Multiplex PCR for High Throughput Screening of Severe Combined Immunodeficiency, Spinal Muscular Atrophy and X-Linked Agammaglobulinemia. L. Nelson, J. Taylor, R. Singh, S. Norton, and V. Pamula. Poster presented at the 2017 ACMG Annual Meeting (March 21-25, 2017 in Phoenix, Arizona).

Flexible Digital Microfluidic Platform to Multiplex Various Combinations of Enzymatic Assays for Newborn Screening of Pompe, Mucopolysaccharidosis Types I and II, Biotinidase Deficiency and Galactosemia Disorders. A. Ullal, R. Ng, M. Nuffer, C. Graham, L. Nelson, R. Singh and V. Pamula. Poster presented at the 2017 LSD World Symposium (Feb 13-17, 2017 in San Diego, CA).

Multiplexing Current and Emerging Enzymatic Assays for Pompe, Mucopolysaccharidosis Type I, Biotinidase Deficiency and Galactosemia Disorders on a Digital Microfluidic Cartridge. M. Nuffer, C. Graham, L. Nelson, A. Ullal, R. Singh and V. Pamula. Poster presented at the 2016 International Society for Neonatal Screening (Sept 11-14, 2016 in the Hague, Netherlands).

Krabbe and Niemann-Pick disorders: Development of novel fluorimetric assays using dried blood spots
D. Bali, H. Pham, C. Graham, P. Ross, M. Nuffer, S. Norton, R. Singh, A. Ullal, V. Pamula
Presented at 2016 LSD World Symposium (Feb 29-Mar 4, 2016 in San Diego, CA)