Campbell, M. K, Denson, L.E (2007). Alpha-1-Antitrypsin Deficiency. Pediatric and Clinical Advisor: Instant Diagnosis and Treatment. (2), 18-19.

Campos, M.A., Lascano, J. (2014). α1 Antitrypsin Deficiency: Current Best Practice in Testing and Augmentation Therapy. Therapeuitic Advances in Respiratory Disease, 8(5), 150-161.10.1177/1753465814542243

Donato, L. J., Karras, R. M., Katzmann, J. A., Murray, D. L., & Snyder, M. R. (2015). Quantitation of circulating wild-type alpha-1-antitrypsin in heterozygous carriers of the S and Z deficiency alleles. Respiratory Research, 16(1), 96.

Haq, I., Irving, J. A., Saleh, A. D., Dron, L., Regan-Mochrie, G. L., Motamedi-Shad, N., … Lomas, D. A. (2016). Deficiency Mutations of Alpha-1 Antitrypsin. Effects on Folding, Function, and Polymerization. American Journal of Respiratory Cell and Molecular Biology, 54(1), 71–80.

Long, O. S., Benson, J. A., Kwak, J. H., Luke, C. J., Gosai, S. J., O’Reilly, L. P., … Pak, S. C. (2014). A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover. Human Molecular Genetics, 23(19), 5109–5122.

Matamala, N., Aggarwal, N., Iadarola, P., Fumagalli, M., Gomez-Mariano, G., Lara, B., … Martinez-Delgado, B. (2017). Identification of Novel Short C-Terminal Transcripts of Human SERPINA1 Gene. PLoS ONE, 12(1), e0170533.

Moller, D. R., Koth, L. L., Maier, L. A., Morris, A., Drake, W., Rossman, M., … Gibson, K. F. (2015). Rationale and Design of the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) Study. Sarcoidosis Protocol. Annals of the American Thoracic Society, 12(10), 1561–1571.
O’Reilly, L. P., Long, O. S., Cobanoglu, M. C., Benson, J. A., Luke, C. J., Miedel, M. T., … Pak, S. C. (2014). A genome-wide RNAi screen identifies potential drug targets in a C. elegans model of α1-antitrypsin deficiency. Human Molecular Genetics, 23(19), 5123–5132.
Parrott, R. L., Smith, R. A., Hong, S. J., & Worthington, A. (2015). Congruence-Incongruence Patterns in Alpha-1 Antitrypsin Deficiency Couples’ Genetic Determinist Beliefs and Perceived Control over Genes: Implications for Clinical and Public Health Genomic Communication. Journal of Genetic Counseling, 24(3), 532–540.
Sinden, N. J., Baker, M. J., Smith, D. J., Kreft, J.-U., Dafforn, T. R., & Stockley, R. A. (2015). α-1-Antitrypsin variants and the proteinase/antiproteinase imbalance in chronic obstructive pulmonary disease. American Journal of Physiology - Lung Cellular and Molecular Physiology, 308(2), L179–L190.
Wilson, A. A., Ying, L., Liesa, M., Segeritz, C.-P., Mills, J. A., Shen, S. S., … Kotton, D. N. (2015). Emergence of a Stage-Dependent Human Liver Disease Signature with Directed Differentiation of Alpha-1 Antitrypsin-Deficient iPS Cells. Stem Cell Reports, 4(5), 873–885.

Primary Research
Materials and Methods