Barbara K Burton

  • 6316 Citations
1973 …2019
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Research Output 1973 2019

5 Citations (Scopus)

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

9 Citations (Scopus)

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

Speech Disorders
Developmental Disabilities
Gene Duplication
Chromosomes, Human, Pair 2
Preschool Children


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

15 Citations (Scopus)

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

Biotinidase Deficiency
Sudden Death