Barbara K Burton

  • 6620 Citations
1973 …2020

Research output per year

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Research Output


Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Stern, D., Cho, M. T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie-Rosell, A., Burton, B. K., Kim, K. H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B. & 5 others, Guillen Sacoto, M. J., Wentzensen, I. M., McLaughlin, H. M., McKnight, D. & Chung, W. K., Aug 2017, In : Clinical Genetics. 92, 2, p. 221-223 3 p.

Research output: Contribution to journalLetter

5 Scopus citations


Burton, B. K., Adams, D. J., Grange, D. K., Malone, J. I., Jurecki, E., Bausell, H., Marra, K. D., Sprietsma, L. & Swan, K. T., May 1 2011, In : Journal of Pediatrics. 158, 5, p. 864-865 2 p.

Research output: Contribution to journalLetter


Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]

Baris, H., Bejjani, B. A., Tan, W. H., Coulter, D. L., Martin, J. A., Storm, A. L., Burton, B. K., Saitta, S. C., Gajecka, M., Ballif, B. C., Irons, M. B., Shaffer, L. G. & Kimonis, V. E., Sep 1 2006, In : American Journal of Medical Genetics, Part A. 140, 17, p. 1876-1879 4 p.

Research output: Contribution to journalLetter

9 Scopus citations

Sudden death associated with biotinidase deficiency.

Burton, B. K., Roach, E. S., Wolf, B. & Weissbecker, K. A., Mar 1 1987, In : Pediatrics. 79, 3, p. 482-483 2 p.

Research output: Contribution to journalLetter

15 Scopus citations