1. Jackson, T., Wegner, D. J., White, F. V., Hamvas, A., Cole, F. S., Wambach, J. A. (2015). Respiratory failure in a term infant with cis and trans mutations in ABCA3. J Perinatol, 35 (3), 231-2. PMCID: PMC4341920 PubMed: 25712598.

  2. Wambach, J. A., Casey, A. M., Fishman, M. P., Wegner, D. J., Wert, S. E., Cole, F. S., Hamvas, A., Nogee, L. M. (2014). Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med, 189 (12), 1538-43. PMCID: PMC4226019 PubMed: 24871971

  3. Szafranski, P., Dharmadhikari, A. V., Wambach, J. A., Towe, C. T., White, F. V., Grady, R. M., Eghtesady, P., Cole, F. S., Deutsch, G., Sen, P., Stankiewicz, P. (2014). Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A, 164A (8), 2013-9. PMCID: PMC4107046 PubMed: 24842713.

  4. Wambach, J. A., Wegner, D. J., Heins, H. B., Druley, T. E., Mitra, R. D., Hamvas, A., Cole, F. S. (2014). Synonymous ABCA3 Variants Do Not Increase Risk for Neonatal Respiratory Distress Syndrome. J Pediatr, 164 (6), 1316-1321.e3. PMCID: PMC4035386 PubMed: 24657120.

  5. Ramos, E. I., Bien-Willner, G. A., Li, J., Hughes, A. E., Giacalone, J., Chasnoff, S., Kulkarni, S., Parmacek, M., Cole, F. S., Druley, T. E. (2014). Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly. Clin Genet, 85 (5), 423-32. PMCID: PMC3929543 PubMed: 23692340.

  6. Coghlan, M. A., Shifren, A., Huang, H. J., Russell, T. D., Mitra, R. D., Zhang, Q., Wegner, D. J., Cole, F. S., Hamvas, A. (2014). Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. BMJ Open Respir Res, 1 (1), e000057. PMCID: PMC4265083 PubMed: 25553246.

  7. van Meel, E., Wegner, D. J., Cliften, P., Willing, M. C., White, F. V., Kornfeld, S., Cole, F. S. (2013). Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. BMC Med Genet, 14 (1), 106 PubMed: 24103465.

  8. Hamvas, A., Deterding, R. R., Wert, S. E., White, F. V., Dishop, M. K., Alfano, D. N., Halbower, A. C., Planer, B., Stephan, M. J., Uchida, D. A., Williames, L. D., Rosenfeld, J. A., Lebel, R. R., Young, L. R., Cole, F. S., Nogee, L. M. (2013). Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1. Chest, 144 (3), 794-804. PMCID: PMC3760742 PubMed: 23430038.

  9. Sen, P., Yang, Y., Navarro, C., Silva, I., Szafranski, P., Kolodziejska, K. E., Dharmadhikari, A. V., Mostafa, H., Kozakewich, H., Kearney, D., Cahill, J. B., Whitt, M., Bilic, M., Margraf, L., Charles, A., Goldblatt, J., Gibson, K., Lantz, P. E., Garvin, A. J., Petty, J., Kiblawi, Z., Zuppan, C., McConkie-Rosell, A., McDonald, M. T., Peterson-Carmichael, S. L., Gaede, J. T., Shivanna, B., Schady, D., Friedlich, P. S., Hays, S. R., Palafoll, I. V., Siebers-Renelt, U., Bohring, A., Finn, L. S., Siebert, J. R., Galambos, C., Nguyen, L., Riley, M., Chassaing, N., Vigouroux, A., Rocha, G., Fernandes, S., Brumbaugh, J., Roberts, K., Ho-Ming, L., Lo, I. F., Lam, S., Gerychova, R., Jezova, M., Valaskova, I., Fellmann, F., Afshar, K., Giannoni, E., Muhlethaler, V., Liang, J., Beckmann, J. S., Lioy, J., Deshmukh, H., Srinivasan, L., Swarr, D. T., Sloman, M., Shaw-Smith, C., van Loon, R. L., Hagman, C., Sznajer, Y., Barrea, C., Galant, C., Detaille, T., Wambach, J. A., Cole, F. S., Hamvas, A., Prince, L. S., Diderich, K. E., Brooks, A. S., Verdijk, R. M., Ravindranathan, H., Sugo, E., Mowat, D., Baker, M. L., Langston, C., Welty, S., Stankiewicz, P. (2013). Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat, 34 (6), 801-11. PMCID: PMC3663886 PubMed: 23505205.

  10. Wambach, J. A., Wegner, D. J., Depass, K., Heins, H., Druley, T. E., Mitra, R. D., An, P., Zhang, Q., Nogee, L. M., Cole, F. S., Hamvas, A. (2012). Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics, 130 (6), e1575-82. PMCID: PMC3507255 PubMed: 23166334.

  11. Anadkat, J. S., Kuzniewicz, M. W., Chaudhari, B. P., Cole, F. S., Hamvas, A. (2012). Increased risk for respiratory distress among white, male, late preterm and term infants. J Perinatol, 32 (10), 780-5. PMCID: PMC3461404 PubMed: 22222548.

  12. Agrawal, A., Hamvas, A., Cole, F. S., Wambach, J. A., Wegner, D., Coghill, C., Harrison, K., Nogee, L. M. (2012). An intronic ABCA3 mutation that is responsible for respiratory disease. Pediatr Res, 71 (6), 633-7 PubMed: 22337229.

  13. Bereman, M. S., Tomazela, D. M., Heins, H. S., Simonato, M., Cogo, P. E., Hamvas, A., Patterson, B. W., Cole, F. S., MacCoss, M. J. (2012). A method to determine the kinetics of multiple proteins in human infants with respiratory distress syndrome. Anal Bioanal Chem, 403 (8), 2397-402 PubMed: 22526637.

  14. Wambach, J. A., Yang, P., Wegner, D. J., An, P., Hackett, B. P., Cole, F. S., Hamvas, A. (2010). Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription. Pediatr Res, 68 (3), 216-20. PMCID: PMC2921462 PubMed: 20539253.

  15. Tomazela, D. M., Patterson, B. W., Hanson, E., Spence, K. L., Kanion, T. B., Salinger, D. H., Vicini, P., Barret, H., Heins, H. B., Cole, F. S., Hamvas, A., MacCoss, M. J. (2010). Measurement of human surfactant protein-B turnover in vivo from tracheal aspirates using targeted proteomics. Anal Chem, 82 (6), 2561-7. PMCID: PMC2843406 PubMed: 20178338.

  16. Hamvas, A., Nogee, L. M., Wegner, D. J., Depass, K., Christodoulou, J., Bennetts, B., McQuade, L. R., Gray, P. H., Deterding, R. R., Carroll, T. R., Kammesheidt, A., Kasch, L. M., Kulkarni, S., Cole, F. S. (2009). Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes. J Pediatr, 155 (6), 854-859.e1. PMCID: PMC2794197 PubMed: 19647838.

  17. Druley, T. E., Vallania, F. L., Wegner, D. J., Varley, K. E., Knowles, O. L., Bonds, J. A., Robison, S. W., Doniger, S. W., Hamvas, A., Cole, F. S., Fay, J. C., Mitra, R. D. (2009). Quantification of rare allelic variants from pooled genomic DNA. Nat Methods, 6 (4), 263-5. PMCID: PMC2776647 PubMed: 19252504.

  18. Hamvas, A., Heins, H. B., Guttentag, S. H., Wegner, D. J., Trusgnich, M. A., Bennet, K. W., Yang, P., Carlson, C. S., An, P., Cole, F. S. (2009). Developmental and genetic regulation of human surfactant protein B in vivo. Neonatology, 95 (2), 117-24. PMCID: PMC2765709 PubMed: 18776725.

  19. Garmany, T. H., Wambach, J. A., Heins, H. B., Watkins-Torry, J. M., Wegner, D. J., Bennet, K., An, P., Land, G., Saugstad, O. D., Henderson, H., Nogee, L. M., Cole, F. S., Hamvas, A. (2008). Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res, 63 (6), 645-9. PMCID: PMC2765719 PubMed: 18317237.

  20. McBee, A. D., Wegner, D. J., Carlson, C. S., Wambach, J. A., Yang, P., Heins, H. B., Saugstad, O. D., Trusgnich, M. A., Watkins-Torry, J., Nogee, L. M., Henderson, H., Cole, F. S., Hamvas, A. (2008). Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene. Pediatr Pulmonol, 43 (5), 443-50. PMCID: PMC2765708 PubMed: 18383112.

  21. Hamvas, A., Wegner, D. J., Carlson, C. S., Bergmann, K. R., Trusgnich, M. A., Fulton, L., Kasai, Y., An, P., Mardis, E. R., Wilson, R. K., Cole, F. S. (2007). Comprehensive genetic variant discovery in the surfactant protein B gene. Pediatr Res, 62 (2), 170-5. PMCID: PMC2765713 PubMed: 17597650.

  22. Wegner, D. J., Hertzberg, T., Heins, H. B., Elmberger, G., MacCoss, M. J., Carlson, C. S., Nogee, L. M., Cole, F. S., Hamvas, A. (2007). A major deletion in the surfactant protein-B gene causing lethal respiratory distress. Acta Paediatr, 96 (4), 516-20 PubMed: 17391469.

  23. Hamvas, A., Wegner, D. J., Trusgnich, M. A., Madden, K., Heins, H., Liu, Y., Rice, T., An, P., Watkins-Torry, J., Cole, F. S. (2005). Genetic variant characterization in intron 4 of the surfactant protein B gene. Hum Mutat, 26 (5), 494-5 PubMed: 16211553.

  24. Hamvas, A., Madden, K. K., Nogee, L. M., Trusgnich, M. A., Wegner, D. J., Heins, H. B., Cole, F. S. (2004). Informed consent for genetic research. Arch Pediatr Adolesc Med, 158 (6), 551-5 PubMed: 15184218.

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