Barbara K Burton

  • 6609 Citations
1973 …2020

Research output per year

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Personal profile

Research Interests

I am primarily interested in the diagnosis and treatment of patients with inherited metabolic disorders and in clinical trials of new therapies for rare disorders. I have particular interest and expertise in disorders diagnosed through newborn screening (phenylketonuria and others) and in lysosomal storage disorders.

Certifications and Licenses

Clinical Biochemical Genetics
Clinical Genetics (MD)

Training Experience

1975Residency, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital)
1977Fellowship, Northwestern University, McGaw Medical Center (Children’s Memorial Hospital)

Education/Academic qualification

MD, Northwestern University Feinberg School of Medicine

… → 1973

Research interests

  • Genetic Testing/Counseling
  • Genetics: Medical
  • Metabolism
  • Neurogenetics

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Research Output

Newborn screening for pompe disease in Illinois: Experience with 684,290 infants

Burton, B. K., Charrow, J., Hoganson, G. E., Fleischer, J., Grange, D. K., Braddock, S. R., Hitchins, L., Hickey, R., Christensen, K. M., Groepper, D., Shryock, H., Smith, P., Shao, R. & Basheeruddin, K., Jan 1 2020, In : International Journal of Neonatal Screening. 6, 1, ijns6010004.

Research output: Contribution to journalArticle

Open Access
  • Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (Genetics in Medicine, (2019), 21, 3, (601-607), 10.1038/s41436-018-0137-y)

    Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I. & 12 others, Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., Aug 1 2019, In : Genetics in Medicine. 21, 8, 1 p.

    Research output: Contribution to journalComment/debate

  • Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

    Longo, N., Dimmock, D., Levy, H., Viau, K., Bausell, H., Bilder, D. A., Burton, B., Gross, C., Northrup, H., Rohr, F., Sacharow, S., Sanchez-Valle, A., Stuy, M., Thomas, J., Vockley, J., Zori, R. & Harding, C. O., Aug 1 2019, In : Genetics in Medicine. 21, 8, p. 1851-1867 17 p.

    Research output: Contribution to journalArticle

  • 10 Scopus citations

    Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

    Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., Person, R., Wentzensen, I. M., McWalter, K., Keren, B., Heron, B., Nava, C., Heron, D., Kim, K., Burton, B., Al-Musafri, F., O'Grady, L., Sahai, I., Escobar, L. F., Meuwissen, M. & 11 others, Reyniers, E., Kooy, F., Lacassie, Y., Gunay-Aygun, M., Schatz, K. S., Hochstenbach, R., Zwijnenburg, P. J. G., Waisfisz, Q., van Slegtenhorst, M., Mancini, G. M. S. & Louie, R. J., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1276-1286 11 p.

    Research output: Contribution to journalArticle

  • Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria

    Zori, R., Ahring, K., Burton, B., Pastores, G. M., Rutsch, F., Jha, A., Jurecki, E., Rowell, R. & Harding, C., Sep 1 2019, In : Molecular Genetics and Metabolism. 128, 1-2, p. 92-101 10 p.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations